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Archive for the ‘Molecular Genetics’ Category

UofL researchers lead the call to increase genetic diversity in immunogenomics –

Tuesday, July 6th, 2021

Historically, most large-scale immunogenomic studies those exploring the association between genes and disease were conducted with a bias toward individuals of European ancestry. Corey T. Watson, assistant professor in the University of Louisville Department of Biochemistry and Molecular Genetics, is leading a call to actively diversify the genetic resources he and fellow immunogenomics researchers use in their work to advance genomic medicine more equitably.

Watson, along with UofL post-doctoral fellow Oscar Rodriguez, and visiting fellow Yana Safonova, are part of an international group of researchers who say the narrow studies limit their ability to identify variation in human adaptive immune responses across populations.

We need to better understand how genetics influences immune system function by studying population cohorts that better represent the diversity observed across the globe if we are to fully understand disease susceptibility, as well as design more tailored treatments and preventative measures, Watson said.

In an article published in Nature Methods, Diversity in immunogenomics: the value and the challenge, the group advocates for resources used in immunogenomics research to actively include and specifically identify additional populations and minority groups. They say such diversity will make their research more relevant and help in understanding population and ancestry-specific gene-associated disease, leading to improvements in patient care.

As scientists, we have a say in which populations are investigated. Therefore, it is critical for us to be actively inclusive of individuals representative of the world we live in. This is especially critical for genes that are as diverse and clinically relevant as those that encode antibodies and T cell receptors, Rodriguez said.

Watsons research focuses on immune function and molecular genetics. His team is studying a specific area of the genetic code that controls antibody function to better understand how differences in an individuals genes determine their susceptibility to certain diseases or immune responses to vaccines.

In collaboration with Melissa Smith, assistant professor in the Department of Biochemistry and Molecular Genetics, the team is conducting the largest sequencing efforts of the antibody gene regions in humans and in animal models, Watson said.

Specifically in humans, we are working to build catalogs of genetic variation in samples from multiple ethnic backgrounds and are engaged in projects that seek to understand how this genetic variation influences the immune response in infection, vaccination and other disease contexts, he said.

Watson is involved in efforts to improve the resources and data standards for antibody and T cell receptor genes for immunogenomics researchers around the world.

The article in Nature Methods was co-authored by researchers from the United States, Canada, Norway, France, Sweden, the United Kingdom, Russia, Saudi Arabia, Israel, South Africa, Nigeria, Chile, Peru, China, Japan, Taiwan and French Polynesia with expertise in biomedical and translational research, population and public health genetics, health disparities and computational biology as well as immunogenomics.

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UofL researchers lead the call to increase genetic diversity in immunogenomics -


In Brief This Week: Foundation Medicine, Myriad Genetics, Genetron Health, and More – GenomeWeb

Tuesday, July 6th, 2021

NEW YORK Foundation Medicine and Flatiron Health announced this week that Foundations comprehensive genomic profiling tests will be available to order through Flatiron's OncoEMR platform. The integration will allow clinicians to electronically order, track, and receive Foundations test through OncoEMR, the companies said. Both Flatiron and Foundation are planning further integrations with the others comprehensive genomic profiling tests and electronic medical record systems, respectively.

Myriad Genetics this week said it has completed the sale of its Myriad RBM unit which specializes in providing laboratory research services to pharmaceutical companies to IQVIA subsidiary Q2 Solutions. When Myriad announced its intent to sell this business unit in May, it did not disclose the deal's financial details.

GenetronHealth said this week that it has entered a new partnership with the World Economic Forum under its Health and Healthcare Platform, where it is contributing its research insights, technologies, and industry experience. The platform's overall goal is to ensure worldwide equal access to the highest standards of health and healthcare.Genetroniscurrentlyparticipating in a sub-project,dubbedMoving Genomics to the Clinic, which seeks to promote the use of genetic testing in routine clinical practices by proving its utility and efficacy.

AccessHope, a City of Hope subsidiary, said this week that it has partnered with the Dana-Farber Cancer Institute to bring the latest cancer care expertise to patients and oncologists in the community. By partnering withAccessHope, Dana-Farber's experts will support oncologistswiththe latest advances in oncology,includingpersonalized treatments, clinical trials, promising investigational medications, and molecular testing. Patients in Massachusetts, Maine, New Hampshire, Vermont, Connecticut, Rhode Island, New York,and New Jersey, as well asthosein other parts of the country,can access these services through their employee benefits programs. City of Hope and Northwestern University's Robert H. Lurie Comprehensive Cancer Center are also foundational members ofAccessHope.

Molecular breath analysis startup Deep Breath Intelligencesaid this week that it has entered a collaboration with Lwenstein Medical, a sleep and respiratory medicine firm based inRheinland-Pfalz, Germany.Rotkreuz, Switzerland-based DBI said that it is applying artificial intelligence to identify breath biomarkers related to obstructive sleep apnea syndrome. DBIsaid ithas initiated a study on OSASin collaboration with Lwenstein Medical,using participantsbreath samples and applying DBIs patterned analytical algorithms to provide results.

Enable Biosciences said this week it is partnering with the California Department of Public Health to survey state residents for the presence of antibodies against SARS-CoV-2. As part of the program, more than 200,000 households in California will be invited to submit dried blood samples collected at home using kits developed by Enable Bio andtheCDPH. The samples will then be tested by Enable Bio for the presence of antibodies against SARS-CoV-2 to distinguish antibody response fromviralinfection versusresponse fromvaccination. Test results will provide information about the spread of COVID-19 in California and the uptake of vaccines for the disease, South San Francisco, California-based Enable Bio said. The project is a collaboration betweenthe company,theCDPH, Stanford University, and Gauss Surgical. The first survey period concluded June 15 with the second and third enrollment periods slated tobeginat the start of 2022.

NeoGensaid this week that it has extended itsglobalanimal genomicspartnership withGencove. Thepartnership allowsNeoGento offerGencove'sSkimSeeklow-pass sequencing technology to customers in the agricultural sector, including those in the bovine, canine,poultry, and swine industries. UsingGencove'ssequencingimputationplatform,NeoGensaid it can deliver increased genomics data with improved accuracy and flexibility.

Bioceptsaid this week ithas been added to the Russell Microcap Index. Michael Nall, Biocept's president and CEO,called the nodexceptionally exciting, as a driver ofawarenessfor the cancer liquid biopsy firm within thelargerglobal investment community.

Immunoviasaid this week that its American subsidiary hasreceived a CLIA Certificate of Registration,which isan important step in the accreditation of its laboratory in Marlborough, Massachusetts, and a prerequisite to receiving clinical laboratory licensure fromtheMassachusetts Department of Public Health. Clinical laboratory licensure is required beforeImmunoviacan begin testing patients with itsImmrayPanCan-d test, the firm said.According to the Centers for Medicare and Medicaid Services, a Certificate of Registration allows a laboratory toconduct moderate and/or high complexity testing until it is inspected to determine its compliance with the CLIA regulations.

In Brief This Week is a selection of news items that may be of interest to our readers but had not previously appeared onGenomeWeb.

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In Brief This Week: Foundation Medicine, Myriad Genetics, Genetron Health, and More - GenomeWeb


More filling? Tastes great? How flies, and maybe people, choose their food – Yale News

Tuesday, July 6th, 2021

Flies have discriminating taste. Like a gourmet perusing a menu, they spend much of their time seeking sweet nutritious calories and avoiding bitter, potentially toxic food. But what happens in their brains when they make these food choices?

Yale researchers discovered an interesting way to find out. They tricked them.

In a study that could also help illuminate how people make food choices, the researchers gave hungry fruit flies the choice between sweet, nutritious food laced with bitter quinine and a less sweet, but not bitter, food containing fewer calories. Then, using neuroimaging, they tracked neural activity in their brains as they made these tough choices.

So which won? Calories or better taste?

It depends on how hungry they are, said Michael Nitabach,professor of cellular and molecular physiology, genetics, and neuroscience at Yale School of Medicine and senior author of the study.The hungrier they are, the more likely they will tolerate bitter taste to obtain more calories.

But the real answer to how flies make these decisions is a little more complex, according to the study published July 5 in the journal Nature Communications.

According to the research team, led by Preeti Sareen, associate research scientist at Yale, flies relay sensory information to a portion of their brain called the fan-shaped body, where signals are integrated, triggering what amounts to the insect version of an executive decision. The researchers found that patterns of neuronal activity in the fan-shaped body change adaptively when novel food choices are introduced, which dictates the flys decision over what food to eat.

But researchers went a step further. And things got even stranger. They found they could change a flys choice by manipulating neurons in areas of the brain that feed into the fan-shaped body. For example, when they caused a decrease in activity in the neurons involved in metabolism, they found that it made hungry flies choose the lower calorie food.

It is one big feedback loop, not just top-down decision making, Nitabach said.

And this is where there are connections to food choices of humans, he said. Neural activity in both a flys brain and a humans brain are regulated by the secretion of neuropeptides and the neurotransmitter dopamine, which in humans helps regulate sensations of reward. Changes in this network may alter how the brain responds to different types of food. In other words, neurochemistry may sometimes dictate food choices we think we are making consciously.

The study provides a template to understand how it is that things like hunger and internal emotional states influence our behavior, Nitabach said.

Sareen and Li Yan McCurdy, a graduate student at Yale School of Medicine, are co-authors of the paper.

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More filling? Tastes great? How flies, and maybe people, choose their food - Yale News


Genetic mapping of subsets of patients with fragile X syndro | TACG – Dove Medical Press

Tuesday, July 6th, 2021


Fragile X syndrome (FXS), OMIM # 300624, is a X-linked inherited genetic disease classified as a triplet repeat condition. FXS is the most common cause of inherited intellectual disability and autism in the world. It has a prevalence of 1 in 5000 men and 1 in 8000 women. Affected individuals are characterized by intellectual disability, autism, language deficit, typical facies, and macroorchidism.1,2

Alterations in the FMR1 gene with locus Xq27.3 are causative of Fragile X Syndrome and other disorders. This gene harbors a CGG repeat within the 5 untranslated region and, depending on the number of repetitions, 4 types of alleles are defined with different clinical manifestations:3 Normal alleles, which have up to 44 CGG repeats; grey zone or intermediate alleles that contain between 45 and 54 repeats; premutation (PM) alleles with between 55 and 200 repeats; and full mutation (FM) alleles, with more than 200 repeats. In most cases, this is due to an expansion of the CGG triplet from one generation to the next.4

The Fragile Mental Retardation Protein (FMRP) is coded by the FMR1 gene. The absence of FMRP expression is usually secondary to the methylation of the FMR1 gene that occurs when more than 200 CGG repeats are present in the 5UTR region; this can also be explained by a point mutation in the coding region for FMR1 or a deletion that includes this gene, but these changes have only been reported in a few cases. The absence of FMRP is related to the classic FXS phenotype.5,6

FMRP expression is slightly lower in the carriers of a PM allele. Lower levels of FMRP are found particularly in the upper premutation (PM) range however, they typically do not present the classic FXS syndrome phenotype.7 Furthermore, they have elevated FMR1 mRNA levels between 2 to 8 times normal levels, which also leads to RNA toxicity. These elevated levels of mRNA are a risk for a number of medical conditions that are not explained by decreased FMRP.2,4,8

FMRP has roles in chromatin dynamics, RNA binding, mRNA transport, and mRNA translation9,10 and for certain subgroups of cerebral transcripts.11

This protein is involved in the regulation of RNA stability, subcellular transport and translation of neural mRNAs that codify proteins involved in synapsis development, neural plasticity and brain development.8

In addition, FMRP interacts with at least 180 proteins expressed in the brain and connective tissue. This interactome comprises known FMRP-binding proteins, including the ribosomal proteins FXR1P, NUFIP2, Caprin-1, and other novel FMRP-interacting candidate proteins located in different subcellular compartments, including CARF, LARP1, LEO1, NOG2, G3BP1, NONO, NPM1, SKIP, SND1, SQSTM1 and TRIM28. This interactome suggests that, besides its known functions, FMRP is involved in transcription, RNA metabolism, ribonucleoprotein stress granule formation, translation, DNA damage response, chromatin dynamics, cell cycle regulation, ribosome biogenesis, miRNA biogenesis and mitochondrial organization.9

Several studies have shown that in the absence of FMRP, a wide range of neural mRNAs are affected, boosting neural protein synthesis, which results in dendritic spine dysmorphogenesis and glutamate/GABA imbalance, which in turn produce variations in neural excitation/inhibition, phenomena that are present in FXS. Dendritic spine dysmorphogenesis plays a role in the intellectual deficits and behavioral problems, due to the weak synaptic connections found in this syndrome.12,13

Fragile X syndrome (FXS) has incomplete penetrance and variable expressivity and biological sex is a decisive factor of the phenotype. Full mutation of the FMR1 gene has a 100% penetrance of intellectual disability in males and 60% in females. Other characteristics associated with FXS Appear with varying frequencies in affected individuals. Autism spectrum disorder (ASD) symptoms appear during early childhood in 50% to 60% of males and 20% of females with FXS.1417

Physical features include elongated face, large and prominent ears (7578% of affected males), mandibular prognathism (80% of adult men), hyperlaxity and macroorchidism (95% of adult men). Other characteristics also vary in their frequency of presentation: seizures (23%), strabismus (8%), and cardiac abnormalities such as abnormal aortic root dimensions (18%) and mitral valve prolapse (55%). In general, the female phenotype is less severe and less specific.4,18

The variation in the phenotype of monogenic diseases is common,19,20 it is explained by a combination of genetic, environmental, and lifestyle factors,21 and FXS is not an exception.

Here, we present a review of the knowledge about the molecular factors involved in the variable expressivity of FXS.

The presence of a full mutation in FMR1 is associated with the hypermethylation of a CpG island located in the promoter of the FMR1 gene. Methylation of DNA regions (mDNA) is one of the main epigenetic modifications related to transcription regulation.22 A CpG island is located proximal to the CGG repeat tract, which is expanded in FXS. Hypermethylation of the CpG island generates transcriptional silencing of the FMR1 gene.23 As a consequence, the Fragile Mental Retardation Protein (FMRP), codified by the FMR1 gene, is not produced24 and in turn, the absence or low expression of FMRP causes FXS.

CGG tract repetition expansion in the untranslated region (UTR) of exon 1 in the FMR1 gene generates instability of that region during the replication process, inducing size mosaicism, which is defined as the presence of premutation and mutation alleles in several cells.25

In males with FXS caused by full mutation, the detection of FMR1 mRNA levels in peripheral blood lymphocytes is common. This phenomenon is due to both size mosaicism and mDNA in the CpG island and nearby regions that vary between cells and tissues.26 Furthermore, longitudinal studies in women with FXS have shown that levels of mRNA transcribed from FMR1 decrease significantly with age.23 Complicating even more the behavior of mDNA and FXS, it has been found that in premutation alleles, a considerable number of cells have mDNA.27 The variation between methylation states of the CpG island and nearby regions among different cells and tissue of the same person is known as methylation mosaicism.28 It is estimated that around 50% of people with FXS have this type of mosaicism.29 In cells where mutated alleles are not methylated, they are transcriptionally active and can be expressed.30 However, in these cells there is no FMRP synthesis since mRNA with CGG expansion greater than 200 repeats is not translated efficiently in ribosomes.31,32

The absence or low levels of FMRP is a decisive factor for FXS development, as several studies have aimed to discover the relationship between protein levels and phenotypic characteristics of the patients. Since the late 1990s, correlations between FMRP levels and the neurological phenotype of FXS have been established.29,33,34 The first studies about this topic established the standard levels of FMRP in peripheral blood leucocytes through immunoblotting. When comparing protein levels with the allele type and the presence of size mosaicism, it was demonstrated that people with the lowest FMRP levels were males with FM. Males with size mosaicism and females with FM had slightly higher levels of FMRP than males with FM.33,35,36 Via multiple regression models, it was found that FMRP levels were significantly correlated with the intelligence quotient (IQ) of the patients in the study.33 However, studies did not identify the same relation between FMRP levels and behavioral symptoms.34,37 More recent evidence supports a partial overlap between the pathogenic mechanisms that lead to FXS and ASD.38 Lower FMRP levels have been documented in samples of individuals with FXS and ASD compared to patients with FXS only.29,34 The relation between FMRP levels and IQ in males and females with different expansions in CGG repeats was studied recently.39 This last study has two important advantages compared with previous studies: firstly, the use of fluorescence resonance energy transfer (FRET), which has a higher sensibility when measuring protein levels, and also FMRP levels were measured in dermal fibroblasts. Unlike leucocytes, fibroblasts derive from the ectoderm, the same germ layer from which nervous system cells originate. Researchers found a strong and positive relation between FMRP levels and cognitive skills in patients with levels below 30% of the standard levels in controls. Interestingly, above this level, there was a higher dependence between low FMRP levels and low IQ.39

In parallel with the aforementioned studies, researchers reported the incidence of size and methylation mosaicism in cognitive impairment severity.4042 The classic definition of premutation alleles behavior as non-methylated alleles, and mutated alleles as methylated or partially methylated ones in order to categorize premutation carriers and patients with FXS has been extended progressively to include a detailed classification that takes into account the existence of size and methylation mosaicisms.

Regarding size mosaicisms, different combinations have been described, including patients with some FM cells and other cells with PM. Indeed, patients with FM, PM, grey zone alleles and even alleles with normal size have been reported.40 The presence of size mosaicisms with PM and FM alleles is related with a less severe phenotype and a higher risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS).43

When exploring the possible relation between size mosaicisms and the intellectual functioning of patients with FXS disregarding sex, it was found that patients with FM/PM had better intellectual functioning and less maladaptive behavior, compared with FM-affected individuals.42 Interestingly, the same study found that ASD features and maladaptive behaviors were similar between FM-only and PM/FM mosaics within each sex, after controlling for overall intellectual functioning. A limitation of this study is that they used venous blood and real time PCR and Southern blot analysis to quantify the level of methylation.

Recently, methylation mosaicism has been taken into account as an important variable in phenotype traits. The most frequent mosaicism found in males is the presence of FM-methylated alleles and non-methylated FM and PM alleles (combination of size and methylation mosaicism).25,44 However, in patients with FM and not PM mosaicisms, methylated alleles do not express mRNA, while non-methylated alleles do. An aspect that highlights the importance of detecting the presence of this kind of mosaicism is the influence on phenotype severity. Additionally, according to some case reports, the presence of synthesized mRNA from PM and FM alleles increases the odds of developing the FXTAS phenotype.45,46 The final consequence of methylation mosaicism is the cells reduced ability to express FMR1 mRNA, measure mRNA and determine if there is a relation with phenotypic traits. When analyzing mRNA levels between males and females, it was found that females had higher levels. Also, in females, higher levels of FMR1 mRNA were related positively with age but not with intellectual functioning and autistic features. Males with FM that express FMR1 mRNA had significantly higher ADOS calibrated severity scores, when compared with males with fully methylated FM. Interestingly, no differences were found regarding intellectual functioning.41 Likewise, when contrasting FMR1 mRNA levels and scores on the Aberrant Behavior Checklist-Community-FXS version (ABC-CfX) it was found that in males with FM, higher values of FMR1 mRNA were related with elevated irritability and lower health-related quality of life scores.47 This association was not found in males with PM/FM, suggesting that for improved genotype/phenotype associations, it is essential to take into consideration not only sex but also size and methylation mosaicism.

Recent investigations explored simultaneously how FMR1 mRNA levels of FMRP are related to phenotypic alterations in males with PM and FM.48 In a study composed of 14 cases of patients with PM or PM and FM mosaicism and mental illnesses such as bipolar disorder, schizophrenia and psychosis, among others, low levels of FMRP and increased FMR1 mRNA were evident in these patients. This combination of characteristics in patients with FM, decreased FMRP, PM and increased FMR1 mRNA represents a dual mechanism of clinical significance that may generate characteristics of both FXS and FXTAS.48 In a clinic-based ascertained group of patients with FXS of both gender, a significant difference was found between FXS with ASD and low levels of FMRP when comparing concentrations of the protein in patients with FXS without ASD.29 They found that the mean full scale IQ and adaptive skills composite scores were significantly lower in males than in females (p = 0.016 and p = 0.001, respectively, MannWhitney). Additionally, all individuals with moderate or severe ID were males. Not surprisingly, ASD was present more frequently in males with FXS (46% vs 20% females). This association was not found in males with PM/FM, suggesting that for improved genotype/phenotype associations is essential to take into consideration not only sex but size and methylation mosaicism.29

There is a small proportion of FXS patients without expansions in the CGG-repeat tract. In this group, the condition is caused by missense or nonsense mutations,5,16 or deletions in FMR1.1,6 Patients with these mutations have similar physical, cognitive and behavioral characteristics to FXS patients. With the increasing availability of diagnostic methods based on next-generation sequencing and comparative genomic hybridization, a higher rate of diagnosis of mutations causing FMR1 function loss is expected. This will allow a clear delimitation of the phenotype caused by the loss of the protein in the absence of CGG tract expansions.

For many monogenic diseases it is known that, besides the allelic variance, the effect of modifier genes has an important role in incomplete penetrance and variable expressivity. The identification of modifier genes that affect the phenotype in monogenic diseases has many challenges that complicate their description. A genetic variant can modify the effect in the phenotype of another variant in many ways, including epistasis and genetic interactions.49,50

In studies using FXS murine models, important new evidence was acquired in order to establish the importance of potential modifier genes and their impact on FXS phenotype development. The knockout mouse model for FXS was generated in the last decade of the XX century. Fmr1 KO mice had learning deficits, abnormal synaptic connections, seizures, hyperactivity and macroorchidism.51,52 When describing the mouse phenotype in detail, it was evident that abnormal phenotypic characteristics depend, at least in some proportion, on their genetic background.53

During the identification of modifier genes in the FXS phenotype, a large proportion of the research has aimed towards the susceptibility to developing certain clinical behavioral characteristics, such as aggression, ASD and seizures.34,5459 All of the studies use a similar methodological design: they arrange groups of people with or without a specific phenotypic trait and establish the frequency of specific variants in modifier gene candidates.

The possibility that Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene may modulate the epilepsy phenotype in FXS patients has also been investigated. The replacement of a methionine for a valine in the 66th position of the BDNF protein interferes with normal intracellular traffic and BDNF dependent secretory activity in cortical neurons.60 This polymorphism has been related to cerebral anatomy alterations61 and neuropsychiatric disorders.62,63 In a sample of 27 males with FXS from Finland, it was found that all the patients with epilepsy (15%) had the Met66 allele, whereas the prevalence of this allele is 20% in the normal population. Research suggests that the Met66 allele in BDNF interacting with FM in FMR1 may partially explain the higher incidence of seizures in patients with FXS.56 In a more recent study with a higher number of males with FXS (77 patients), the results were not replicated and there was no association between seizures and Val66Met polymorphism.58 These results show the importance of validating studies about modifier genes in different populations.

In research about genes that affect mood and aggression, such as the serotonin transporter (5-HTTLPR), the monoamine oxidase A (MAOA-VNTR) and COMT, conflicting results were found. All of those genes are involved in regulatory pathways for different neurotransmitters, and their variants have been associated with the development of behavioral phenotypes in different contexts other than FXS. In one group of 50 males with FXS, the relationship of 5-HTTLPR and MAOA-VNTR polymorphisms with the frequency/severity of aggressive/destructive, self-injurious and stereotypic behaviors was studied. It was found that the high-transcribing long (L/L) genotype in 5-HTTLPR was related with a higher frequency of aggressive/destructive and stereotypic behavior, while patients with the short (S/S) genotype had less aggression. The MAOA-VNTR genotype had no effect on behavior.55 On the other hand, in a study of 64 males with FXS where the COMT gene was also included, the results of the previous study were not replicated. There was no association between behavioral characteristics and either 5-HTTL PR (serotonin) or MAOA genotypes. Nevertheless, the A/A genotype in COMT that modifies dopamine levels was associated with greater interest and pleasure in the environment, and with less risk of property destruction, stereotyped behavior and compulsive behavior.54 The authors of the study suggest that the non-reproducibility of the results regarding MAOA-VNTR can be explained by differences in the prevalence of aggressive and stereotyped behavior among the studied populations or by differences in the measurements used to characterize each behavior.

The importance of identifying potential modifier genes was explored in a clinical trial. The researchers investigated the relation between polymorphisms in several genes and the response of sertraline in 51 children. They found that BDNF, MAOA, 5-HTTLPR, Cytochrome P450 2C19 and 2D6 polymorphisms had significant correlations with treatment response.64

Currently the knowledge about molecular causes of the variable phenotype in patients with FXS include characteristics associated with the FMR1 gene itself and to secondary, modifying gene effects.

Regarding FMR1, when the diagnosis is established, the type of mutation causing FXS is identified: CGG repeat tract expansion vs pathological variant causing loss of function in FMR1.

When the CGG is identified, is it expected that about half of the patients have size or methylation mosaicism or both.29 The presence of any of those mosaicisms determines the expression or not of FMR1 mRNA and FMRP. The quantity of FMRP is directly related with IQ.34,37,39 While the presence of size mosaicism is related with better intellectual functioning and less maladaptive behavior,29,42 elevated concentrations of FMR1 mRNA in patients with FM have been associated with a higher risk of developing FXTAS45,46,48 and with the severity of behavioral symptoms.47

The search for modifier genes affecting the phenotype has been carried out using the candidate genes strategy. Because high impact clinical manifestations in FXS are related with neurologic phenotypes, the studied candidate genes are involved in CNS development and the appearance of seizures (BNDF)56,6062 and associated with mood and aggression (5-HTTLPR, MAOA-VNTR y COMT).54,55 Recent research has been done with small groups of patients and there are no conclusive results about the importance of these variants in modifier genes.

Scientific and clinical evidence about molecular causes of variable expressivity in FXS is growing quickly. It is evident that aspects of the mutation type in FMR1 and the behavior of the CGG repeat tract are relevant in the presentation of the condition. Research about modifier genes is still emerging. There are important limitations such as sample size and comparability of different studies, mainly due to smaller groups of selected patients and the use of different tools for measuring the phenotypes.

Independent cohorts of patients with FXS across different continents have shown evidence that mosaicism, FMR1 mRNA or FMRP quantification are associated with the severity of the phenotype. However, this information cannot currently be used effectively in the integral management of patients. When intervention strategies become available in order to prevent the development of FXTAS, or when certain molecules can regulate levels of FMRP expression to measure FMR1 mRNA and FMRP, they could be crucial for selecting patients and identifying the best therapeutic intervention.

In clinical trials there is an important window of opportunity. Identifying mosaicism, measuring transcription/translation activity of FMR1 and stratifying patients by modifier genotypes29,65 will permit the identification of subgroups of patients with greater potential to respond to specific treatments.

The authors report no conflicts of interest in this work.

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34. Loesch DZ, Bui QM, Dissanayake C, et al. Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neurosci Biobehav Rev. 2007. doi:10.1016/j.neubiorev.2006.09.007

35. Backes M, Gen B, Schreck J, Doerfler W, Lehmkuhl G, Von Gontard A. Cognitive and behavioral profile of fragile X boys: correlations to molecular data. Am J Med Genet. 2000;95(2):150156. doi:10.1002/1096-8628(20001113)95:2<50::aid-ajmg11><50::aid-ajmg11>3.0.CO;2-1

36. Tassone F, Hagerman RJ, Ikl DN, et al. FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet. 1999;84(3):250261. doi:10.1002/(SICI)1096-8628(19990528)84:3<250::aid-ajmg17>3.0.CO;2-4

37. Hall S, DeBernardis M, Reiss A. Social escape behaviors in children with fragile X syndrome. J Autism Dev Disord. 2006;36(7):935947. doi:10.1007/s10803-006-0132-z

38. Bagni C, Zukin RS, Synaptic A. Perspective of Fragile X syndrome and autism spectrum disorders. Neuron. 2019. doi:10.1016/j.neuron.2019.02.041

39. Kim K, Hessl D, Randol JL, et al. Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions. PLoS One. 2019;14(12):e0226811. doi:10.1371/journal.pone.0226811

40. Aliaga SM, Slater HR, Francis D, et al. Identification of males with cryptic fragile x alleles by methylation-Specific quantitative melt analysis. Clin Chem. 2016;62(2):343352. doi:10.1373/clinchem.2015.244681

41. Baker EK, Arpone M, Aliaga SM, et al. Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features. Mol Autism. 2019;10(1). doi:10.1186/s13229-019-0271-7

42. Baker EK, Arpone M, Vera SA, et al. Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome. J Neurodev Disord. 2019;11(1). doi:10.1186/s11689-019-9288-7

43. Kraan CM, Godler DE, Amor DJ. Epigenetics of fragile X syndrome and fragile X-related disorders. Dev Med Child Neurol. 2019;61(2):121127. doi:10.1111/dmcn.13985

44. Rousseau F, Heitz D, Biancalana V, et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. Obstet Gynecol Surv. 1992;47(5):306308. doi:10.1097/00006254-199205000-00008

45. Loesch DZ, Sherwell S, Kinsella G, et al. Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene. Clin Genet. 2012;82(1):8892. doi:10.1111/j.1399-0004.2011.01675.x

46. Santa Mara L, Pugin A, Alliende MA, et al. FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile. Clin Genet. 2014;86(4):378382. doi:10.1111/cge.12278

47. Baker EK, Arpone M, Kraan C, et al. FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome. Sci Rep. 2020;10(1). doi:10.1038/s41598-020-68465-6

48. Schneider A, Winarni TI, Cabal-Herrera AM, et al. Elevated FMR1-mRNA and lowered FMRP a double-hit mechanism for psychiatric features in men with FMR1 premutations. Transl Psychiatry. 2020;10(1). doi:10.1038/s41398-020-00863-w

49. Dipple KM, McCabe ERB. Phenotypes of patients with Simple mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet. 2000;66(6):17291735. doi:10.1086/302938

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51. Mineur YS, Sluyter F, De Wit S, Oostra BA, Crusio WE. Behavioral and neuroanatomical characterization of the Fmr1 knockout mouse. Hippocampus. 2002;12(1):3946. doi:10.1002/hipo.10005

52. Bakker CE, Verheij C; The Dutch-Belgian Fragile X Consorthium, et al. Fmr1 knockout mice: a model to study fragile X mental retardation. Cell. 1994. doi:10.1016/0092-8674(94)90569-X

53. Errijgers V, Kooy RF. Genetic modifiers in mice: the example of the fragile X mouse model. Cytogenet Genome Res. 2004;105(24):448454. doi:10.1159/000078218

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55. Hessl D, Tassone F, Cordeiro L, et al. Brief report: aggression and stereotypic behavior in males with fragile X syndrome - Moderating secondary genes in a single gene disorder. J Autism Dev Disord. 2008;38(1):184189. doi:10.1007/s10803-007-0365-5

56. Louhivuori V, Arvio M, Soronen P, Oksanen V, Paunio T, Castrn ML. The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome. Epilepsy Res. 2009;85(1):114117. doi:10.1016/j.eplepsyres.2009.01.005

57. Stepniak B, Kstner A, Poggi G, et al. Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes. EMBO Mol Med. 2015;7(12):15651579. doi:10.15252/emmm.201505696

58. Tondo M, Poo P, Naud M, et al. Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphism in the BDNF gene play a role? Epilepsy Behav. 2011;22(3):581583. doi:10.1016/j.yebeh.2011.08.003

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60. Chen ZY, Patel PD, Sant G, et al. Variant Brain-Derived Neurotrophic Factor (BDNF) (Met66) alters the intracellular trafficking and activity-dependent secretion of wild-type BDNF in neurosecretory cells and cortical neurons. J Neurosci. 2004;24(18):44014411. doi:10.1523/JNEUROSCI.0348-04.2004

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Genetic mapping of subsets of patients with fragile X syndro | TACG - Dove Medical Press


What is The Babydust Method? Danielle Lloyd swears method helped her conceive girl – The Mirror

Tuesday, July 6th, 2021

Danielle Lloyd recently revealed that she is expecting a baby girl after using a controversial sex-selection guide called The Babydust Method.

The mum-of-four shares Archie, 10, Harry, nine, and George, seven, with her ex-husband, footballer Jamie OHara, and Ronnie, three, with current husband Michael O'Neill.

She came across the guide, written and researched by Kathryn Taylor - who has a degree in Microbiology, Immunology, and Molecular Genetics from UCLA - and followed it in hopes of having a girl.

Danielle revealed she followed the book to a T, explaining to OK! magazine : "I tried it previously and I got pregnant but I had a miscarriage. So this time I was trying for a few months and nothing happened.

"When I got the negative result I felt really upset about it and Michael said, 'Come on, lets leave trying now and do the gender selection.'

"I had come to terms with the fact that we werent going to try any more and then two or three days later I found out I was pregnant."

The author, Kathryn, based her Babydust Method after Missionary Sister Dr Lonie McSweeney's 2011 study.

99 couples in Nigeria monitored their ovulation and then had intercourse with the exact timing and number of times placed depending on what sex they wanted their child to be.

For families that wanted a girl, sex could only happen only once, exactly two to three days before ovulation.

And if the couple wanted a boy, intercourse was meant to happen twice, as close to ovulation as possible.

Women chart their luteinising hormone twice a day and use ovulation predictor kits for three months before they want to conceive a child so that they could recognise patterns in their cycle.

The luteinising hormone surges at around day 14 in the menstrual cycle and ovulation, which is when an egg is released from the ovary.

Kathryn had taken to her Facebook to warn followers that she isn't a doctor but simply wanted to help people better understand the method.

She explained: "I have to mention, I am not a doctor, and I cannot guarantee you'll conceive the sex of your choice.

"All I can do is help you better understand how to implement the method, and give you encouragement along the way."

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Doctors have been sceptical about the method, explaining how the chances of getting a boy or girl are usually 50-50.

"There are some scientific ideas on how to improve your chances to get a boy and girl," Dr. Elena Trukhacheva, President and Medical Director of Reproductive Medicine Institute in Chicago, Ill., told Refinery29.

"But in real life, its 50-50. These ideas are not going to take you farther than 50-50, and its not going to work for some couples."

It is important to note that no exact method can promise the desired results.

Do you have a story to sell? Get in touch with us at or call us direct 0207 29 33033.

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What is The Babydust Method? Danielle Lloyd swears method helped her conceive girl - The Mirror


Datar Cancer Genetics joins hands with US based Iylon Precision Oncology to offer personalized Precision Oncology cancer treatment solutions – PR Web

Tuesday, July 6th, 2021

Datar Cancer Genetics

NASHIK, India (PRWEB) July 04, 2021

"This association will assist patients within the Iylon system to avail genomic solutions offered by the Datar group. Our passion and commitment to deliver best-in-class, genomic-based personalized cancer treatment recommendations has resulted in developing an unparalleled range of blood and tissue-based diagnostics for clinicians and patients," said Dr Vineet Datta, Executive Director, Datar Cancer Genetics. "This partnership will support clinicians to interpret genomic information and facilitate personalized cancer treatment through comprehensive interrogation of cancer genomics."

Iylons clinical advisors are globally renowned experts in Precision Oncology and together with Iylons own in-house experts and Datars diagnostic tools, patients can look forward to best chance at being cancer-free.

About Iylon Precision Oncology

Iylon Precision Oncology has partnered with pioneers in the field of Oncology to review clinical and genomic information and provide individualized, evidence-based optimal treatment plan for each patient. This flagship service is geared towards top global experts in Radiology, Pathology, Molecular Oncology, Medical Oncology, and Cancer Genomics, team up to discuss and offer their recommendations. Iylons virtual consultations will provide personalized, evidence-based, optimal precision treatment recommendations for cancer patients.

About Datar Cancer Genetics

Datar Cancer Genetics is a leading cancer research corporation specializing in non-invasive techniques for better diagnosis, treatment decisions, and management of cancer. Datar Cancer Genetics has a state of art, College of American Pathologists (CAP), CLIA, ISO15189, ISO9001 and ISO27001 accredited molecular genomic facility at India with a staff strength over 250, in addition to a state-of-the-art lab facility in the United Kingdom. Our team of scientists, clinicians and experts, based out of the United Kingdom, Germany and India, help facilitate our technologies for better cancer management

Contact: Dr Vineet Datta -


Contact: Dr. Padmaja Ganapathy -


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Datar Cancer Genetics joins hands with US based Iylon Precision Oncology to offer personalized Precision Oncology cancer treatment solutions - PR Web


Mapping a pathway to competitive production – –

Tuesday, July 6th, 2021

"We believe CEA will be fuelled by the diversity of crops. We need to focus on products for consumers and food producers, looking forward to other stable crops we can produce. We have to break the perception of what can be grown and what cannot be grown in CEA as we believe it's the future of growing crops, sustainably and locally," says Jaime Guerrero with consultancy firm Accenture.

Last week he joined the Indoor AgTech panel on the pathway to competitive production. During the panel, it became clear that several growers are looking into ways to diversify their crops.

Unusual cropsThe panel session, lead by Jaime Guerrero with Accenture, was joined by growers, such as David Freidenberg the CEO of Saffron Tech (Israel) and David Soo the CEO of Australian Vanilla Plantation (AU), that are already growing unusual products. Also, other growers are looking to find a unique position in the market, but not specifically with rare products.

Mark Tester, Co-Founder and CSO of Red Sea Farms (UAE), said that genetics is absolutely essential in order to improve plants and make them profitable in the long run. Red Sea Farms is turning salt-tolerant plants into salt-tolerant plants crops. Currently, the company is growing tomatoes but is moving into cucumbers soon as, Mark shared.

According to Sam Norton, founder of Heron Farms (US), many CEA companies were running into the same problems in the beginning but didnt tell. "We wont be going away from leafy greens as fast as predicted, I think its leveraging the whole CEA community."

The panelists

David Soo added that when talking about rare spices, the market has to look at where the costs come through. With vanilla, its the number of crops that go into a cubic meter. Resulting in 20% more cubic meters in the Vanilla Dome Greenhouse in comparison to a regular greenhouse. "Its important to get the right yield density- and volume for each cubic meter you have to manage.

Overall, David Freidenberg thinks that its going to be a lot of AI, machine learning using data to succeed in vertical farming. We have to leverage the knowledge we have today, implementing it into this business.

Growing vanilla in a hybrid solutionDavid Soo said that "Vanilla is the second spice in the world. However, naturally grown (open field) vanilla only satisfies 2% of the world's demand." As a result of a brainstorming session during a dinner, David said to have come up with his 'Vanilla Dome greenhouse' which is a hybrid-growing solution, where high volumes of vanilla are produced.

According to David, every dome greenhouse holds 200 vines that are growing to 20m. The company targets to grow 4km of vines of which 1 tonne of beans can be yielded, two harvests a year.

Saltwater as a resourceHeron Farms is a saltwater farm, combining seawater and carbon dioxide into a useful product, helophytes. "We brought the system indoors by growing vertically, controlling the photoperiod and the salinity of the irrigation water," noted Sam Norton.

It's solving two major environmental problems; excess carbon dioxide and excess seawater. As a result of combining these, the farm has multiple outputs; food, fresh water and salt. "We're not reinventing any models, but we're following the models that have worked already," Sam affirmed.

In order for the tomato plants to grow, the salinity tolerance of plants is increased. "We're using molecular genetics, biology to accelerate salt-tolerant plants in CEA," noted Mark Tester.

At Red Sea Farms salt-tolerant tomato plants are grown in a CEA greenhouse using saltwater resources. Their produce is sold around Saudi Arabia, whereas, according to Ryan Lefers, the company is planning to expand throughout Saudi Arabia and plans to enter the UAE.

Challenging the saffron marketSaffron Tech is growing saffron in vertical farms, to challenge the traditional agriculture market. Allowing for more sustainable growth of saffron year-round at a solid price. Normally, saffron is very expensive in terms of labor and its fragility given its stems that can easily break. "We'll start to launch our first commercial vertical farm soon, ready for sales to retailers," says David Freidenberg.

The shape of the dome works more efficiently than a rectangular as there's better airflow and humidity. David Soo adds, "All we have to do is help it along with a few fans. We can grow tropical plants in subtropical areas."

For more information:

Australian Vanilla PlantationDavid Soo,


Red Sea FarmsMark Tester, Co-Founder and CSO

SaffronTechDavid Freidenberg, CEO

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Mapping a pathway to competitive production - -


Associations between pancreatic expression quantitative traits and risk of pancreatic ductal adenocarcinoma. – Physician’s Weekly

Tuesday, July 6th, 2021

Pancreatic ductal adenocarcinoma (PDAC) is among the most lethal cancers. Its poor prognosis is predominantly due to the fact that most patients remain asymptomatic until the disease reaches an advanced stage, alongside the lack of early markers and screening strategies. A better understanding of PDAC risk factors is essential for the identification of groups at high risk in the population. Genome-wide association studies (GWAS) have been a powerful tool for detecting genetic variants associated with complex traits, including pancreatic cancer. By exploiting functional and GWAS data, we investigated the associations between polymorphisms affecting gene function in the pancreas (expression quantitative trait loci, eQTLs) and PDAC risk. In a two-phase approach, we analysed 13 713 PDAC cases and 43 784 controls and identified a genome-wide significant association between the A allele of the rs2035875 polymorphism and increased PDAC risk (P=7.1410 -10). This allele is known to be associated with increased expression in the pancreas of the keratin genes KRT8 and KRT18, whose increased levels have been reported to correlate with various tumor cell characteristics. Additionally, the A allele of the rs789744 variant was associated with decreased risk of developing PDAC (P=3.5610 -6). This SNP is situated in the SRGAP1 gene and the A allele is associated with higher expression of the gene, which in turn inactivates the cyclin-dependent protein 42 (CDC42) gene expression, thus decreasing the risk of PDAC. In conclusion, we present here a functional-based novel PDAC risk locus and an additional strong candidate supported by significant associations and plausible biological mechanisms. The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email:

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Associations between pancreatic expression quantitative traits and risk of pancreatic ductal adenocarcinoma. - Physician's Weekly


Global Genomics Market | Rising Incidence of Chronic and Genetic Diseases are Key Factors to Grow Market During 2021-2029 | 23andMe, Agilent…

Tuesday, July 6th, 2021

Straits Research Latest 2021 Report: The Global Genomics Report represents a comprehensive study on the Genomics industry including current trends and status.

The report can help to understand the market in-depth and strategize for business expansion accordingly in the future. In the strategic analysis process, it gives insights from marketing channel and market positioning to potential growth strategies, providing in-depth analysis for new entrants or exists competitors in the Genomics Market now and in the future.

The genomics market was valued at USD 17,500 million in 2019 and is expected to grow with a CAGR of 8.0% during the forecast period, 20202029.

Aimed to offers the most segmented consumption and sales data of downstream consumption fields and competitive landscape in various regions and countries around the globe, this report analyses the latest market data from the primary and secondary authoritative sources also.

Genomics is the science of studying an organisms genomes and its interaction with a variety of signals. The field of genomics has seen substantial growth in terms of technological advancements that have encourageda better understanding of genomes and their immediate environment and techniques.

Conventional genome editing technologies are inefficient, time-consuming, labor-intensive, and have limited capacity. However, the advent of CRISPR / Cas9 nuclease, ZFN, and TALEN gene-editing technologies is positioned to solve these issues by facilitating easy and accurate editing of genomes.

Market Key Drivers, Restraints, and Opportunities:

On the contrary, technological advancements are expected to open lucrative opportunities for the market players in the future.

Cumulative Impact of COVID-19 on Genomics Market:

COVID-19 is a unique global public health emergency that has affected almost every industry in the world, and the long-term effects are predicted to influence the industry growth during the estimated period. Our ongoing research amplifies our research framework to ensure the enclosure of underlying COVID-19 issues and potential paths forward.

The report delivers insights on COVID-19 considering the changes in consumer behavior and demand, purchasing patterns, re-routing of the supply chain, dynamics of present market forces, and the significant involvements of governments. The updated study offers market insights, industry analysis, estimations, and forecasts, considering the COVID-19 impact on the market.

Global Genomics Market is Segmented Based Segmentation and Region.

By Product- Instruments and Software, Consumables and Reagents.By Services- Core Genomics Services, DNA Sequencing services, Biomarker Translation Services, Computational Services.By Application- Functional Genomics, Mutational Analysis, Microarray Analysis, Epigenetics.By End-User- Clinical and Research Laboratories, Academics and Government Institutes, Hospitals and Clinics, Pharmaceutical and Biotechnology Companies

Reasons to Buy this Report:

Company Profiles of Genomics Market:

The report profoundly explores the recent significant developments by the leading vendors and innovation profiles in the Global Genomics Market, including 23andMe, Agilent Technologies, Thermo Fisher Scientific, Inc., Bio-Rad Laboratories, Hoffmann-La Roche Ltd., Myriad Genetics, Inc., Foundation Medicine, Inc., Danaher, Pacific Biosciences, Illumina, Inc., Stratos Genomics, Inc., Qiagen, Oxford Nanopore Technologies, BGI

Table of Contents of Genomics Market:

Study Coverage: It includes key vendors covered, key market segments, the scope of products offered in the global Flanged Heaters market, years considered, and study objectives. Additionally, it touches on the segmentation study offered in the report on the basis of the market segments.

Executive Summary: It gives an overview of key studies of industry, market growth rate, competitive landscape, key restraints, market drivers, key trends, and industry issues, swot analysis, and macroscopic indicators of the market.

Production by Region: Here, the report offers information regarding to import and export details, production, revenue, market sales, and key vendors of all regional markets studied.

Profile of Manufacturers: Every vendor profiled in this section is studied on the basis of SWOT analysis, their products, market production, value, capacity, and other vital factors.

About Us: is a leading market research and market intelligence organization, specializing in research, analytics, and advisory services along with providing business insights & market research reports.

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Global Genomics Market | Rising Incidence of Chronic and Genetic Diseases are Key Factors to Grow Market During 2021-2029 | 23andMe, Agilent...


The Babydust Method Danielle Lloyd used to conceive a girl after four sons and how it works – RSVP Live

Tuesday, July 6th, 2021

Danielle Lloyd is finally expecting a baby girl after having four sons.

The 37 year old mum is expecting her fifth child and revealed she used a method called The Babydust Method in a bid to try and encourage a natural sex selection.

Danielle, who is married to husband Michael O'Neill with whom she shares 3-year-old Ronnie, as well as sons, Archie, 10, Harry, nine, and George, seven, with ex-husband Jamie OHara, has been open in the past about her plans to travel abroad to undergo IVF using sex selection.

However Covid and travel restrictions put an end to the couple's plans to undergo IVF in a bid to finally have their much longed for daughter and Danielle instead put her faith in a famed natural sex selection method.

Danielle revealed she had followed the book "to a T" for several months and after having a miscarriage last year finally got pregnant again, finding out it was a girl last month.

The Babydust Method, a guide to conceiving a girl or a boy, was written by Kathryn Taylor, who devised the method and successfully used it to have a son in 2012, followed by a girl in 2014.

Kathryn, who has a degree in Microbiology, Immunology, and Molecular Genetics from the University of California, Los Angeles, then released the now famous book of her method in 2016.

Boasting a success rate of 94%, the method uses both the timing and frequency of sex to sway the odds in favour of having a boy or girl.

Women are instructed to use ovulation predictor kits for three months to fully familiarise themselves with their cycle.

Then in the lead-up to ovulation, when an egg is released from the ovary, women use the ovulation predictor kits to test twice a day.

When the two lines on the test strips are equally dark or darker than the control line it indicates you will ovulate 24 hours later.

If you are trying for a girl, you should only have sex once, two to three days before ovulation, and at no other times throughout the cycle.

If you're hoping for a boy you should wait until 24 hours after the first darkest (also known as peak) test and again after 24 hours but at no other times during the cycle.

There are a number of other tips you can use to increase your odds of conceiving a girl - though it should be noted that there are no scientific researches proving these to be right!

Shallow penetration is the more optimal type of penetration for conceiving a girl. Male sperm cells are actually the faster swimmers, so the shallower penetration means it gives the female sperm cells an opportunity to get to the egg as well.

Missionary position is the best position to try for conceiving a girl.

It's rumoured that male sperm cells are heat averse, and that by having a hot bath before having sex to conceive may slow the male swimmers down and allow the female cells race to the egg to fertilise it! It could be a nice way to bring some romance to what can sometimes be the monotony of trying to conceive on certain days and times. Make it a romantic bath for two!

We do need the male orgasm to release the sperm, as it's his sperm that dictates whether the baby conceived will be boy or girl, and some experts claim that a female orgasm releases a certain alkaline secretion. This allows the male sperm to apparently survive longer due to the fact that the male sperm cells need this secretion to survive.

No orgasm, no alkaline secretion and thus creating a hostile environment for the male sperm cells.

If you are trying to conceive a girl, think about eating foods that are high in calcium to aid your chances.- so eggs, milk, yogurts.

It's also said a diet that is high in fruit and vegetables such as spinach, broccoli, bananas may help to conceive a girl, and a vegetarian diet is one that is rumoured to be very good in terms of conceiving a girl.

Steer clear of Alkaline rich foods such as Apples and Avocados however, as alkaline is said to help the male swimmers along by creating a more welcome space for them.

Eat Acidic rich foods in days leading up to Ovulation to ensure you've created the best environment for the female sperm cells to swim into. Apparently, male sperm cells aren't as good at surviving in acidic environments, so you can alter the pH of your vagina with the help of chocolate and fizzy drinks!

Remember to cut out the salt to boost your chances of conceiving a girl. Put down the olives, step away from the cheese and put that pack of crisps back in the cupboard because eating high salt foods may help your chances of conceiving a boy, and not the girl you want.

Stick with the fruit and veg and foods that are high in calcium in the lead up to ovulation to give your female sperm cells a better opportunity of reaching the egg first.

Remember though, these are just suggestions and you should have fun trying to conceive your much wanted baby!

Read more:
The Babydust Method Danielle Lloyd used to conceive a girl after four sons and how it works - RSVP Live


In the beginning science and faith – The Irish Times

Thursday, June 24th, 2021

Sir, Andrew Mullen (Letters, July 21st) is in good company when he raises the issue of the legitimacy of the creation story.

Science has made huge steps forward in the last 50 years, with the field of molecular genetics emerging from the realization that DNA and RNA (ribonucleic acid) constitute the genetic material in all living things.

The Human Genome Project, the worlds largest collaborative biology research project, completed in April 2003, was headed up by Francis Collins.

His previous research projects involved the discovery of the genes that cause cystic fibrosis, cancer tumour growth and Huntington chorea, a neurological disease.

As a scientist, he has this to say on the creation story: The God of the Bible is also the God of the genome. He can be worshipped in a cathedral or in the laboratory. His creation is majestic, awesome, intricate, and beautiful

Progressive science, it seems, favours worship over mockery and ridicule. Yours, etc,



Sir, Andrew Mullens letter is valid up to a point. He has the right to his own opinion regarding creation. Edwin Poots, et al, should not be ridiculed. If they want to believe the Genesis story as literal and historical, let them. They are harmless as long as they do not impose their ideas on others. Science and modern Christian theology agree that creation began around 13.7 billion years ago and what we observe now is the result of evolution. There is no point in arguing with creationists as they already know who God is. Yours, etc,




A chara, In claiming that a culture of intolerance ridicules and mocks normal Christian beliefs, Andrew Mullen seeks to defend Edwin Pootss creationist viewpoint.

As an atheist, I have no quarrel with any individuals beliefs but the record of politicians dictating what is acceptable through legislation is fairly dismal.

Not so long ago, the religious beliefs of certain politicians ensured that people in same-sex relationships or who got pregnant without being married were, at the very least, culturally unacceptable and, at worst, liable to prosecution.

Belief in mindless tradition and irrational superstition is grand as long as it is kept private. Is mise,



Co Clare.

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In the beginning science and faith - The Irish Times


Ancient Maya Maintained Native Tropical Forest Plants around Their Water Reservoirs | Archaeology –

Thursday, June 24th, 2021

The banks of the artificial water reservoirs in Tikal, a major city of the ancient Maya world in what is now northern Guatemala, were primarily fringed with trees and wild vegetation, according to an analysis of ancient environmental DNA.

Tikal was a flourishing seat of power, religion and trade for Mesoamerica in what is now northern Guatemala; at its zenith around 830 CE the population reached somewhere between 40,000 and 62,000 inhabitants. Image credit: David Lentz.

Almost all of Tikals city center was paved. That would get pretty hot during the dry season, said Professor David Lentz, a paleoethnobotanist in the Department of Biological Sciences at the University of Cincinnati.

So it would make sense that they would have places that were nice and cool right along the reservoir.

It must have been beautiful to look at with the water and trees and a welcome place for the kings and their families to go.

Previously, scientists learned about the crops and wild plants that grew in Tikal by studying ancient pollen or charcoal.

For the new study, Professor Lentz and his colleagues developed a novel system to analyze ancient plant DNA in the sediment of Tikals Temple and Palace water reservoirs.

They were able to amplify small strands of DNA from chloroplasts, the plant structures where photosynthesis takes place.

Then they could match the ancient Tikal samples with the DNA of known plant species in much the same way scientists amplify ribosomal DNA to identify species of bacteria.

The analysis was quite challenging because we were the first to do this, said Professor Alison Weiss, a microbiologist in the Department of Molecular Genetics, Biochemistry and Microbiology at the University of Cincinnati.

Bacterial ribosomal DNA has a database. There was no database for this. We had to take sequences one by one and search the general database to find the best match.

The team identified more than 30 species of trees (like cabbage bark and ramn), grasses, vines and flowering plants that lived along the banks of Tikals reservoirs.

Ramn is a dominant rainforest species in Guatemala, Professor Lentz said.

Why you would find ramn around the reservoir is a curiosity. The answer is they left this forest intact.

Tikal has a harsh climate. Its pretty tough to survive when you dont get rain for five months of the year. This reservoir would have been the font of their lives. So they sometimes would protect these places by not cutting down the trees and preserving a sacred grove.

Among dozens of plants native to the region, the authors found evidence of wild onion, fig, wild cherry and two types of grasses.

Grass seeds might have been introduced to the reservoir by visiting waterfowl. Grass would have proliferated at the edges of the reservoirs during dry seasons and droughts, Professor Lentz said.

Tikal had a series of devastating droughts. As the water levels dropped, they saw blue green algae blooms, which produce toxic substances.

The droughts were great for the grass but not so much for the forest plants that lived along the reservoirs banks.

Were these wild areas the equivalent of a park? I think they were. I dont know how public they would have been, he added.

This was a sacred area of the city surrounded by temples and palaces. I dont know if the commoners would have been that welcome.

A paper on the findings was published in the journal Scientific Reports.


D.L. Lentz et al. 2021. Environmental DNA reveals arboreal cityscapes at the Ancient Maya Center of Tikal. Sci Rep 11, 12725; doi: 10.1038/s41598-021-91620-6

Ancient Maya Maintained Native Tropical Forest Plants around Their Water Reservoirs | Archaeology -


Local foundation awards $1.25 million to MIND Institute to study rare genetic condition – UC Davis Health

Thursday, June 24th, 2021

The RDM Positive Impact Foundation is funding an ambitious $1.25 million research project at the UC Davis MIND Institute to study SYNGAP1. The rare genetic condition causes seizures (epilepsy), intellectual disability and developmental delays. It is also highly associated with autism; about half of all SYNGAP1 patients have an autism diagnosis.

A staff member conducts research in the Segal Lab.

Ron Mittelstaedt and his wife, Darin, who live in El Dorado Hills, run the foundation. Hes the executive chairman of Waste Connections, a solid waste and recycling company with 20,000 employees in North America, and his family operates Toogood Estate Winery in Somerset. The Mittelstaedts have donated millions of dollars to organizations that help children over the past 15 years.

This time, its personal.

About three and-a-half years ago, Ron Mittelstaedts best friend died, leaving behind three sons and their families. Ive become sort of a surrogate dad, and now a surrogate grandfather, explained Mittelstaedt. One of those grandsons was diagnosed with a SYNGAP1 mutation a year and-a-half ago. With the familys support, Mittelstaedt is providing meaningful funding to the MIND Institute to advance research about the syndrome.

The reality is, like many rare conditions, there arent a lot of great options. So, were trying to find potentially life-changing treatment that hopefully may impact the lives of people with SYNGAP1, he said.

Mittelstaedt was previously on the MIND Institutes inaugural National Council of Visitors (then called the MIND Institute Advisory Council), and funded a successful research project that developed a blood test for Tourette syndrome.

A staff member in the Silverman lab conducts behavioral neuroscience research.

We are grateful to the Mittelstaedts for their generosity, said MIND Institute Director Leonard Abbeduto. As a collaborative hub for preclinical and clinical research on neurodevelopmental disability, the MIND Institute is uniquely suited to build on past successes and tackle the complexities of SYNGAP1 to provide help for families.

The funding also supports UC Davis' $2 billion fundraising campaign, Expect Greater: From UC Davis, For the World, the largest philanthropic endeavor in university history. Together, donors and UC Davis are advancing work to prepare future leaders, sustain healthier communities, and bring innovative solutions to today's most urgent challenges.

SYNGAP1-related non-syndromic intellectual disability is a rare neurodevelopmental condition caused by a variation in one gene. The gene, SYNGAP1, contains instructions for making a protein (SynGAP). This protein is located at the junctions between nerve cells, called synapses, and helps regulate changes important for memory and learning. The protein also helps regulate communication between neurons.

When the variation is present, the SYNGAP1 protein in cells is reduced which causes an increase in the excitability in the synapses. This makes it difficult for neurons to communicate and increases the likelihood of seizure events. This can lead to a variety of symptoms:

Jill Silverman

SYNGAP1 syndrome affects 1-4 out of 10,000 people. The first patient was identified in 2009.

The MIND Institutes interventional genetics team includes faculty who specialize in multiple research areas.

Ron Mittelstaedt

Each of us is a world expert in our particular discipline, so bringing us all together means the chances of success are much more likely, said Jill Silverman, associate professor in the Department of Psychiatry and Behavioral Sciences and an internationally recognized expert in the use of rodent models for therapeutic development. Silvermans Lab is known for its expertise in behavioral neuroscience research.

In addition to Silverman, the SYNGAP1 team includes three other MIND Institute faculty members:

The sum of the group is going to be much greater than anything we could have done alone, said Fink, whose lab focuses on therapeutic development for neurodevelopmental conditions and neurodegenerative diseases. The fact that the foundation has funded us as a team, across multiple centers and programs is really unique. This funding brings us all together for an important project.

Kyle Fink in his lab, which focuses on therapeutic development for neurodevelopmental conditions and neurodegenerative diseases.

The researchers will work on parallel tracks, each contributing a piece of the puzzle.

Silverman will conduct specialized behavioral tests on mouse models of SYNGAP1, using tools with corresponding metrics in humans, such as EEGs (a type of brain scan) to determine clinically relevant outcomes.

Nord and Fink will create a new mouse model that contains the mutated human SYNGAP1 gene, while Segal and Fink will create new molecular therapies to counter that mutated gene. Theyll also figure out how to deliver those therapies to the brain.

Were not just trying to treat the symptoms of the disease with a drug, explained Segal, whose lab specializes in molecular analysis. We are trying to change the underlying genetic condition, and our particular approach is to do that in a way that does not change the DNA sequence. We use tools to change the gene expression instead, which we think will make safer therapies. Its really a state-of-the-art approach. Its molecular therapy.

David Segal working in his lab, which specializes in molecular analysis.

The collaborative approach, often called team science, coupled with the RDM Positive Impact Foundations support, allows for an ambitious, fast-tracked research program. The $1.25 million frees the researchers from the need to apply for multiple federal grants and enables them to focus immediately on SYNGAP1.

The team excels in whats often called bench to bedside research, translating results from the lab directly into therapies for patients.

We see these patients, we meet with them, were on Zoom calls with them and I want to find something that works for them. I want to change their lives. Thats what Im driven by, Silverman said.

Silverman, Fink and Segal have had previous success with their work on another rare genetic condition, Angelman syndrome, which causes developmental delay, speech and balance challenges and intellectual disability.

David Segal

Their labs helped to create and characterize the first rat model of Angelman syndrome last year. The Segal lab also created a protein therapeutic that could increase the level of the affected gene in mouse models of Angelman syndrome, a major discovery.

All three labs are still working on a wide range of therapeutics for Angelman, including molecular therapies delivered with viruses or stem cells and novel small molecule compounds.

Ron Mittelstaedt is hoping for another success story, this time with SYNGAP1, but hes also realistic about the research process.

We are all very aware that going down this path doesnt guarantee anything except the ability to get up to bat, and we could get a hit or strike out. But doing nothing guarantees you dont get a hit, so its important for us to take action, and were hopeful well hit a home run.

UC Davis researchers get $3 million FAST grant to find treatment for Angelman syndrome

The UC Davis MIND Institute in Sacramento, Calif. was founded in 1998 as a unique interdisciplinary research center where families, community leaders, researchers, clinicians and volunteers work together toward a common goal: researching causes, treatments and potential prevention of neurodevelopmental disabilities. The institute has major research efforts in autism, fragile X syndrome, chromosome 22q11.2 deletion syndrome, attention-deficit/hyperactivity disorder (ADHD) and Down syndrome. More information about the institute and its Distinguished Lecturer Series, including previous presentations in this series, is available on the Web at

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Local foundation awards $1.25 million to MIND Institute to study rare genetic condition - UC Davis Health


Xlife Sciences AG: Collaboration with the University of Marburg – Yahoo Finance

Thursday, June 24th, 2021

Inventum Genetics GmbH and Universitt Marburg agree on a collaboration

The project company of Xlife Sciences AG Inventum Genetics GmbH has signed a collaboration agreement with the Philipps-University of Marburg. In this way, Inventum Genetics has the exclusive opportunity to develop new therapeutic targets using high-quality genetic data.

ZUERICH, SWITZERLAND / ACCESSWIRE / June 22, 2021 / The cooperation between Inventum Genetics and the University of Marburg is a long-term agreement. In a first projects, new therapeutic targets and biomarkers for oncological, neurodegenerative and age-related diseases are be identified using the latest genetic and molecular biological processes. Oliver R. Baumann, CEO der Xlife Sciences, is delighted with the additional prospects for drug development: "All common diseases, like the majority of all oncological, neurodegenerative and age-associated diseases, are multifactorial in cause, not just caused by a singular genetic defect. Rather, multifactorial diseases are characterized by the fact that they are based on (exogenous) environmental factors and (endogenous) genetic risk factors. In this particular project with the University of Marburg, cellular disease mechanisms of multifactorial diseases are to be elucidated. For this purpose, cells are stimulated with exogenous risk factors. It will then be examined how the cells react to it depending on their genetic makeup."

The agreement with the Philipps-University of Marburg gives the university the right to pursue the results achieved in its own research and to industrialize them, provided Inventum Genetics does not use the results itself. In this case, Inventum Genetics would benefit from the royalties generated by the university.

About the Philipps-University MarburgThe Institute for Human Genetics at the Faculty of Medicine at the Philipps-University of Marburg, under the leadership of Professor Dr. Johannes Schumacher is well recognized by high-ranking publications in research in the field of human genetics. The institute operates a molecular laboratory with high quality equipment and is therefore able to deal with complex issues in the context of molecular genetic research.

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About Inventum Genetics GmbHInventum Genetics GmbH is a subsidiary of Xlife Sciences AG, which is active in research, development, manufacturing and the sale of medical and biotechnological products, especially in the field of genetics. For more information, please visit:

About Xlife Sciences AGXlife Sciences AG is a Swiss company with focus on investing in promising technologies in the life science industry. Xlife Sciences AG is building the bridge from research and development to healthcare markets by supporting researchers and entrepreneurs in positioning, structuring, developing and implementing their concepts. Together with industrial partners or universities, Xlife Sciences AG leads projects through the proof-of-concept phase after an invention disclosure or start-up. Subsequently, the firm focuses on out-licensing or selling the company, often with a combination of a strategic partnership. Xlife Sciences AG offers its investors direct access to the further development of innovative and future-oriented technologies at a very early stage. For more information, please visit:

For media inquiries:Dennis Lennartz, Head Investor Relations, Xlife Sciences AG, Tel. +41 44 385 84 60,

For scientific inquiries:Dr. Frank Plger, Chief Scientific Officer, Xlife Sciences AG, Tel. +41 44 385 84 62,

SOURCE: Xlife Sciences AG

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Xlife Sciences AG: Collaboration with the University of Marburg - Yahoo Finance


Genetics diagnostics in India is on the verge of transformation: Neeraj Gupta, Founder and CEO of Genes2me – The Financial Express

Thursday, June 24th, 2021

'If genetic testing is done at the appropriate stage, some diseases can be prevented, cured or managed better.'

The Indian diagnostics industry has been rapidly evolving over the years and its emerged to be a key component of the healthcare segment. The arrival of Covid-19 pandemic pushed the healthcare industry to the sting worldwide by throwing many challenges, and therefore the diagnostic sector too witnessed a large transition during this phase. Whether its about keeping pace with the concept of telemedicine or addressing the change within the consumer psyche, the diagnostic sector has been facing different challenges with the increase of covid cases. As COVID-19 has spread, Indias diagnostic sector has been battling the virus at the forefront. In conversation with Financial Express Neeraj Gupta, Founder and CEO of Genes2me shared his experience and threw light on the challenges, learnings, and therefore the road ahead for the diagnostic businesses in India. Excerpts:

How has the diagnostic sector evolved since the arrival of Covid-19? Being an industry leader, what were some initial challenges you faced?Previously, the molecular diagnostic sector was not harnessed. We have seen that pandemic pushed the healthcare industry to the edge, but Indias diagnostic sector rose to meet the challenges. As COVID-19 has spread, Indias diagnostic sector has been combating the virus at the forefront. Initially, the Indian health care system was not fully prepared for such a massive crisis like COVID-19. We faced challenges regarding imports for raw materials and logistics due to global supply chain disruptions. This is also one of the reasons why we decided to use our expertise in molecular diagnostics and expand the portfolio into IVD manufacturing.

How has Genes2me come to the forefront during the pandemic? Tell us about your journey of delivering 40 Million covid test kits in India to date.

We take pride in the fact that Genes2Me has been working at the front line from the very first day of the pandemic. We developed several IVD kits, including Real-Time PCR Kits, VTM Kit, RNA Extraction Kits, NGS Kits and multiplexed genotyping assays for COVID-19 detection in a quick turnaround time.

Our ViralDtect-II Real-Time PCR Kit for COVID-19 has been a real turning point. It was the first Made in India Real-Time PCR Kit with comprehensive coverage of three genes that are specific to SARS-COV-2.

Also, there have been reports of new strains of SARS-COV-2 being detected. Genes2Me has developed a Unique Mutation Classifier assay that can rapidly differentiate 40 variants between 16 SARS-CoV-2 strains. This can help in the quick genetic screening of large sections of the population.

Genes2Me have been working tirelessly and have delivered more than 40 million COVID-19 testing kits to date. Also, to meet the sudden demand surge of the second Covid wave, we ramped our manufacturing facility from 9million per month to 6 million per week. In fact, during this time, Genes2Me contributed over 20% of the entire Indian testing needs for RT-PCR.

From where the idea of stepping into manufacturing IVD kits came under the Make in India initiative? What have been the challenges and opportunities?

When the pandemic hit us, not many diagnostic labs had the necessary infrastructure or accreditations to offer Covid testing facilities. As the pandemic gathered force, there was not only demand for faster testing but also testing in much higher volumes. The response to that struggle was the idea behind IVD kits under the Make in India initiative.The Indian government has taken progressive steps to boost the capacities of the domestic IVD sector. Genes2Me is also working to collaborate with the government and prestigious medical institutes to offer services on the innovative classifier panel of SARS-COV-2. In this manner, we can all be better prepared to face the challenges posed by this virus frequently changing genetic makeup.

What changes should diagnostic companies bring to fight the pandemic and meet the current market demand?

Post Covid-19, we have seen the entry of many companies into the Molecular Diagnostics Testing and Kit Manufacturing segment. Unfortunately, not many companies have been able to deliver quality genetic solutions in a fast turnaround time. This is evident from the fact that around 10-15 players used to compete in the Tender queries of IVD products till last year. But now, only 4-5 bidders are participating in the Tender queries as most of the companies have failed to satisfy customer expectations of Quality Product.

If you want to build a sustainable diagnostic company, you should maintain Quality Manufacturing and Testing Standards. Genes2Me has responded by building capacities and training faster to keep up with the surge without compromising the sensitivity of Genetic Solutions.

What have been some recent developments and future plans of Genes2me?

Genes2Me is vigorously working to leverage the large installed base of molecular testing platforms across the globe. With the help of our expertise and access to advanced technologies, we have developed several assays for Infectious diseases, Oncology and Reproductive Health in India. In the past, most of these test panels were import-dependent from other countries.

In addition, under the Make in India initiative, we are working to develop diverse nucleic acid research and diagnostics solutions along with NGS reagents for genome sequencing. Again, these solutions were dependent on import from different nations.

Genes2Me has also ramped up Covid-19 testing facilities by installing more infrastructure, hiring manpower and training them meticulously to ensure smooth functioning. Our advanced high throughput Real-Time PCR testing Lab at Gurgaon, Haryana, has an unmatched capacity to perform 8K-10K tests per day.

How do you see the future of Genetic Diagnostics in India?

India has a population of more than 1.26 billion people, with 26 million births occurring every year. This means that the burden of a genetic disease is very high. With the help of genetic diagnostics, many diseases can be predicted with great accuracy. If genetic testing is done at the appropriate stage, some diseases can be prevented, cured or managed better.

Genetics diagnostics in India is on the verge of transformation. There has been widespread awareness and recognition of the increasing incidence of congenital and hereditary genetic diseases in urban India. More and more people are seeking genetic testing and counselling services. Genetic diagnostic in India will evolve from a niche speciality to a wide scope of applications for complex diseases and personal use.

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Genetics diagnostics in India is on the verge of transformation: Neeraj Gupta, Founder and CEO of Genes2me - The Financial Express


Precision Medicine: Improving Health With Personalized Solutions – BioSpace

Thursday, June 24th, 2021

Cancer treatments are improving as scientists are finding ways to develop new techniques and treatments. One of which is precision medicine, where they have focused on improving patients health using personalized solutions.

RELATED: Oxfords Genomics Pushing the Boundaries of Personalized Medicine

Precision medicine, in the simplest definition, is the way a patient is treated, diagnosed, or prevent disease by checking his/her genetics, environment, or lifestyle.

This type of treatment is related to pharmacogenomics. Where pharmacogenomics is the study of how a persons gene affects his/her response to a drug, it is used to treat a person through effective and safe medication tailored to their genes.

Precision medicine is now commonly used on patients treated with pancreatic cancer, lung cancer, melanoma/skin cancer, and colon cancer. It is also used to detect and treat HIV and cystic fibrosis.

Slowly, it is also seen in treatments for heart diseases, Alzheimers disease, rheumatoid arthritis, and multiple sclerosis.

In cancer patients, most medical facilities treat every patient the same way. However, studies suggest that not everyone responds to treatments the same way. One persons body may react differently with medicines as compared to another person.

Genetics plays a role in treating tumors, and precision medicine promise to tailor treatments based on a persons genes. It is seeing how a tumor would react to certain treatments that may work for other people.

Precision medicine can be used in the prevention and prediction of disease and management and treatment. Here are some examples of how it is used to treat, prevent, or treat people in a practical setting.

Checking your familys history of diseases and illnesses can somehow determine what you are capable of acquiring. If a family member has a history of cancer, heart diseases, diabetes, high blood pressure, or other chronic diseases, there is a high chance of you getting it.

With this data and information, a doctor can create treatment plans to prevent these from happening to you.

For example, when the doctor finds out that any of your family members had breast cancer, then the chances of you having it is likely. The doctor will then decide for you to have regular mammograms to check for any signs.

Newborns (usually right after theyre conceived) are screened where blood samples are taken. This test will check if they have any pre-existing conditions acquired from their parents, check hearing capabilities or heart defects, among others.

This way, the baby will be treated accordingly if any crucial or life-threatening conditions are seen.

For example, the newborn screening shows Baby Mary has severe combined immunodeficiency (SCID), she will receive a bone marrow transplant immediately to battle her condition. SCID is life-threatening to babies since its responsible for fighting off infections.

Personal trackers such as smartwatches or other mobile devices that check on your health can be lifesavers and be tools for precision medicine.

For example, a person is notified by his smart device that he is experiencing abnormal heart rates even if he has no family history of any heart condition. He then goes to see a doctor because of this and has been diagnosed with atrial fibrillation. This device could have saved his life because that condition can lead to a stroke. Now, he can treat his condition before it worsens.

Genomic sequencing can be used to control and track-out infectious diseases. Similar to whats been used to track COVID-19, this approach shows a DNA of a germ or virus where scientists have the opportunity to learn more about it and find a treatment a cure for it.

An example of this is the COVID-19, where scientists were able to extract samples from those infected with the virus and learn about it and find vaccines and cures for it, which is now slowly happening to us.

As a treatment, tumor profiling is genetic testing of a tumor. It is a way for doctors to choose which kind of treatment they would use for a condition. They would know from this process if cancer will return or would need radiation or chemotherapy.

For example, Jennys breast cancer returned and is diagnosed again. But her tumor profiling reveals she has triple-negative breast cancer. Her approach to this, along with her doctors, is a more aggressive one, including chemotherapy, radiation, and mastectomy.

RELATED: FDA Approves GSKs Checkpoint Inhibitor Jemperli for Endometrial Cancer

As mentioned above, pharmacogenomics studies how a person reacts to a certain treatment based on their genes. Doctors using this treatment can gauge if a certain medicine can be effective or not based on a patients history. They can also determine if the patient will experience any serious side effects.

For example, John needs to undergo Fluorouracil (5-FU), which is a type of chemotherapy. But if John has a low level of an enzyme called dihydropyrimidine dehydrogenase (DPD), which helps metabolize fluorouracil in the body, the doctors would need to check on him using pharmacogenomics. If he has a low dose of fluorouracil, an oncologist will decrease the dosage in the chemotherapy to prevent any serious side effects.

With these examples revealed, some facilities and companies provide precision medicine to improve the living conditions of patients treated with different diseases.

ExactCure is a French start-up that combines artificial intelligence with precision medicine to create flawless software for the use of drugs to be used by patients depending on their kidney status, genotype, gender, or age.

Patients use this service by inputting their data, and ExactCure will give the necessary medications based on the information provided.

Tepthera is a Swiss start-up that focuses on cancer immunotherapy, infectious and auto-immune diseases.

Their focus concerning precision medicine is on identifying T cell antigens for better and personalized therapies and treatment.

Caris Life Sciences is a molecular science company that focuses on precision medicine in oncology. They are working on the development of innovative therapeutics and advance potential treatments for cancer in the clinic.

They develop profiling assays for oncology that scan DNA, RNA and proteins to reveal a molecular blueprint to help physicians determine the best course of treatment for cancer patients.

Precigen is a Maryland-based company that is advancing its UltraCAR-T cell therapy approach to treating cancer.

They are now developing next-generation gene and cell therapies that can change the treatment paradigm in immuno-oncology, autoimmune disorders and infectious diseases.

There are numerous ways to treat diseases and medical conditions with the use of precision medicine. Scientists are continually finding out ways to improve patients lives by using their traits.

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Precision Medicine: Improving Health With Personalized Solutions - BioSpace


Half of Portland areas 22 top National Merit winners hail from just 2 schools – OregonLive

Thursday, June 24th, 2021

Across metro Portland, 22 students from 10 public and private high schools have won the coveted $2,500 National Merit scholarships given to students who show exceptional promise.

Half of those 2021 winners attended just two high schools: Sunset and Westview, both in the Beaverton School District.

Three other high schools had two winners each: the private Jesuit and Catlin Gabel schools and Lake Oswego High.

Winners of the $2,500 scholarships are judged the best of the best among National Merit Scholars, with what the scholarship organization says are the strongest combination of accomplishments, skills and potential for success in college. Panels of high school counselors and college admission officers pick them based on grades, difficulty of courses taken, standardized test scores, an essay and recommendations from a teacher and their high school.

Normally, as happened this year, National Merit officials limit that to 26 students across Oregon. In addition to the 22 winners from the Portland area, students in Ashland, Bend, Eugene and Silverton also made the elite achiever list.

The National Merit Corporation provides extremely limited information about winners, and The Oregonian/OregonLive found most of this information through independent research. Some school officials, including those at Sunset High, did not respond to requests for information about their winning students.

Here are the winning Portland-area students with additional information as available:

Catlin Gabel

Sophie Kruse, senior class president at Catlin Gabel, is headed to Columbia University to study engineering.

Sophia Kruse

She was a state leader in the Students Demand Action office, which mobilizes and educates voters about gun violence, and was elected senior class president at Catlin Gabel. She competed for four years as a member of Lincoln Highs varsity lacrosse team and was named player of the year in Portland Public Schools her senior year. She competed on Catlins cross country team and its soccer team, which won two state championships. She worked on her schools environmental action team all four years of high school. She will attend Columbia University, where she plans to study engineering.

Tiffany Toh, a standout in debat and robotics, is headed to Yale University.

Tiffany Toh

During high school, she was interested in music and debate and was known for being extremely energetic, according to the Catlin website. She served as a three-year member and eventual co-leader of the winning robotics team, The Flaming Chickens. She was a member of the varsity swim team and served as a school ambassador. As a senior, she was named one of 10 Deans List students among 90,000 who competed in events leading to the international high school robotics competition. She is headed to Yale University and told National Merit officials she is likely to major in biomedical engineering.

Krishna Home school

Gopal Goel, who placed fourth in the nation's oldest and most prestigious math and science competition for high school seniors, is headed to MIT to study math and physics.

Gopal Goel

He won $100,000 the nations oldest and most prestigious science and math competition for high school seniors for math research that made connections between two subjects regarding randomness and probability. He told contest organizers he hopes his work will aid in the search for the true nature of quantum gravity, more commonly known as the theory of everything. He can solve a Rubiks cube even while blindfolded. He won a silver medal at the 2020 International Math Olympiad. He mentored students on the U.S. Physics Olympiad team. He is headed to the Massachusetts Institute of Technology, better known as MIT, and plans to study math and physics.


Eliza Daigle, who reveled in lacrosse, science and volunteerism during high school, is headed to Whitman College, where she plans to study biochemistry and related fields.

Eliza Daigle

She earned class academic achievement awards in science and Spanish. She served as co-captain of the womens varsity lacrosse team, which won its first state championship in 2019 and won again this year. She took part in Oregon Health & Science Universitys partnership in scientific inquiry program, which introduces high school students to the scientific process and laboratory research. In turn, she served as a co-leader of Jesuits junior scientists program, which aims to encourage a love of science through fun experiments that develop problem solving and critical thinking skills. She volunteered at Trinity Episcopal Cathedral and contributed more than 100 hours of service to Good Samaritan Medical Center. She is headed to Whitman College, where she will play lacrosse and plans to major in biochemistry, biophysics and molecular biology.

Passionate about computer science, problem solving and research, Marissa Kuo is headed to Santa Clara University to study computer science and engineering.

Marissa Kuo

She received the outstanding applied chemistry award from the Portland chapter of the American Chemical Society at the Northwest Science Fair for her research on green chemistry methods for degrading neurotoxic herbicides. She interned at Portland State University in a computer science lab where she studied computer algorithms for night vision. She helped lead her schools Asian Student Union and research club. She competed on the Jesuit swim team. Passionate about computer science, problem solving, and research, she is headed to Santa Clara University to study computer science and engineering.


Roselyn Dai

She volunteered as a peer intervention specialist at the Portland-based teen crisis hotline YouthLine and was honored by the Oregon Chinese Coalition for her volunteerism. She also volunteered at two local medical centers and was a multi-year member of her schools speech and debate team. She told National Merit officials she is likely to study medicine.

Lake Oswego

Jackie Booth, who played varsity tennis and taught younger students math for three years, is headed to the University of Southern California.

Jaqueline Jackie Booth

She competed all four years on the varsity tennis team and volunteered regularly at Portland Rescue Mission and other community organizations. She co-led the schools fellowship club and worked as a math instructor at Mathnasium Learning Center since her sophomore year. She is headed to the University of Southern California, where she plans to major in philosophy, politics and law.

George Danzelaud, a poet, violin player, singer-songwriter and varsity sprinter, is headed to the University of Southern California to study business and computer science.Randal Leitch Photography

George Danzelaud

A varsity sprinter who loves both science and the arts, he was elected president of his senior class. He performed a virtual concert with his brother to raise money for the Oregon Humane Society in the wake of last summers deadly wildfires. He performed solo violin at Carnegie Hall, won a gold award for his poetry and is a self-taught guitarist and singer who published three songs on iTunes and Spotify. He is headed to the University of Southern California and plans to double major in computer science and business.

Oregon Episcopal School

Lila Schweinfurth

She was the state winner of U.S. Stockholm Junior Water Prize. Her research on predicting harmful algal blooms to improve water quality also put her among the five Oregon students named semifinalists in the nations oldest and most prestigious math and science compeitions for high school seniors. She plays violin and plans to study science and prepare for a career involving research, according to National Merit officials.


Anika Gupta is passionate about the real-world applications of science and technology and has deeply researched aquaponics in pursuit of sustainably growing food. She will attend the University of Southern California, where she plans to double major in business and computer science.

Anika Gupta

Anika Gupta is passionate about equity and real-world applicability of science and technology. Four years ago, she started a classroom aquaponics project that shes since grown into a bioengineering syllabus used by more than 700 student researchers. Shes working alongside the NASA Ames Research Center to learn to grow food sustainably. Anika also co-founded Project Portland Carry, a nonprofit to support students during COVID through educational helplines and accessible lunch delivery. As president of the Sunset speech and debate club, Anika rebuilt her club amid what she called existential challenges and led Sunset to a state championship victory this spring. She personally was named Oregons top extemporaneous speaker. She is also a recipient of the prestigious Coca-Cola Scholarship. She is headed to the University of Southern California, where she plans to study business and computer science.

Amuthan Amu Ilavarasan

He won a scholarship for winning an art competition. He designs and sells t-shirts. He told National Merit officials he was likely to study environmental science.

Eric Kim conducted two years of research on bioinformatics at Oregon Health & Science University, plays clarinet and is a competitive Taekwondo sparring athlete. He is headed to Columbia University.

Eric Kim

He founded and led the Sunset Science Ambassadors program that matches high school science scholars with fifth-graders to mentor them through hands-on science projects. He is one of five Oregon students named a Regeneron Scholar for his biology research as part of the nations oldest and most prestigious science and math competitions for high school seniors. A longtime volunteer for hard-of-hearing individuals, he designed see-through face masks to aid their communication during the pandemic and helped people all over the country get materials and instructions needed to make them. He conducted two years of research on bioinformatics at Oregon Health & Science University, plays clarinet and is a competitive Taekwondo sparring athlete. He is headed to Columbia University.

Kevin Seog led Oregon's top team in the Tests of Engineering Aptitude, Mathematics, and Science contest in 2020 and 2021. He is headed to Berkeley, where he plans to double major in business and computer science.

Kevin Minjay Seog

He co-led Oregons top team in the Tests of Engineering Aptitude, Mathematics, and Science contest this spring and last. He provided illustrations for a college-level economics book focusing on risk and insurance. He plays piano and guitar. He is headed to the University of California, Berkeley, where he intends to double major in computer science and business.

Stan Wing founded and led a nonprofit dedicated to providing free debate opportunities to middle schoolers across Oregon. He is headed to New York Universitys Stern School of Business to study business with concentrations in finance and econometrics.

Stanley Wang

During high school, he honed his skills as a landscape and portrait photographer. He competed as a member of Sunsets golf team. His primary extracurricular involvement during high school was with Health Occupations Students of America, an organization that holds state and international business competitions and conferences for high school students and its health careers counterpart. He helped found and served as president of the Oregon Middle School Speech and Debate League, a nonprofit dedicated to providing free debate opportunities to middle schoolers across Oregon. He is headed to New York Universitys Stern School of Business to study business with concentrations in finance and econometrics.

Lele Yang was a frequent volunteer during high school, including leading a group that taught computer science lessons to middle and high school students. She is headed to Penn State University, where she will take part in an accelerated premedical and medical program.

Lele Zixin Yang

Yang was president of Tech4Girls, in which she taught computer science lessons to middle and high school students. She gathered resources and grants for the program and also trained student teachers to help with the classes. She is an artist and a competitive fencer. Yang will enter the accelerated premedical-medical program at Penn State University in the fall.


Aven Sadighi, who competed in sports and business, is headed to Oregon State Universitys Honors College to study computer science with a focus on artificial intelligence.

Aven Sadighi

The Tualatin High valedictorian volunteered for three years tutoring fellow students. He competed and medaled at the 2020 Health Occupations Students of America state conference. He spent three years as a member of Pack Leaders, the student group that aids incoming freshmen in navigating their first year of high school. He competed freshman year in cross country, baseball and track and spent many hours volunteering in the community as a member of the National Honors Society. Hes headed to Oregon State Universitys Honors College to study computer science with a focus on artificial intelligence.

West Linn

Gillian Herbert

Herbert plans to study public policy in college, National Merit officials indicated.


Sangana Ilango

Ilango won a Congressional App Challenge for her mobile phone application, Spoiler Alert!, that helps consumers determine if food and medications are safe to use. She founded a club called CodeHERS to help encourage elementary girls to try computer coding. She worked as a research assistant at Oregon Health & Science University in summer 2019, interned at Mentor Graphics in summer 2020 and is interning with the product management team at Oregon Sesame this summer. Shes headed to the University of Southern California and will major in computer science.

Adam Jones

He conducted genomic research in Portland State Universitys Extreme Virus Lab. He competed at least one year for his high schools baseball, track and soccer teams. He is likely to study engineering in college, according to National Merit officials.

Pranav Mandyam, who placed in the top 10 in an international high school competition for biomedical laboratory science, is headed to Rice University to study cell biology and genetics.

Pranav Mandyam

He conducted research on acutemyeloidleukemia at Oregon Health & Science Universitys Knight Cancer Institute for two years. He was named one of the top 10 national finalists biomedical laboratory sciences by the Health Occupations Students of America. He was twice named a USA Biolympiadsemifinalist. He captained Westviews Science Olympiad Team, which made it to nationals. He volunteered at Legacy Good SamaritanHospital and received national-level recognition in multiple math competitions. He plays piano and received American College of Musicians high school diploma in social music. He is headed to Rice University, where he plans to major in biosciences with a concentration in cell biology and genetics.

Sophie Ong competed in speech and debate and did two years of research analyzing cancer genome databases and studying the impact of mRNA on tumors. At the University of California, Los Angeles, she plans to study genetics and related fields on a premed track.

Sophia Joy Ong

She competed as a member of Westviews speech and debate team. She served as co-president of Westviews chapter of Health Occupations Students of America and won that groups state championship in prepared speaking. She conducted research on cancer for two years at Oregon Health & Science University. She was also a captain of the school speech and debate team and competed at tournaments on both the state and national level. She is an avid guitar player and holds a third degree black belt in taekwondo. Shes headed to the University of California, Los Angeles, to study microbiology, immunology, and molecular genetics.

John Wang

He competed in and volunteered at many middle and high school robotics competitions, including serving as captain of his high school team. He competed as a member of Westviews varsity cross country and track teams. He was captain of the science club and president of the schools quiz bowl team, according to his profile on LinkedIn. He helped conduct research as an intern at Portland State Universitys Extreme Virus Lab. He is likely to study bioinformatics in college, National Merit officials said.

Note: If you know, or better are, one of these students, and I dont have a photo or full information, please contact me so I can make the coverage more complete.

-- Betsy Hammond;; @chalkup

Excerpt from:
Half of Portland areas 22 top National Merit winners hail from just 2 schools - OregonLive


Investing in stem cells, the building blocks of the body – MoneyWeek

Thursday, June 24th, 2021

Imagine being able to reverse blindness, cure multiple sclerosis (MS), or rebuild your heart muscles after a heart attack. For the past few decades, research into stem cells, the building blocks of tissues and organs, has raised the prospect of medical advances of this kind yet it has produced relatively few approved treatments. But that could be about to change, says Robin Ali, professor of human molecular genetics of Kings College London. Just as gene therapy went from being a fantasy with little practical value to becoming a major area of treatment, stem cells are within a few years of reaching the medical mainstream. Whats more, developments in synthetic biology, the process of engineering and re-engineering cells, could make stem cells even more effective.

Stem cells are essentially the bodys raw material: basic cells from which all other cells with particular functions are generated. They are found in various organs and tissues, including the brain, blood, bone marrow and skin. The primary promise of adult stem cells lies in regenerative medicine, says Professor Ali.

Stem cells go through several rounds of division in order to produce specialist cells; a blood stem cell can be used to produce blood cells and skin stem cells can be used to produce skin cells. So in theory you can take adult stem cells from one person and transplant them into another person in order to promote the growth of new cells and tissue.

In practice, however, things have proved more complicated, since the number of stem cells in a persons body is relatively limited and they are hard to access. Scientists were also previously restricted by the fact that adult stem cells could only produce one specific type of cell (so blood stem cells couldnt produce skin cells, for instance).

In their quest for a universal stem cell, some scientists initially focused on stem cells from human embryos, but that remains a controversial method, not only because harvesting stem cells involves destroying the embryo, but also because there is a much higher risk of rejection of embryonic stem cells by the recipients immune system.

The good news is that in 2006 Japanese scientist Shinya Yamanaka of Kyoto University and his team discovered a technique for creating what they call induced pluripotent stem cells (iPSC). The research, for which they won a Nobel Prize in 2012, showed that you can rewind adult stem cells development process so that they became embryo-like stem cells. These cells can then be repurposed into any type of stem cells. So you could turn skin stem cells into iPSCs, which could in turn be turned into blood stem cells.

This major breakthrough has two main benefits. Firstly, because iPSCs are derived from adults, they dont come with the ethical problems associated with embryonic stem cells. Whats more, the risk of the body rejecting the cells is much lower as they come from another adult or are produced by the patient. In recent years scientists have refined this technique to the extent that we now have a recipe for making all types of cells, as well as a growing ability to multiply the number of stem cells, says Professor Ali.

Having the blueprint for manufacturing stem cells isnt quite enough on its own and several barriers remain, admits Professor Ali. For example, we still need to be able to manufacture large numbers of stem cells at a reasonable cost. Ensuring that the stem cells, once they are in the recipient, carry out their function of making new cells and tissue remains a work in progress. Finally, regulators are currently taking a hard line towards the technology, insisting on exhaustive testing and slowing research down.

The good news, Professor Ali believes, is that all these problems are not insurmountable as scientists get better at re-engineering adult cells (a process known as synthetic biology). The costs of manufacturing large numbers of stem cells are falling and this can only speed up as more companies invest in the area. There are also a finite number of different human antigens (the parts of the immune system that lead a body to reject a cell), so it should be possible to produce a bank of iPSC cells for the most popular antigen types.

While the attitude of regulators is harder to predict, Professor Ali is confident that it needs only one major breakthrough for the entire sector to secure a large amount of research from the top drug and biotech firms. Indeed, he believes that effective applications are likely in the next few years in areas where there are already established transplant procedures, such as blood transfusion, cartilage and corneas. The breakthrough may come in ophthalmology (the treatment of eye disorders) as you only need to stimulate the development of a relatively small number of cells to restore someones eyesight.

In addition to helping the body repair its own tissues and organs by creating new cells, adult stem cells can also indirectly aid regeneration by delivering other molecules and proteins to parts of the body where they are needed, says Ralph Kern, president and chief medical officer of biotechnology company BrainStorm Cell Therapeutics.

For example, BrainStorm has developed NurOwn, a cellular technology using peoples own cells to deliver neurotrophic factors (NTFs), proteins that can promote the repair of tissue in the nervous system. NurOwn works by modifying so-called Mesenchymal stem cells (MSCs) from a persons bone marrow. The re-transplanted mesenchymal stem cells can then deliver higher quantities of NTFs and other repair molecules.

At present BrainStorm is using its stem-cell therapy to focus on diseases of the brain and nervous system, such as amyotrophic lateral sclerosis (ALS, also known as Lou Gehrigs disease), MS and Huntingtons disease. The data from a recent final-stage trial suggests that the treatment may be able to halt the progression of ALS in those who have the early stage of the disease. Phase-two trial (the second of three stages of clinical trials) of the technique in MS patients also showed that those who underwent the treatment experienced an improvement in the functioning of their body.

Kern notes that MSCs are a particularly promising area of research. They are considered relatively safe, with few side effects, and can be frozen, which improves efficiency and drastically cuts down the amount of bone marrow that needs to be extracted from each patient.

Because the manufacture of MSC cells has become so efficient, NurOwn can be used to get years of therapy in one blood draw. Whats more, the cells can be reintroduced into patients bodies via a simple lumbar puncture into the spine, which can be done as an outpatient procedure, with no need for an overnight stay in hospital.

Kern emphasises that the rapid progress in our ability to modify cells is opening up new opportunities for using stem cells as a molecular delivery platform. Through taking advantage of the latest advances in the science of cellular therapies, BrainStorm is developing a technique to vary the molecules that its stem cells deliver so they can be more closely targeted to the particular condition being treated. BrainStorm is also trying to use smaller fragments of the modified cells, known as exosomes, in the hope that these can be more easily delivered and absorbed by the body and further improve its ability to avoid immune-system reactions to unrelated donors. One of BrainStorms most interesting projects is to use exosomes to repair the long-term lung damage from Covid-19, a particular problem for those with long Covid-19. Early preclinical trials show that modified exosomes delivered into the lungs of animals led to remarkable improvements in their condition. This included increasing the lungs oxygen capacity, reducing inflammation, and decreasing clotting.

Overall, while Kern admits that you cant say that stem cells are a cure for every condition, there is a lot of evidence that in many specific cases they have the potential to be the best option, with fewer side effects. With Americas Food and Drug Administration recently deciding to approve Biogens Alzheimers drug, Kern thinks that they have become much more open to approving products in diseases that are currently considered untreatable. As a result, he thinks that a significant number of adult stem-cell treatments will be approved within the next five to ten years.

Adult stem cells and synthetic biology arent just useful in treatments, says Dr Mark Kotter, CEO and founder of Bit Bio, a company spun out of Cambridge University. They are also set to revolutionise drug discovery. At present, companies start out by testing large numbers of different drug combinations in animals, before finding one that seems to be most effective. They then start a process of clinical trials with humans to test whether the drug is safe, followed by an analysis to see whether it has any effects.

Not only is this process extremely lengthy, but it is also inefficient, because human and animal biology, while similar in many respects, can differ greatly for many conditions. Many drugs that seem promising in animals end up being rejected when they are used on humans. This leads to a high failure rate. Indeed, when you take the failures into account, it has been estimated that it may cost as much to around $2bn to develop the typical drug.

As a result, pharma companies are now realising that you have to insert the human element at a pre-clinical stage by at least using human tissues, says Kotter. The problem is that until recently such tissues were scarce, since they were only available from biopsies or surgery. However, by using synthetic biology to transform adult stem cells from the skin or other parts of the body into other types of stem cells, researchers can potentially grow their own cells, or even whole tissues, in the laboratory, allowing them to integrate the human element at a much earlier stage.

Kotter has direct experience of this himself. He originally spent several decades studying the brain. However, because he had to rely on animal tissue for much of his research he became frustrated that he was turning into a rat doctor.

And when it came to the brain, the differences between human and rat biology were particularly stark. In fact, some human conditions, such as Alzheimers, dont even naturally appear in rodents, so researchers typically use mice and rats engineered to develop something that looks like Alzheimers. But even this isnt a completely accurate representation of what happens in humans.

As a result of his frustration, Kotter sought a way to create human tissues. It initially took six months. However, his company, Bit Bio, managed to cut costs and greatly accelerate the process. The companys technology now allows it to grow tissues in the laboratory in a matter of days, on an industrial scale. Whats more, the tissues can also be designed not just for particular conditions, such as dementia and Huntingdons disease, but also for particular sub-types of diseases.

Kotter and Bit Bio are currently working with Charles River Laboratories, a global company that has been involved in around 80% of drugs approved by the US Food and Drug Administration over the last three years, to commercialise this product. They have already attracted interest from some of the ten largest drug companies in the world, who believe that it will not only reduce the chances of failure, but also speed up development. Early estimates suggest that the process could double the chance of a successful trial, effectively cutting the cost of each approved drug by around 50% from $2bn to just $1bn. This in turn could increase the number of successful drugs on the market.

Two years ago my colleague Dr Mike Tubbs tipped Fate Therapeutics (Nasdaq: FATE). Since then, the share price has soared by 280%, thanks to growing interest from other drug companies (such as Janssen Biotech and ONO Pharmaceutical) in its cancer treatments involving genetically modified iPSCs.

Fate has no fewer than seven iPSC-derived treatments undergoing trials, with several more in the pre-clinical stage. While it is still losing money, it has over $790m cash on hand, which should be more than enough to support it while it develops its drugs.

As mentioned in the main story, the American-Israeli biotechnology company BrainStorm Cell Therapeutics (Nasdaq: BCLI) is developing treatments that aim to use stem cells as a delivery mechanism for proteins. While the phase-three trial (the final stage of clinical trials) of its proprietary NurOwn system for treatment of Amyotrophic lateral sclerosis (ALS, or Lou Gehrigs disease) did not fully succeed, promising results for those in the early stages of the disease mean that the company is thinking about running a new trial aimed at those patients. It also has an ongoing phase-two trial for those with MS, a phase-one trial in Alzheimers patients, as well as various preclinical programmes aimed at Parkinsons, Huntingtons, autistic spectrum disorder and peripheral nerve injury. Like Fate Therapeutics, BrainStorm is currently unprofitable.

Australian biotechnology company Mesoblast (Nasdaq: MESO) takes mesenchymal stem cells from the patient and modifies them so that they can absorb proteins that promote tissue repair and regeneration. At present Mesoblast is working with larger drug and biotech companies, including Novartis, to develop this technique for conditions ranging from heart disease to Covid-19. Several of these projects are close to being completed.

While the US Food and Drug Administration (FDA) controversially rejected Mesoblasts treatment remestemcel-L for use in children who have suffered from reactions to bone-marrow transplants against the advice of the Food and Drug Administrations own advisory committee the firm is confident that the FDA will eventually change its mind.

One stem-cell company that has already reached profitability is Vericel (Nasdaq: VCEL). Vericels flagship MACI products use adult stem cells taken from the patient to grow replacement cartilage, which can then be re-transplanted into the patient, speeding up their recovery from knee injuries. It has also developed a skin replacement based on skin stem cells.

While earnings remain relatively small, Vericel expects profitability to soar fivefold over the next year alone as the company starts to benefit from economies of scale and runs further trials to expand the range of patients who can benefit.

British micro-cap biotech ReNeuron (Aim: RENE) is developing adult stem-cell treatments for several conditions. It is currently carrying out clinical trials for patients with retinal degeneration and those recovering from the effects of having a stroke. ReNeuron has also developed its own induced pluripotent stem cell (iPSC) platform for research purposes and is seeking collaborations with other drug and biotech companies.

Like other small biotech firms in this area, it is not making any money, so it is an extremely risky investment although the rewards could be huge if any of its treatments show positive results from their clinical trials.

More here:
Investing in stem cells, the building blocks of the body - MoneyWeek


New study finds low levels of a sugar metabolite associates with disability and neurodegeneration in multiple sclerosis – Newswise

Friday, May 14th, 2021

Newswise Irvine, CA May 13, 2021 A new University of California, Irvine-led study finds low serum levels of the sugar N-acetylglucosamine (GlcNAc), is associated with progressive disability and neurodegeneration in multiple sclerosis (MS).

The study, done in collaboration with researchers from Charit Universittsmedizin Berlin, Germany, and the University of Toronto, Canada, is titled, Association of a Marker of N-Acetylglucosamine With Progressive Multiple Sclerosis and Neurodegeneration, The study was published this week in JAMA Neurology.

The study suggests that GlcNAc, which has been previously shown to promote re-myelination and suppress neurodegeneration in animal models of MS, is reduced in serum of progressive MS patients and those with worse clinical disability and neurodegeneration.

We found the serum levels of a marker of GlcNAc was markedly reduced in progressive MS patients compared to healthy controls and patients with relapsing-remitting multiple sclerosis explained Michael Demetriou, MD, PhD, FRCP(C), professor of neurology, microbiology and molecular genetics at UCI School of Medicine, and senior author on the paper.

First author of the study, Alexander Brandt, MD, adjunct associate professor of neurology at the UCI School of Medicine and previously associated with the Experimental and Clinical Research Center, Charit Universittsmedizin Berlin and Max Delbrueck Center for Molecular Medicine, Germany, added, Lower GlcNAc serum marker levels correlated with multiple measures of neurodegeneration in MS, namely worse expanded disability status scale scores, lower thalamic volume, and thinner retinal nerve fiber layer. Also, low baseline serum levels correlated with a greater percentage of brain volume loss at 18 months, he said.

GlcNAc regulates protein glycosylation, a fundamental process that decorates the surface of all cells with complex sugars. Previous preclinical, human genetic and ex vivo human mechanistic studies revealed that GlcNAc reduces proinflammatory immune responses, promotes myelin repair, and decreases neurodegeneration. Combined with the new findings, the data suggest that GlcNAc deficiency may promote progressive disease and neurodegeneration in patients with MS. However, additional human clinical studies are required to confirm this hypothesis.

Our findings open new potential avenues to identify patients at risk of disease progression and neurodegeneration, so clinicians can develop and adjust therapies accordingly, said Michael Sy, MD, PhD, assistant professor in residence in the Department of Neurology at UCI and a co-author of the study.

MS is characterized by recurrent episodes of neurologic dysfunction resulting from acute inflammatory demyelination. Progressive MS is distinguished by continuous inflammation, failure to remyelinate, and progressive neurodegeneration, causing accrual of irreversible neurologic disability. Neurodegeneration is the major contributor to progressive neurological disability in MS patients, yet mechanisms are poorly understood and there are no current treatments for neurodegeneration.

This study was funded in part by a grant from the National Institute of Allergy and Infectious Disease and the National Center for Complimentary and Integrative Health as well as the Excellence Initiative and the Excellence Strategy of the German Federal and State Governments.

About the UCI School of Medicine

Each year, the UCI School of Medicine educates more than 400 medical students, and nearly 150 doctoral and masters students. More than 700 residents and fellows are trained at UCI Medical Center and affiliated institutions. The School of Medicine offers an MD; a dual MD/PhD medical scientist training program; and PhDs and masters degrees in anatomy and neurobiology, biomedical sciences, genetic counseling, epidemiology, environmental health sciences, pathology, pharmacology, physiology and biophysics, and translational sciences. Medical students also may pursue an MD/MBA, an MD/masters in public health, or an MD/masters degree through one of three mission-based programs: the Health Education to Advance Leaders in Integrative Medicine (HEAL-IM), the Leadership Education to Advance Diversity-African, Black and Caribbean (LEAD-ABC), and the Program in Medical Education for the Latino Community (PRIME-LC). The UCI School of Medicine is accredited by the Liaison Committee on Medical Accreditation and ranks among the top 50 nationwide for research. For more information, visit

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New study finds low levels of a sugar metabolite associates with disability and neurodegeneration in multiple sclerosis - Newswise


Cernadas-Martn Is a Champion for Marine and Human Diversity | | SBU News – Stony Brook News

Friday, May 14th, 2021

Sara Cernadas-Martn with the research vessel Seawolf behind her. Photo by John Griffin

Sara Cernadas-Martn is a self-described interdisciplinary scientist with knowledge spanning the fields of marine biology, molecular genetics, and conservation ecology, with an M.S. and a PhD from Stony Brook University.

Beyond her passion for studying and preserving the diversity of marine life in our local waters, Cernadas-Martn is equally as dedicated to fostering diversity within the human race, making her the ideal person to serve as co-chair for the School of Marine and Atmospheric Science (SoMAS) Diversity, Equity and Inclusivity Committee.

As an Hispanic scientist, I am committed to increasing diversity on campus and making an extra effort to promote higher education within the Hispanic community and other underrepresented racial, ethnic and social groups, Cernadas-Martn said.Hispanics are highly underrepresented in undergraduate and graduate schools in America, which is especially discouraging when considering that the Hispanic population is the largest ethnic minority group in the country. I strongly believe that having a diverse student body benefits everyone involved.

For her masters project, Sara studied the distribution of ammonia oxidizing bacteria in the Cariaco Basin near Venezuela, an oxygen minimum zone with a permanently anoxic (oxygen-depleted) deep layer, under the supervision of Professor Gordon Taylor. Her PhD thesis focused on the multidisciplinary ecological characterization of summer flounder (Paralichthys dentatus) in Shinnecock Bay using acoustic telemetry, diet analysis and otolith (earstones in bony fishes) microchemistry under the supervision of Professor Ellen Pikitch.

Cernadas-Martn is currently working with the Institute for Ocean Conservation Science (IOCS) as a senior postdoctoral associate at Stony Brook, where her work focuses on managing the research component of ShiRP fisheries (Shinnecock Bay Restoration Program) and establishing a new environmental DNA program for tracking fish species richness in the South Shore Long Island estuaries.

In 2019, Cernadas-Martn was also selected as the recipient of the distinguished Nuria Protopopescu Memorial Teaching Award, presented annually to a graduate student based on demonstrated excellence in teaching, innovation and creativity in instructional plans and materials, and engagement with and dedication to their students.

Although I enjoy working with students of all backgrounds, I have always taken special interest in Latinx students, making sure they felt motivated, included and most importantly, had fun while doing science, she said. At first, many of these students were hesitant to be assertive while in the field or in the classroom. I came to realize, in sharing the same language, I could help students to overcome their natural timidity and become more engaged in their research and learning experience.

Of particular interest to Cernadas-Martn is extending educational opportunities to students from diverse backgrounds, including first-generation college students, international students, and students with a wide range of educational experiences and goals.

Her academic achievements and community involvement, along with her focused effort on student diversity and integration, have been recognized by Stony Brook University with the prestigious W. Burghardt Turner Fellowship, a highly competitive fellowship which acknowledges the academic and research achievements of underrepresented doctoral students and requires a strong commitment to inclusivity and community development.

Another of Cernadas-Martns personal goals is to help improve the integration of international students into the wider academic community.

I remember when I first got to Stony Brook University from Spain. I was in shock, she recalled. I was happy for having made it into graduate school, but at the same time had to deal with a language barrier and being away from my family and friends. The first few months are critical times in the life of an international student and can potentially handicap academic performance.

Cernadas-Martn believes efficient integration is key to helping international students realize that there are opportunities in this new chapter of their lives. During my first years of graduate school, I did my best to help improve social interactions among students in my department, she said. One example were the flamenco nights I hosted once a month at a Spanish restaurant open to everyone in my department, where I was able to share the culinary, musical and folkloric traditions of my culture.

To that end, Cernadas-Martn has volunteered with the Graduate Student Club of her department as the activities coordinator, creating and running a departmental photo competition since 2012, among other undertakings.

Perhaps some of her compassion originated from her own medical struggles.As a college freshman, she overcame bone cancer, which impeded her from attending school. She recovered, but suffered a relapse in the middle of her sophomore year.

During my graduate career I have been, once again, plagued with health issues, which included three major spinal surgeries, she said, adding that the surgeries set back her graduation timeline and consequently constrained the ability of her research grants to cover laboratory costs and living expenses.

However, I was lucky enough to have a few professors, family and friends who supported me and encouraged me to finish my degree, she said. It did take me longer than most people, but I did it. Looking back, I cant thank those people in my life enough. I aim to be a support system for as many students as possible, motivating them to move forward despite setbacks and encouraging them to pursue their passion.

Glenn Jochum

Continued here:
Cernadas-Martn Is a Champion for Marine and Human Diversity | | SBU News - Stony Brook News


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