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Archive for the ‘Molecular Genetics’ Category

Saudi women making their mark in science – Arab News

Tuesday, January 19th, 2021

JEDDAH: Just 30 percent of women worldwide work in science, but Saudis are challenging this long-standing trend.Women represent 58 percent of university students in Saudi Arabia, with many studying in science, technology and engineering and furthering their careers with studies overseas.In a report by the Saudi Education Ministry, women outnumbered men in graduating with a bachelors in biology, information technology, mathematics, statistics, and physics.Universities and research centers have adopted measures to support the inclusion of female scientists.Ambitious, driven and facing challenges along the way to their success, here are the Saudi women scientists who have made a mark in the field for their extraordinary work.Suha KayumResearch engineerWith a career spanning 10 years, Kayum a research engineer with Saudi Aramcos EXPEC Advanced Research Center was tasked with accelerating the evolution of software algorithms to enhance Aramcos reservoir simulator, which helped the company cut costs.Kayum was a developer for the companys in-house basin and seismic simulators. In 2016, she designed and received a patent for an algorithm that enabled the first 1-billion cell basin simulation run.

Dr. Elaf AhmedLab scientistWith a keen research interest in nano-organisms, Ahmeds main focus while conducting postdoctoral work at King Abdullah University for Science and Technology was synthesis of environmental nano materials using electrochemically active biofilms.She later joined the companys Oil and Gas Treatment Division at Aramcos Research and Development Center.Her main focus at the division is to conduct research projects for water treatment technologies and find new ways to treat water found in oil and gas reservoirs.

Dr. Ilham AbuljadayelImmunologistIn what could be one of the most profound achievements by a Saudi scientist, Dr. Ilham discovered the process of retrodifferentiation, a method also known as retrograde differentiation that treats blood diseases.A common process for the maintenance of cell integrity against damaging agents, Dr. Ilham applied her findings in the first preclinical study in 2000 in collaboration with George Washington Medical Center, US, in two animal models of human diseases to study the utility of retrodifferentiated stem cells.Her research has helped treat 390 patients with diseases ranging from sickle cell anaemia, multiple sclerosis, thalassaemia, and hepatitis C among others.Dr. Abeer Al-OlayanPetroleum scientistWith an academic and industrial background in various fields of chemistry spanning over 20 years, Dr. Abeer is a research scientist at Saudi Aramcos EXPEC Advanced Research Center and is responsible for leading its chemicals development initiative.As a fellow at MIT, she submitted a fellowship research abstract that focuses on reducing dependency on food-based chemicals to tackle drilling and subsurface challenges. She has 10 registered patents with the US Patent Office for the development of methods, materials and compositions in drilling and fluid transfer.

Dr. Malak Abed AlthagafiPhysician-scientistDiagnosed with a rare genetic disease at a young age, Althagafi got a first glimpse of what her future could be during her treatment. Her educational path started with the study of genetic diseases in children and led to molecular pathology before she focused on surgical oncology, molecular genetics and neuropathology.Dr. Malak is one of the few American board-certified molecular neuropathologists in the world and has conducted research that focuses on decoding genetic mutations in tumors, specifically brain tumors in children.She became part of the Saudi Human Genome Program in 2014. Her clinical and research interests are mainly in surgical oncology, pathology, molecular genetics pathology and neuropathology, especially its application for treating brain cancers.

Dr. Hind Al-JohaniScientist of physical chemistryHer research interest is in nano-catalysis. In 2017, this Saudi scientist discovered that by using the simple molecule of citrate ions (from citric acid) you could stabilize and control the structure of gold nanoparticles.Using this new discovery, the findings showed that gold can carry drugs through the body without chemical side effects. Attaching antibodies can guide the nanoparticles to specific cells that need treatment. Her findings have had an impact on environmental chemistry where it may also be used for water purification or methods for capturing CO2 emissions.

Dr. Nouf Al-NumairMolecular bioinformatics scientistDubbed the DNA decoder, her research focuses on predicting the early emergence of diseases through genetic mutations.She has achieved this by merging molecular genetics and computer programming to predict the effects of mutations and provide patients with a personalized medical approach to treatment.Using more than seven programming languages to analyze human genes, she has successfully published a number of papers with the findings.Dr. Nouf pursued her career in STEM and is the first Saudi scientist to major in molecular genetics and programming biological information.

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Saudi women making their mark in science - Arab News


Avellino Exceeds 1 Million COVID-19 Tests in 2020 and Welcomes New Executive Team Hires In 2021 – Business Wire

Tuesday, January 19th, 2021

MENLO PARK, Calif.--(BUSINESS WIRE)--Avellino Lab announced today that the company performed over 1 million AvellinoCoV2 COVID-19 tests since March 2020, and has further expanded the companys executive team to drive additional development and commercial growth in 2021. Chief Scientific Officer, Nazneen Aziz, PhD; and Global Head of Sales and Marketing, Joseph Boyd have joined the growing precision medicine company adding additional scientific and commercial expertise.

Nazneen Aziz, PhD; Chief Scientific Officer

Dr. Aziz will lead the Avellino team in product development and the implementation of new generations of gene sequencing technologies. She brings a wealth of expertise to the Chief Scientific Officer role, including work in clinical medicine, clinical research, and product biotech/biopharma product discovery and development.

Prior to joining Avellino, Dr. Aziz served as the Executive Director of the Kaiser Permanente Research Bank, Senior Vice President and Chief Research Officer at Phoenix Childrens Hospital, and the Director of Molecular Medicine at the College of American Pathologists (CAP). Dr. Aziz led the initiative while at CAP to develop clinical lab standards and proficiency testing for conducting next-generation sequencing tests. She is also a co-author on a highly cited (>9,255) guidance document jointly developed by the American College of Medical Genetics and Genomics, Association of Molecular Pathology and CAP on the interpretation of sequence variants.

In her industry career, Dr. Aziz focused on personalized medicine, biomarkers, genetic tests, and development of drugs for cancer and diabetes. Prior to her work in the biotechnology industry, Dr. Aziz was an Assistant Professor at Harvard Medical School and Boston Children's Hospital, where she discovered new genes and their role in polycystic kidney disease.

Dr. Aziz earned a PhD in molecular genetics and MS in biochemistry at the Massachusetts Institute of Technology (MIT). She received a BA in Biological Sciences from Wellesley College.

Avellino Group Chairman Gene Lee said, Dr. Aziz is highly regarded in her career across genetic and biotechnology fields as a professor, researcher, and leader. We are honored to have Dr. Aziz join our team and look forward to the growth in our genetic diagnostic testing and therapy portfolio under her leadership.

Joseph Boyd, Global Head, Sales and Marketing

Mr. Boyd will lead Avellinos sales and marketing efforts on a global basis, with an initial emphasis on expanding commercialization in the United States. Joe has over 20 years of global marketing, strategy, product development and general management expertise in biotech, pharmaceutical, and medical device industries. Most recently, Mr. Boyd was the Executive Director and Xiidra Market Development Lead at Novartis Pharmaceuticals, where he successfully led the market development team for the ophthalmic business unit, a key driver of the rapid growth of the Xiidra product after a successful market launch. He also has extensive functional experience in commercial planning, operations, ethics, compliance, and sales leadership.

Avellino CEO and Board Member Jim Mazzo said, I could not be more excited or feel more fortunate to welcome Joe to our executive team. His analytical and strategic thinking, combined with experience in leading cross-functional teams and the extensive relationships he has built with ophthalmologists and optometrists, will be very critical as our company executes on our technical, clinical, and relational innovations.

About Avellino

Avellino Lab USA, Inc. is a global leader in gene therapy and molecular diagnostics and is at the forefront of precision medicine for eye care. The company is a member of the California State COVID-19 Testing Taskforce, which is focused on the expansion of CoV2 testing and the reduction of testing turn-around times (TAT). Beyond the AvellinoCoV2 test and AvellinoCoV2 Respiratory tests, Avellino recently will relaunch AvaGen in 2021, the worlds first DNA test to confirm the presence of genetic indicators that are positively associated with corneal dystrophies and keratoconus genetic risk-factors. The company is also developing a broader portfolio of infectious disease diagnostic tests. In addition, the company is also pioneering CRISPR gene editing to manage and potentially cure inherited diseases. Avellino is headquartered in Silicon Valley, California, with operations in Korea, Japan, China, and the UK.

To learn more about Avellino, please visit

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Avellino Exceeds 1 Million COVID-19 Tests in 2020 and Welcomes New Executive Team Hires In 2021 - Business Wire


Ubiquigent and the University of York Awarded a Grant to Explore the Potential of Deubiquitylase (DUB) Enzyme Inhibitors to Address Neglected Tropical…

Tuesday, January 19th, 2021

Dundee, UK, 14th January 2021 Ubiquigent Limited (Ubiquigent) and the Mottram Laboratory at the University of York today announced a collaboration to investigate the inhibition of deubiquitylase (DUB) enzymes expressed by the protozoan Leishmania mexicana for the treatment of leishmaniasis. The collaboration will be supported by aGlobal Challenges Research Fundgrant, awarded byUK Research and Innovation, as part of A Global Network for Neglected Tropical Diseases; a research consortium involving 13 universities across South America, Asia and the UK.

Leishmaniasis is a neglected tropical disease caused by parasites of the genus Leishmania. It predominantly affects poor communities in Africa, Asia and Latin America, with around 1.0 million new cases arising annually, and can result in serious illness or death. Current treatments are problematic due to high toxicity and emerging drug resistance, meaning there is an unmet need to develop new therapies.

The potential druggability of the ubiquitin system in Leishmania has previously been demonstrated through parasite-specific proteasomal inhibition being shown to reduce parasite burden in animal models of both visceral and cutaneous leishmaniasis. The initial objective of this collaboration will be to screen one of Ubiquigents proprietary compound libraries against selected L. mexicana DUBs to identify novel inhibitors that will then be used to seed a full drug discovery programme.

Ubiquigenthas established itself as a respected partner in the DUB field with a strong track record in the development of DUB inhibitors both through supporting the drug discovery efforts of its partners and by the strengthening of its own portfolio of novel DUB inhibitors. TheMottram Laboratoryunder the direction of Professor Jeremy Mottram, works on the molecular genetics, cell biology and biochemistry of parasitic protozoa that cause neglected tropical diseases such as leishmaniasis. This collaboration will combine the strengths of both teams to support the rapid exploitation of this opportunity for novel drug discovery.

Professor Jeremy Mottram, Professor of Pathogen Biology at the University of York and Director of the York Biomedical Research Institute (YBRI) commented: "Ubiquigents expertise in the design and development of novel DUB inhibitors and their understanding of the ubiquitin system will add tremendous value to our drug discovery efforts."

Ubiquigents Managing Director, Mr. Jason Mundin commented: "This collaboration with Professor Mottram and his team is an exciting opportunity for us to explore new applications for our DUB inhibitors with the potential of addressing an area of unmet medical need."

Ubiquigent LtdJason MundinManaging Director, Ubiquigent Ltd.E-mail:jason.mundin@ubiquigent.comPhone: +44 (0) 7976 000683

University of YorkJulie GatenbyPress +44 (0)1904 322029

About UbiquigentUbiquigent Limited enables and supports protein degradation focused drug discovery via modulation and exploitation of the ubiquitin system. Our chemistry and biology platforms allow us to design and develop novel compounds as part of strategic partnerships. In parallel we also provide access to our platforms and capabilities for the evaluation of our partners compounds.

For more information please

About the University of YorkThe University of York is a high-performance, research-intensive Russell Group university and one of the worlds premier institutions for inspirational and life-changing research. The Universitys focus on teaching and research excellence has resulted in consistently high rankings in the UK and a first-class reputation across the globe.

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Ubiquigent and the University of York Awarded a Grant to Explore the Potential of Deubiquitylase (DUB) Enzyme Inhibitors to Address Neglected Tropical...


Surprising New Study Finds That People Who Wear Masks Are More Likely to Become Infected With COVID-19 Than Those Who Don’t – SciTechDaily

Tuesday, January 19th, 2021

A unique new study suggests that the behavior public officials are now mandating or recommending unequivocally to slow the spread of surging COVID-19 wearing a face covering should come with a caveat. If not accompanied by proper public education, the practice could lead to more infections.

The finding is part of a unique study, just published in JMIR Public Health and Surveillance, that was conducted by a team of health economists and public health faculty at the University of Vermonts Larner College of Medicine in partnership with public health officials for the state of Vermont.

The study combines survey data gathered from adults living in northwestern Vermont with test results that showed whether a subset of them had contracted COVID-19, a dual research approach that few COVID studies have employed. By correlating the two data sets, researchers were able to determine what behaviors and circumstances increased respondents risk of becoming sick.

The key risk factor driving transmission of the disease, the study found, was the number of daily contacts participants had with other adults and seniors.

That had relevance for two other findings.

Those who wore masks had more of these daily contacts compared with those who didnt, and a higher proportion contracted the virus as a result.

A unique new study suggests that the behavior public officials are now mandating or recommending unequivocally to slow the spread of surging COVID-19 wearing a face covering should come with a caveat. If not accompanied by proper public education, the practice could lead to more infections. Credit: Joshua Brown

Basic human psychology could be at work, said Eline van den Broek-Altenburg, an assistant professor and vice chair for Population Health Science in the Department of Radiology at the Larner College of Medicine and the studys principal investigator.

When you wear a mask, you may have a deceptive sense of being protected and have more interactions with other people, she said.

The public health implications are clear. Messaging that people need to wear a mask is essential, but insufficient, she said. It should go hand in hand with education that masks dont give you a free pass to see as many people as you want. You still need to strictly limit your contacts.

Public education messaging should make clear how to wear a mask safely to limit infection, van den Broek-Altenburg added.

The study also found that participants living environment determined how many contacts they had and affected their probability of becoming infected. A higher proportion of those living in apartments were infected with the virus compared with those who lived in single-family homes.

If you live in an apartment, youre going to see more people on a daily basis than if you live in a single-family home, so you need to be as vigilant about social distancing, van den Broek-Altenburg said.

The study controlled for profession to prevent essential workers, who by definition have more contacts and are usually required to wear masks, from skewing the results.

Its generally known that essential workers are at higher risk, and our study bore that out, van den Broek-Altenburg said. We wanted to see what else predicted that people were going to get sick, she said.

The study provides the first estimate of unreported cases in Vermonts Chittenden County, where most study participants live. The survey found that 2.2 percent of the survey group had contracted the virus, suggesting that an estimated 3,621 Chittenden County residents were likely to have become ill, compared with just 662 reported cases, just 18%.

That figure translates to a hospitalization rate of 1.2% and adjusted infection fatality rate of 0.55%.

This finding is important for policy-makers, van den Broek-Altenburg said, in and out of Vermont.

If you know how many people are sick or have been sick, youre much better equipped to make precise predictions of will happen in the future and fashion the appropriate policies, she said.

It also shows the importance of serologic and PCR testing of the general population, she said.

If you only test symptomatic patients, youll never be able to find out how many people have already had the virus. With our random sample study we were able to show that Vermont has so far only tested less than one-fifth of the people who have likely had the virus. To capture the larger population, random samples of the population are needed so we can also capture asymptomatic patients, which appears to be the majority of COVID-19 cases.

The study, among other things, is a proof of concept, van den Broek-Altenburg said.

I hope it leads to other, larger studies that combine survey data with widespread testing. This approach is essential to both understanding the dynamics of this pandemic and planning our response to futures ones.

Ten of the 454 survey respondents who took the serologic test had antibodies for Covid-19, and one tested positive for the virus. Given the small number, researchers simplified their models and were able to reach a high confidence level in the two key findings.

We tested our models and found that the results were robust through several different model specifications, van den Broek-Altenburg said.

To create the study group, the researchers sent a survey to 12,000 randomly selected people between the ages 18 and 70 who had at least one primary care visit at the University of Vermont Medical Center, which services primarily northwestern Vermont, in the past three years.

Reference: Jobs, Housing, and Mask Wearing: Cross-Sectional Study of Risk Factors for COVID-19 by Eline M van den Broek-Altenburg, MA, MSc, PhD; Adam J Atherly; Sean A Diehl, PhD; Kelsey M Gleason, DrSc; Victoria C Hart, PhD; Charles D MacLean, MD; Daniel A Barkhuff, MD; Mark A Levine, MD and Jan K Carney, MD, 11 January 2021, JMIR Public Health and Surveillance.DOI: 10.2196/24320

Coauthors on the study include Eline van den Broek-Altenburg, University of Vermont Larner College of Medicine, Department of Radiology; Adam Atherly, University of Vermont Larner College of Medicine, Center for Health Services Research; Sean Diehl, University of Vermont Larner College of Medicine, Microbiology and Molecular Genetics; Kelsey Gleason University of Vermont Larner College of Medicine; Victoria Hart, University of Vermont Larner College of Medicine; Charles MacLean, University of Vermont Larner College of Medicine; Daniel Barkhuff, University of Vermont Larner College of Medicine, Emergency Department; Mark Levine, University of Vermont Larner College of Medicine, Department of Medicine; Jan Carney, University of Vermont Larner College of Medicine, Department of Medicine.

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Surprising New Study Finds That People Who Wear Masks Are More Likely to Become Infected With COVID-19 Than Those Who Don't - SciTechDaily


What do ‘non-identical identical twins’ have to do with COVID-19? Mutations! – Genetic Literacy Project

Tuesday, January 19th, 2021

Identical twins Stella and Desiree Vignes were born in 1938 in a Louisiana town so small that it wasnt on any maps. Light-skinned Blacks, the girls left town together at the age of 16 to head to New Orleans to work and escape a bleak future. Stella was mistaken for White at a job interview and continued the deception to get the position, eventually marrying her boss and leaving her sister behind. Stella experienced adulthood as White, Desiree as Black.

The Vignes sisters were born in the imagination of Brit Bennett, an extraordinary young writer. Her bestseller The Vanishing Half, traces the experiences of the twins in a world where what happens to them depends upon how others perceive them as Black or White. Of course, they go on to live starkly different lives, Stella in wealthy Brentwood, California, and Desiree back in her hometown waitressing in a diner. The drama intensifies when their grown daughters meet, one a pale blonde, the other a dark girl black as ebony.

Identical twins and higher multiples are, indeed, fascinating. The 2018 film Three Identical Strangerstells the tale of triplet brothers who met by chance at age 19 in 1980. It echoes the fictional filmThe Parent Trap, from 1961 with Hayley Mills and reborn in 1998 with Lindsay Lohan, each in dual roles.

Twins have for decades provided a handy tool in genetics research. Its straightforward. Characteristics more often shared between identical twins than between fraternal twins are presumed to have a greater inherited component. The flip side is that differences between identical twins are assumed to have arisen from environmental factors.

Twin studies are often used to scrutinize the underpinnings of behavioral traits, including conditions such as anxiety and depression. But the approach is also applied to less-well-defined characteristics, such as the ability to make wise investment decisions, altruism, trust, and evencell phone call and texting frequencies.

An entire literature is devoted to what twin studies reveal about the inheritance of political persuasion. The investigations are rigorous I cant follow the math but explaining how, exactly, a gene-encoded protein causes a trait like loyalty seems elusive.

The Heritability of Duty and Voter Turnout,for example, considersbelief that voting is a dutyas a trait that a gene or genes influence. (Heritabilityis a measure of the proportion of a traits variance that is inherited,not the degree that the trait itself is inherited.) Im more comfortable with traits that arise from abnormal or missing proteins like clotting factors and enzymes, rather than from harder-to-define feelings and beliefs.

Fraternal twins result from two sperm fertilizing two eggs. The twins share a uterus, but are no more closely related genetically than are any two full siblings. Fraternal twins are termed dizygotic, or DZ two zygotes, aka fertilized ova.

For identical, or monozygotic (MZ), twins, a single sperm fertilizes a single egg, which then splits. But that can happen at different points very early in development, leading to different types of identical twins.

The split may occur as soon as the fertilized ovum divides, or over the first three days and resulting, eventually, in development of separate placentas. But if an initial collection of cells (the inner cell mass) chugs along until day 7 before separating into two clumps, then the resulting twins may share a placenta and possibly their amniotic sac too. Examining these structures reveals when the twinning took place.

The timing of twinning is important because as cells divide, DNA replicates (copies itself), and thats when mutations can occur, like cutting and pasting an error in a document and then making many copies. A mutation that happens beforethe inner cell mass has sorted itself into two clumps will persist in both twins. But a mutation happeningafter the split results in discordance that is, a mutation in one twin but not the other, even though they are called identical.

A team from deCODE geneticsin Iceland has cleverly identified a few mutations that distinguish supposedly genetically identical twins. They deduced events in development by comparing genome sequences of living individuals,notby harming embryos. The findings are published in a recentNature Genetics.

(deCODE is the company founded in 1996 that established the first national biobank. It caused quite a fuss then, when genome projects were launching, about government control of genetic information. But deCODE went on to become and remain a leader in identifying genetic risk factors. Today deCODE is a subsidiary of Amgen.)

The researchers used the formation of identical twins as a unique window into early embryonic development, they write. Explained first author Hkon Jnsson, Mutations can be formed when cells divide and the daughter cells may carry a mutation that marks the descendants of the mutated cell within an individual. Mutations that are present in only one of the twins allow us therefore to backtrack to the cell divisions that lead to the development of the twins.

To find the mutations, the team compared full genome sequences from fat cells, white blood cells, and cheek lining cells among 387 pairs of identical twins and their parents, offspring, and spouses to identify twins that arent exact clones. Comparison to spouses enabled elimination of mutations inherited from that parent, and comparison to a twins offspring made it possible to infer the gene variants that passed from the twins sperm or egg.

The degree to which the identical twin pairs differ varied quite a lot, with some twins by more than 100 mutations, yet others, none at all. In about 15% of the pairs, one twin had many mutations that the other didnt. The average is 5.2 mutations.

The mutations that distinguish identical twins occurred during the first days of development that explains why the mutations tend to be in large percentages of the sampled cells from an individual. These two groups of monozygotic twins give insight into development of the embryo only a few divisions after conception, when the embryo consists of several cells, said Kari Stefansson, CEO and founder of deCODE genetics.

The finding may be important in understanding the origin of conditions such as autism and developmental disorders that are assumed to be due to an environmental factor if only one identical twin is affected. The conditions may instead be due to genetic differences between the twins, perhaps suggesting novel treatment approaches.

The new view of identical twins illustrates the fundamental changeability of the informational molecules that are genetic material, DNA and RNA.

DNA changes, mutates, because it is an informational molecule. Triplets of the building blocks A, C, T, and G are transcribed into a molecule of RNA, which is then translated into sequences of 20 types of amino acids, the building blocks of proteins. Traits come from the proteins. Thats molecular biology in a nutshell.

SARS-CoV-2, the virus that causes COVID-19, has RNA. And the sequence of that RNAs building blocks changes, as does the genetic material within our own cells. That is, mutation is part of nature, lying at the intersection of chemistry and biology.

If a mutation leads to a new characteristic, or modifies an existing one, in a way that benefits the organism or virus, the change will persist. This is natural selection, aka survival of the fittest. The word fittest in the context of evolution means reproductive success, not physical fitness. And thats why certain new variants of SARS-CoV-2 are potentially worrisome.

The new variantsare actually asetof genetic changes. Because they enable SARS-CoV-2 to spread more readily, which in turn increases the reproduction number (R naught) of how many people an infected person in turn infects, the mutants will take over the population of viruses I think, no matter what we do.

Because new variants are present before were aware of them, and because some countries have prioritized sequencing viral genomes while others, like the U.S., have not, the proverbial cat is out of the bag. Efforts to block the spread of new viral variants by restricting human travel are almost without doubt too little too late.

Resistance may indeed be futile. For mutations will continue to happen. Thats what nucleic acids RNA and DNA do.

Adam Lauring, MD, PhD, from the University of Michigan Division of Infectious Diseases and an expert in the evolutionary biology of RNA viruses, put the new mutations into practical perspective in a JAMA audioclinical review on January 2 and published a relatedViewpointinJAMA, Genetic Variants of SARS-CoV-2What Do They Mean? with Emma B. Hodcroft, PhD. Said he:

Lots of mutations have happened around the world that havent affected transmissibility. We dont have evidence that they are more virulent and cause more severe disease or death. Mutation happens. Some are important and help the virus do what viruses do spread. The trick is figuring out which of these mutations are important and which ones arent. What is allowing it to spread and how do we get on top of that? Im optimistic mutations wont affect vaccinations, but there will be a lot of work over the next weeks and months and in the future, because well have more mutations to contend with.

Ricki Lewis has a PhD in genetics and is a science writer and author of several human genetics books.She is an adjunct professor for the Alden March Bioethics Institute at Albany Medical College.Follow her at herwebsiteor Twitter@rickilewis

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What do 'non-identical identical twins' have to do with COVID-19? Mutations! - Genetic Literacy Project


NM Gov: Domestic Terrorism Will Not Be Tolerated Here. – Santa Fe Reporter

Tuesday, January 19th, 2021

Read More by Julia Goldberg

Julia Goldberg is a senior correspondent at SFR, covering politics, technology and other topics. She previously served as SFR editor from December 2000 through April 2011, taught journalism and creative writing full-time at Santa Fe University of Art and Design and is the author of Inside Story: Everyone's Guide to Reporting and Writing.

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NM Gov: Domestic Terrorism Will Not Be Tolerated Here. - Santa Fe Reporter


Aker BioMarine collaboration looks to boost omega-3 oil delivery to brain and eyes –

Thursday, January 14th, 2021

The collaboration looks to support Akers new delivery platform, LYSOVETA that is based on lysophosphatidylcholine (LPC)-bound EPA (eicosapentaenoic acid) and DHA (docosahexaenoic acid) derived from krill.

The complex enables EPA and DHA to pass through the blood-brain barrier and enter the brain as well as enriching the retina to improve ocular health.

The LPC transporter allows EPA and DHA to enter the brain and the retina, explains Papasani Subbaiah, professor of medicine, biochemistry and molecular genetics at the UIC College of Medicine.

We have demonstrated that LPC- bound EPA and DHA from krill oil have a huge beneficial effect on the uptake levels in these organs.

As part of the agreement, the Oslo-based firm will receive an exclusive license to the current intellectual property resulting from Professor Subbaiahs work on LPC-EPA/DHA.

Aker will also supply the UIC team with LPC-bound EPA and DHA derived from Antarctic krill to further their research.

Prof Subbaiah was the lead author of a recent study looking into LPC-EPAs ability to tackle disorders such as depression by increasing levels of EPA levels in the brain.

He commented that boosting EPA levels in the brain through consuming EPA had proven difficult because the amount of EPA that would need to be ingested to show increases in brain EPA levels was quite large - 40 to 50 millilitres (ml) daily.

Our partnership with the University of Illinois Chicago marks the first step in establishing a strong network of collaborators within the LPC-bound EPA and DHA field, says Matts Johansen, CEO, Aker BioMarine.

We will continue to explore the potential of LPC-bound EPA and DHA from krill, to gain a broader and in-depth understanding of how LYSOVETA can benefit brain and eye function.

There is no better way to kick this off than with a world-leading research team on this subject by our side,

Launched in November 2020, the firm looks to apply the LYSOVETA platform to healthy ageing as well as eye and brain health.

This development is especially applicable during the early years and late in life, where the most pronounced structural and cognitive changes occur.

Research suggests that targeted delivery of essential fatty acids may be of particular importance in periods of accelerated alterations in brain structure.

Aker states that further research on the role of LPC-EPA/DHA from a lifespan perspective could therefore provide benefits both to individuals and to society as a whole.

The firm revealed that it was to scale up production capacity of the molecule at its manufacturing plant in Houston with regulatory approval for the dietary supplement version of LYSOVETA expected by the end of 2022.

Aker added it was also seeking partners to pursue commercial opportunities in the pharmaceutical and infant formula segment.

The agreement with UIC also looks to be the first in a number of academic-industry partnerships as Aker revealed its intentions to reaching out to universities and research organisations with material and knowhow to stimulate further research.

"It is important to bring our findings into the real world, to test and prove the commercial potential of LPC-bound EPA and DHA in terms of its benefits on human health, adds Hyunjin Kim, Associate Technology Manager at UICs Office of Technology Management.

We are excited about this collaboration with Aker BioMarine, a partner whose products are firmly rooted in science.

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Aker BioMarine collaboration looks to boost omega-3 oil delivery to brain and eyes -


The new age (not that sort) of crystals – Financial Times

Thursday, January 14th, 2021

Whether or not you feel your chakras could do with some realignment, its unlikely the term crystal healing has passed you by. The hashtag crops up 5.3m times on Instagram, and Google searches for the term have risen 60 per cent over the past decade. The alternative-wellness trend is based on the theory that crystals such as rose quartz or black obsidian favourites of Gwyneth Paltrow and Victoria Beckham rebalance the bodys electromagnetic field.

While demand for diamonds could have dropped by as much as 25 per cent in 2020, the value of crystals such as quartz, amethyst, citrine and malachite is holding steady. Our first standalone mineral sale was in 2014 and we took 800,000, says James Hyslop, Christies head of natural history. Our sale last October did 1.4m. It is very much amarket that is on the up.

But its not the new wave of New Age spirituality thats driving the high end of the market, says Rob Lavinsky, a doctor of molecular genetics and founder of Dallas-based crystal dealership The Arkenstone. Its a new class of collectors. Theyre not scientists, they didnt start collecting as children as rockhounds buying $5 minerals. They are coming in from other collectable worlds coins, cars, antiques, art and have no problem paying 10,000, or $100,000 for quality. The finest minerals on his website typically range from $100,000 to $500,000. The absolute top things, including a few over the $2m mark, are not listed online.

The type of systematic collecting pioneered by18th-century European aristocrats for their Wunderkammern has sort of gone, agrees New York dealer Daniel Trinchillo, founder of Mardani Fine Minerals, adding that todays major mineral players include Salim Edd, whose collection opened Beiruts Mineral Museum (MIM) in 2013, and GuyLalibert, founder of Cirque du Soleil. Theyare looking for works of art amazingly beautiful, sculptural objects, says fellow New York dealer Stuart Wilensky.

We never know what will come out of the ground tomorrow, Wilensky adds. And this has a dynamic effect on collecting. Most popular are the colourful minerals tourmalines and calcites, even amethysts and quartzes. And fluorite in particular. It comes in nearly every colour, from hundreds of locations around the world, explains Wilenskys website, where a 4.5cm-high specimen of lavender-hued cubic fluorite from China is $3,975, and asought-after combination of pink fluorite and smoky quartz from Switzerland is $855,000.

Recently, the field has come under scrutiny for its supply chains, sustainability and wage thresholds. Our business is not regulated, says Wilensky. But the focus seems to be inspiring systemic change. London seller Shes Lost Control has a Sustainable Mining Initiative with a Brazilian mine. Lavinsky says he consciously drives a price spiral in source countries. And Ian Bruce of Crystal Classics, a leading UK dealer, now operates Europes only specimen mine, in the north of England. We employ 14 full-time miners, he says. The market is now so strong that its commercially viable and were seeing the same thing in the US, South America, Asia, Australia.

As well as new finds, the market incorporates antique specimens where provenance comes into play. Illustrious former owners run from prolific 19th-century collector Stephan von Habsburg-Lothringen whose specimen labels, printed by the Budapest mint, are highly prized to Yves Saint Laurent, whose rock crystals, pyrite clusters and amethyst geodes were auctioned by Christies in 2009.

The auction houses including Sothebys and Heritage Auctions in Dallas are relative newcomers to the realm. As such, We havent seen good specimens hit the auction world yet, posits Bruce. His Somerset showroom is a destination for CEOs and international celebrities, who might leave with an aquamarine from Pakistan ($100,000) or an African druzy chrysocolla ($90,000). One of Bruces most serious customers has 130 treasures, housed in a custom-made glass-fronted cabinet. I go for aesthetics. I love the sheer magic of how theyve formed in some cases a billion or more years ago and the sense of permanence. Pointing to his collection, he says, Thats one of the rarest forms of beryl, from Utah.

The London home of spatial designer Robert Storey shows a more relaxed side of the collector coin. I have a bunch of crystals around my house, he says of the pieces bought on his travels and grouped casually on tabletops. I dont know much about their metaphysical qualities, I just love the way they look. My favourite is azurite-malachite. Its green and blue I like to think of it as land and water.

To capitalise on the growing market for less-rare specimens, and those with a happenstance approach to collecting, Lavinsky runs, where bids start at $10: At $500 to $5,000, you can build a really fun collection. More fun still, for some collectors at least, is to turn sourcing crystals into an experience. In the US, you can do the mining yourself pay-to-dig mines are undergoing a resurgence, as modern-day gem hunters seek their fortunes. Or just a nice chunk of quartz and a bit of a fossick.

MIM Museum, Beirut Natural History Museum, London

The Mineralogical Record Bi-monthly magazine;

The Arkenstone Christies Crystal Classics Mardani Fine Minerals Shes Lost Control Tucson Gem & Mineral Show; next show, February 2022. Wilensky

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The new age (not that sort) of crystals - Financial Times


Researchers seek to help prevent and treat disease by studying the effects of exercise – University of Virginia The Cavalier Daily

Thursday, January 14th, 2021

University researchers are taking part in an unprecedented research project centered on the biological effects of exercise after receiving a grant from the National Institutes of Health and joining a national consortium of research institutions that includes Stanford University, the University of Florida and Duke University. They are applying Big Data and machine learning techniques, which are methods used to analyze large amounts of often complex data, to a robust molecular map in order to identify the prominent molecules involved in exercise. The long-term goal of modifying those molecules is to develop medical interventions which mimic the effects of exercise in the body.

In 2010, Zhen Yan, director of the Center for Skeletal Muscle Research at the Universitys Robert M. Berne Cardiovascular Research Center, and other prominent scientists were invited to a roundtable discussion hosted by the NIH to discuss the future of exercise research. The researchers addressed the mutual consensus that regular physical activity is crucial to fighting numerous chronic conditions, including cardiovascular diseases, diabetes, obesity and depression, among others. The scientists at the conference thus agreed on the importance of conducting further research to determine the deeper molecular causes facilitating exercises well-documented benefits.

Exercise seems to be a regular physical activity and seems to be one of the most effective interventions, but the million dollar question is why exercise is so good, Yan said.

In 2016, the NIHs constituent institutions allocated a total of $170 million to form the Molecular Transducers of Physical Activity Consortium, which consists of multiple educational institutions including the University. MoTrPAC aims to collectively track the molecular mechanisms elicited by exercise in order to better understand how it impacts the health of the bodys tissues and organs.

Identifying and understanding the particular mechanisms instigated by exercise may allow healthcare providers to apply the findings to prescribe more specific exercise recommendations for their patients. Knowing the exact mechanisms could also allow for treatments which imitate the beneficial bodily effects of exercise for those with limited mobility.

If we understand the mechanism, we will not only be able to ... manipulate or employ exercise intervention, but we can also use modern medical science to come up with strategies that mimic exercise for people who cannot for whatever the reason exercise regularly, Yan said.

The Universitys research team is building their studies off results from NIHs phase one trials, which involved constructing a molecular map of biological molecules which have been shown to improve and preserve the health of the bodys tissues and organs. Phase one used animal studies and multi-omics, which is a methodology they used to analyze bulks of molecular data.

The first step of Yan and the team is to take this molecular map from the NIH and filter through it to identify the exact molecular mechanism responsible for exercises health benefits. The team is utilizing machine learning algorithms and Big Data methods to search for the particular molecules that are produced or released into circulation upon performing physical activity.

Our task is to find a specific route in that map that is critical for this journey, Yan said.

Upon narrowing down the search to the anticipated candidate molecules, the next step would be to manipulate their expression in animal models by using gene editing to activate or inactivate the expression of the identified molecules in animals. The physiological response of the animals would be consequently observed to determine if the targeted molecule is indeed responsible for eliciting the physiological responses caused by exercise.

The research team is composed of scientists from multiple disciplines, including genetics, bioinformatics and neuroscience, in attempts to gain an increasingly holistic understanding of the mechanisms responsible for exercises benefits.

Dr. John Lukens, assistant professor and researcher at Universitys Department of Neuroscience and the Center for Brain Immunology and Glia, is focusing on how the presence of exercise strengthens connections in the brain and results in improved cognitive function. He plans to change the expression of the molecular pathways identified by bioinformatics methods and consequently put the animals through cognition tasks.

[Exercise] has also been shown to be really important to prevent things like cognitive decline and things like Alzheimer's disease and that's been appreciated for a long time, but nobody really knows how that works, Lukens said.

Adding a neurological angle to Yans project, Lukens plans to study the animals behavior and quantity of neurons in their brains to gain a deeper understanding of how performing exercise impacts mental health conditions such as anxiety and depression.

[We will conduct] post analysis, looking at the brains to see if they have any kind of loss of neurons, neurodegeneration, which is the underlying cause of most known brain disorders or mental diseases, Lukens said.

In addition, combining the effects of regularly performing exercise with stimulation of target molecular pathways will open up new experimental possibilities as factors like changes in hormone levels, oxygen intake and sleep are already induced by the act of exercise alone.

We just dont understand the molecular players involved, but if we can identify those, combining exercise and target pathways, you might have a synergistic effect that can really make a difference in somebodys life, Lukens said.

A challenge which the team expects to encounter is effectively using bioinformatics to sift through NIHs broad molecular dataset in order to identify intended beneficial pathways.

Yan believes that the current pandemic highlights the importance of maintaining a healthy lifestyle that incorporates exercise.

If anything, the COVID-19 pandemic is a wake-up call that we should really take advantage of a healthy lifestyle, including regular exercise to stay healthy and be prepared to deal with the current pandemic and future challenges, Yan said.

Researchers seek to help prevent and treat disease by studying the effects of exercise - University of Virginia The Cavalier Daily


CRISPR and the Splice to Survive – The New Yorker

Thursday, January 14th, 2021

Odin, in Norse mythology, is an extremely powerful god whos also a trickster. He has only one eye, having sacrificed the other for wisdom. Among his many talents, he can wake the dead, calm storms, cure the sick, and blind his enemies. Not infrequently, he transforms himself into an animal; as a snake, he acquires the gift of poetry, which he transfers to people, inadvertently.

The Odin, in Oakland, California, is a company that sells genetic-engineering kits. The companys founder, Josiah Zayner, sports a side-swept undercut, multiple piercings, and a tattoo that urges: Create Something Beautiful. He holds a Ph.D. in biophysics and is a well-known provocateur. Among his many stunts, he has coaxed his skin to produce a fluorescent protein, ingested a friends poop in a D.I.Y. fecal-matter transplant, and attempted to deactivate one of his genes so that he could grow bigger muscles. (This last effort, he acknowledges, failed.) Zayner calls himself a genetic designer and has said that his goal is to give people access to the resources they need to modify life in their spare time.

The Odins offerings range from a Biohack the Planet shot glass, which costs three bucks, to a genetic engineering home lab kit, which runs almost two thousand dollars and includes a centrifuge, a polymerase-chain-reaction machine, and an electrophoresis gel box. I opted for something in between: the bacterial CRISPR and fluorescent yeast combo kit, which set me back two hundred and nine dollars. It came in a cardboard box decorated with the companys logo, a twisting tree circled by a double helix. The tree, I believe, is supposed to represent Yggdrasil, whose trunk, in Norse mythology, rises through the center of the cosmos.

Inside the box, I found an assortment of lab toolspipette tips, petri dishes, disposable glovesas well as several vials containing E. coli and all Id need to rearrange its genome. The E. coli went into the fridge, next to the butter. The other vials went into a bin in the freezer, with the ice cream.

Genetic engineering is, by now, middle-aged. The first genetically engineered bacterium was produced in 1973. This was soon followed by a genetically engineered mouse, in 1974, and a genetically engineered tobacco plant, in 1983. The first genetically engineered food approved for human consumption, the Flavr Savr tomato, was introduced in 1994; it proved such a disappointment that it went out of production a few years later. Genetically engineered varieties of corn and soy were developed around the same time; these, by contrast, have become more or less ubiquitous.

In the past decade or so, genetic engineering has undergone its own transformation, thanks to CRISPRshorthand for a suite of techniques, mostly borrowed from bacteria, that make it vastly easier for biohackers and researchers to manipulate DNA. (The acronym stands for clustered regularly interspaced short palindromic repeats.) CRISPR allows its users to snip a stretch of DNA and then either disable the affected sequence or replace it with a new one.

The possibilities that follow are pretty much endless. Jennifer Doudna, a professor at the University of California, Berkeley, and one of the developers of CRISPR, has put it like this: we now have a way to rewrite the very molecules of life any way we wish. With CRISPR, biologists have already createdamong many, many other living thingsants that cant smell, beagles that put on superhero-like brawn, pigs that resist swine fever, macaques that suffer from sleep disorders, coffee beans that contain no caffeine, salmon that dont lay eggs, mice that dont get fat, and bacteria whose genes contain, in code, Eadweard Muybridges famous series of photographs showing a horse in motion. Two years ago, a Chinese scientist, He Jiankui, announced that he had produced the worlds first CRISPR-edited humans, twin baby girls. According to He, the girls genes had been tweaked to confer resistance to H.I.V., though whether this is actually the case remains unclear. Following his announcement, He was fired from his academic post, in Shenzhen, and sentenced to three years in prison.

I have almost no experience in genetics and have not done hands-on lab work since high school. Still, by following the instructions that came in the box from the Odin, in the course of a weekend I was able to create a novel organism. First I grew a colony of E. coli in one of the petri dishes. Then I doused it with the various proteins and bits of designer DNA Id stored in the freezer. The process swapped out one letter of the bacterias genome, replacing an A (adenine) with a C (cytosine). Thanks to this emendation, my new and improved E. coli could, in effect, thumb its nose at streptomycin, a powerful antibiotic. Although it felt a little creepy engineering a drug-resistant strain of E. coli in my kitchen, there was also a definite sense of achievement, so much so that I decided to move on to the second project in the kit: inserting a jellyfish gene into yeast in order to make it glow.

The Australian Centre for Disease Preparedness, in the city of Geelong, is one of the most advanced high-containment laboratories in the world. It sits behind two sets of gates, the second of which is intended to foil truck bombers, and its poured-concrete walls are thick enough, I was told, to withstand a plane crash. There are five hundred and twenty air-lock doors at the facility and four levels of security. Its where youd want to be in the zombie apocalypse, a staff member told me. Until recently, the center was known as the Australian Animal Health Laboratory, and at the highest biosecurity levelBSL-4there are vials of some of the nastiest animal-borne pathogens on the planet, including Ebola. (The laboratory gets a shout-out in the movie Contagion.) Staff members who work in BSL-4 units cant wear their own clothes into the lab and have to shower for at least three minutes before heading home. The animals at the facility, for their part, cant leave at all. Their only way out is through the incinerator is how one employee put it to me.

About a year ago, not long before the pandemic began, I paid a visit to the center, which is an hour southwest of Melbourne. The draw was an experiment on a species of giant toad known familiarly as the cane toad. The toad was introduced to Australia as an agent of pest control, but it promptly got out of control itself, producing an ecological disaster. Researchers at the A.C.D.P. were hoping to put the toad back in the bottle, as it were, using CRISPR.

A molecular biologist named Mark Tizard, who was in charge of the project, had agreed to show me around. Tizard is a slight man with a fringe of white hair and twinkling blue eyes. Like many of the scientists I met in Australia, hes from somewhere elsein his case, England. Before getting into amphibians, Tizard worked mostly on poultry. Several years ago, he and some colleagues at the center inserted a jellyfish gene into a hen. This gene, similar to the one I was planning to plug into my yeast, encodes a fluorescent protein. A chicken in possession of it will, as a consequence, emit an eerie glow under UV light. Next, Tizard figured out a way to insert the fluorescence gene so that it would be passed down to male offspring only. The result is a hen whose chicks can be sexed while theyre still in their shells.

Tizard knows that many people are freaked out by genetically modified organisms. They find the idea of eating them repugnant, and of releasing them into the world anathema. Though hes no provocateur, he, like Zayner, believes that such people are looking at things all wrong. We have chickens that glow green, Tizard told me. And so we have school groups that come, and when they see the green chicken, you know, some of the kids go, Oh, thats really cool. Hey, if I eat that chicken, will I turn green? And Im, like, You eat chicken already, right? Have you grown feathers and a beak?

Anyway, according to Tizard, its too late to be worried about a few genes here and there. If you look at a native Australian environment, you see eucalyptus trees, koalas, kookaburras, whatever, he said. If I look at it, as a scientist, what Im seeing is multiple copies of the eucalyptus genome, multiple copies of the koala genome, and so on. And these genomes are interacting with each other. Then, all of a sudden, ploomph, you put an additional genome in therethe cane-toad genome. It was never there before, and its interaction with all these other genomes is catastrophic. It takes other genomes out completely. He went on, What people are not seeing is that this is already a genetically modified environment. Invasive species alter the environment by adding entire creatures that dont belong. Genetic engineers, by contrast, just alter a few stretches of DNA here and there.

What were doing is potentially adding maybe ten more genes onto the twenty thousand toad genes that shouldnt be there in the first place, and those ten will sabotage the rest and take them out of the system and so restore balance, Tizard said. The classic thing people say with molecular biology is: Are you playing God? Well, no. We are using our understanding of biological processes to see if we can benefit a system that is in trauma.

Formally known as Rhinella marina, cane toads are a splotchy brown, with thick limbs and bumpy skin. Descriptions inevitably emphasize their size. Rhinella marina is an enormous, warty bufonid (true toad), the U.S.Fish and Wildlife Service notes. The U.S.Geological Survey observes that large individuals sitting on roadways are easily mistaken for boulders. The biggest cane toad ever recorded was fifteen inches long and weighed six poundsas much as a chubby chihuahua. A toad named Big Bette, who lived at the Queensland Museum, in Brisbane, in the nineteen-eighties, was nine and a half inches long and almost as wideabout the size of a dinner plate. The toads will eat almost anything they can fit in their oversized mouths, including mice, dog food, and other cane toads.

Cane toads are native to South America, Central America, and the southernmost tip of Texas. In the mid-eighteen-hundreds, they were brought to the Caribbean. The idea was to enlist the toads in the battle against beetle grubs, which were plaguing the regions cash crop, sugar cane. (Sugar cane, too, is an import; it is native to New Guinea.) From the Caribbean, the toads were shipped to Hawaii. In 1935, a hundred and two toads were loaded onto a steamer in Honolulu, headed for Australia. A hundred and one survived the journey and ended up at a research station in sugar-cane country, in northeast Queensland. Within a year, theyd produced more than 1.5 million eggs. (A female cane toad can produce up to thirty thousand eggs at a go.) The resulting toadlets were intentionally released into the regions rivers and ponds.

Its doubtful that the toads ever did the sugar cane much good. Cane beetles perch too high off the ground for a boulder-size amphibian to reach. This didnt faze the toads. They found plenty else to eat, and continued to produce toadlets by the truckload. From a sliver of the Queensland coast, they pushed north, into the Cape York Peninsula, and south, into New South Wales. Sometime in the nineteen-eighties, they crossed into the Northern Territory. In 2005, they reached a spot known as Middle Point, in the western part of the Territory, not far from the city of Darwin.

Along the way, something curious happened. In the early phase of the invasion, the toads were advancing at the rate of about six miles a year. A few decades later, they were moving at the pace of twelve miles a year. By the time they hit Middle Point, theyd sped up to thirty miles a year. When researchers measured the individuals at the invasion front, they found out why. The toads had significantly longer legs than the toads back in Queensland, and this trait was heritable. The Northern Territory News played the story on its front page, under the headline SUPER TOAD. Accompanying the article was a doctored photo of a cane toad wearing a cape. It has invaded the Territory and now the hated cane toad is evolving, the newspaper gasped. Contra Darwin, it seemed, evolution could be observed in real time.

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CRISPR and the Splice to Survive - The New Yorker


Yourgene Health : 11 January 2021 – Clarigene SARS-CoV-2 Product Update and Partnerships with CityDoc and ReCoVa-19 + –

Thursday, January 14th, 2021

Manchester, UK - 11 January 2021:Yourgene (AIM: YGEN), the international molecular diagnostics group, announces that following the Company's statement on 24 December 2020, regarding the new virus strain (VUI-202012/01 SARS-CoV-2 variant), Yourgene's wet lab testing is now complete and has confirmed that the performance of the ClarigeneSARS-CoV-2 assay is not impacted by any currently known mutations in the VUI-202012/01 strain.

The wet lab testing followed a detailedin silico(Computer) analysis of the mutations in the new SARS-CoV-2 variant, to assess the reliability of Yourgene's existing Clarigeneproduct. Unlike many other assays on the market, the ClarigeneSARS-CoV-2 assay does not rely on amplification of the S gene, where one of the key VUI-202012/01 variants (N501Y) is located, in this new virulent strain. The Company has also implemented an ongoing rigorous internal surveillance programme to ensure continued monitoring for the development of new viral strains. This includes database monitoring for SARS-CoV-2 variants with mutations in the N and the E gene which fall around the assay primers and probes, as well as impact assessment on these mutations on assay performance, evaluated byin silicoanalysis and wet lab confirmation.

Following the confirmation of the performance of the ClarigeneSARS-CoV-2 assay against the new virus strain, Yourgene have partnered with CityDoc Medical Limited ("CityDoc"), a 15-year old healthcare business and one of the UK's largest private vaccination and medical testing companies with over 150+ clinics across the UK, to oversee the customer management and offer responsive clinical support for Yourgene's Clarigenetest, for the UK Government's Test To Release for international travellers scheme. CityDoc will manage the e-commerce function and logistics by allowing customers to order a sample collection kit and returning the test sample to the Yourgene laboratory. In addition, another key customer, ReCoVa-19 Limited works alongside Yourgene and CityDoc to provide access to their customer-facing COVID testing and wellness monitoring app, which enables sample tracking and customers to access their test results.

Lyn Rees, CEO of Yourgene commented:"We are pleased to confirm that our Clarigenetest is not compromised by the recently analysed mutations in the SARS-CoV-2 virus and believe that our ongoing internal surveillance for new virus strains shows our commitment to offering our customers the quality products they expect and deserve. We have a great and reliable product in the Clarigene test and look forward to working with CityDoc and ReCoVa-19 Limited, in order to support the economy by aiding the travel industry's return to normality."

This announcement contains inside information for the purposes of Article 7 of EU Regulation 596/2014. The Directors of the Company take responsibility for this announcement.

Lyn Rees, Chief Executive OfficerBarry Hextall, Chief Financial OfficerJoanne Cross, Director of Marketing

Cairn Financial Advisers LLP (NOMAD)Liam Murray / James Caithie / Ludovico Lazzaretti

Tel: +44 (0)20 7213 0880

N+1 Singer (Joint Corporate Broker)Aubrey Powell / Tom Salvesen / George Tzimas

Tel: +44 (0)20 7496 3000

Nicholas Moore / Matthew Blawat / Ben Maddison

Tel: +44 (0)20 7710 7600

Paul McManus / Lianne Cawthorne

Mob: 07980 541 893 Mob: 07584 391 303

About Yourgene Health plc

Yourgene is an international molecular diagnostics group which develops and commercialises genetic products and services. The group works in partnership with global leaders in DNA technology to advance diagnostic science.

Yourgene develops and commercialises simple and accurate molecular diagnostic solutions, for reproductive health and molecular genetics. The Group's products include non-invasive prenatal tests (NIPT) for Down's Syndrome and other genetic disorders, Cystic Fibrosis screening tests, invasive rapid aneuploidy tests, male infertility tests and genetic disease tests. Yourgene's commercial footprint is already established in the UK, Europe, the Middle East, Africa and Asia.

Our product development, research service and commercial capabilities extend across the lifecycle of genetic test development including regulatory submissions. Through our technical expertise and partnerships, Yourgene is also extending its genetic testing offering into oncology.

Yourgene is headquartered in Manchester, UK with offices in Taipei and Singapore, and is listed on the London Stock Exchange's AIM market under the ticker "YGEN". For more information, visitwww.yourgene-health.comand follow us on twitter@Yourgene_Health.

Forward-Looking Statements

Certain statements made in this announcement are forward-looking statements. These forward-looking statements are not historical facts but rather are based on the Company's current expectations, estimates, and projections about its industry; its beliefs; and assumptions. Words such as 'anticipates,' 'expects,' 'intends,' 'plans,' 'believes,' 'seeks,' 'estimates,' and similar expressions are intended to identify forward-looking statements. These statements are not guarantees of future performance and are subject to known and unknown risks, uncertainties, and other factors, some of which are beyond the Company's control, are difficult to predict, and could cause actual results to differ materially from those expressed or forecasted in the forward-looking statements. The Company cautions security holders and prospective security holders not to place undue reliance on these forward-looking statements, which reflect the view of the Company only as of the date of this announcement. The forward-looking statements made in this announcement relate only to events as of the date on which the statements are made. The Company will not undertake any obligation to release publicly any revisions or updates to these forward-looking statements to reflect events, circumstances, or unanticipated events occurring after the date of this announcement except as required by law or by any appropriate regulatory authority.


Yourgene Health plc published this content on 11 January 2021 and is solely responsible for the information contained therein. Distributed by Public, unedited and unaltered, on 11 January 2021 08:17:03 UTC

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Yourgene Health : 11 January 2021 - Clarigene SARS-CoV-2 Product Update and Partnerships with CityDoc and ReCoVa-19 + -


What is Genetic Cancer Testing and How Do Patients Get Tested? –

Tuesday, January 5th, 2021

At the molecular level all cancers are genetic, they start as your normal breast cell or ovaries and overtime pick up small genetic changes. When talking about inherited testing or hereditary testing only a small portion of cancer can be passed down in a family. We roughly quote 5-10% can be due to hereditary reasons or something we might find in an inherited genetic test, explained Dr. Tong at the CURE Educated Patient Womens Cancer Summit.

Genetic testing is a critical part of understanding these cancers, as well as how to treat, and Ill be discussing today about how we think about how genetics fits in cancer development, how genetic testing plays a role and how genetic counseling can help induvial and families come to decisions around genetics, says Dr. Tong.

Some exceptions include, up to 20% of negative breast cancers that can be hereditary and up to 25% of ovarian cancers can be hereditary, which is why genetic testing is recommended for all ovarian cancers.

When talking about hereditary cancer Dr. Tong says clinicians and genetic counselors are thinking about if that person has a higher chance of developing cancer, because nobody is at a 0% of developing cancer. Genetic testing will look at to see if they can identify what is elevating the persons risk of developing cancer, and can you potentially explain why a person developed certain cancer.

Part of what we learn from genetic testing, is not only could it have been due to a hereditary cause, such as a mutation in a gene, but which gene mutation and how can we differentially take care of people depending on which gene mutation did cause that, says Dr. Tong.

Guidelines recommend that all women diagnosed with epithelial ovarian cancer and breast cancer should be offered genetic testing.

Beginning in 2015 technology has brought three different types of gene testing or as they call it, Multi-Gene Panel Testing. Then there is a decision about how much genetic testing to do. For genes that they know are associated with inherited risk, those are high and moderate risk genes, they have actionable guidelines for treatment, risk reduction or prevention.

As technology develops you think about if the low-risk genes should also be looked at, the most likely have no impact on your health, such as a recessively inherited cancer risk, the information from these genes may be relevant to your family members or future generations. Some panel offers looking at newly described genes, they have limited evidence that they may impact inherited cancer risk, and they dont have actionable guidelines yet but could in the future.

We think that pretest counseling with a genetic counselor can help an induvial better understand how genetics impacts or plays a role in their cancer diagnosis or in their family history. Genetic counselors will take a look at family history and go many generations to look at distant relatives to see if there is a pattern to the cancers of that family that can be inherited, or does it look more like sporadic risks, then that counselor can discuss what the testing options are, how much testing to have or if its even right for you or not, says Dr. Tong about genetic testing counseling.

Types of results include a negative, the most important to be working with a genetic counselor, meaning there was no change found in the gene, it is considered a normal result and cancer treatment, screening and prevention decisions can be based on personal and family history of cancer. The next is a variant or uncertain significance, also considered a normal result, a change was found but is most likely due to normal human variation. The last result is positive result, where they find a change or genetic mutation that is associated with cancer, cancer treatment, screening and prevention decisions will be based on the risks specific to the change found.

Some may fear that they may be discriminated against due to their genetic testing results. There are laws in place that will protect you and your family members from employment or health insurance discrimination such as the Genetic Information Non-Discrimination Act of 2008, or GINA. In addition, there is the Americans with Disabilities Act, ADA, and the Health Information Portability and Accountability Act, HIPPA. However, there are limitations, how these laws dont protect against other types of discrimination such as life insurance, disability or long-term care, which would be discussed in your genetic counseling session.

Genetic testing can help thinking about what the path forward is for you and your family when we do learn the results, Dr. Tong concludes. He says going to a genetic counselor can help medically keep you healthy and also emotionally, connecting you with different resources and support organizations.

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What is Genetic Cancer Testing and How Do Patients Get Tested? -


Research Roundup: Different Antibody Responses to COVID-19 and More – BioSpace

Tuesday, January 5th, 2021

Every week there are numerous scientific studies published. Heres a look at some of the more interesting ones.

Antibodies Respond Differently to Severe Versus Mild COVID-19

Researchers at Stanford Medicine found that COVID-19 antibodies preferentially target different parts of the SARS-CoV-2 virus in mild COVID-19 cases than they do in severe cases. In addition, they fade differently based on the severity of the case. People with severe COVID-19 have low proportions of antibodies that target the spike protein. In milder cases, the antibodies seem to do a better job of binding to the spike protein. The spike protein binds to the ACE2 receptor on human cells, which allows the virus to enter the cell. Once inside, the virus gets rid of its outer coat, takes over the cells protein-making machinery and churns out more viral particles that then infect other cells. Antibodies that bind to the spike protein block the ability to bind to ACE2. Antibodies that bind to other parts of the virus dont seem to prevent viral spread.

Antibody responses are not likely to be the sole determinant of someones outcome, said Scott Boyd, associate professor of pathology at Stanford. Among people with severe disease, some die and some recover. Some of these patients mount a vigorous immune response, and others have a more moderate response. So, there are a lot of other things going on. There are also other branches of the immune system involved. Its important to note that our results identify correlations but dont prove causation.

Understanding Brain Plasticity in Adults

When brains develop, they constantly grow new neuronal connectionssynapsesas they learn and remember. Important connects are nurtured and reinforced while seemingly unnecessary ones are pruned. Adult brains undergo similar treatment, but its not well understood why adult synapses are eliminated. A group of researchers at The Korean Advanced Institute of Science and Technology (KAIST) have found the underlying mechanism of plasticity, which could be related to neurological disorders in adult brains. The brains gray matter contains microglia and astrocytes. Microglia are a frontline immune defensethey eat pathogens and dead cells. Astrocytes are star-shaped cells that help structure the brain and maintain homeostasis with involvement in neuronal signaling. It was long thought that microglial eat synapses as part of their clean-up effort, a process called phagocytosis. But their research, using a new molecular sensor, found that it was actually the astrocytes that are constantly eliminating excessive and unnecessary adult excitatory synaptic connections.

New Class of Antibiotic Works Against Range of Bacteria

Investigators withThe Wistar Institute have identified a new class of antibiotics that have a broad range of antibacterial effects, including against microbes with antimicrobial resistance (AMR). They focused on a metabolic pathway essential for bacteria but absent in humans, called methyl-D-erythritol phosphate (MEP) or non-mevalonate pathway, which is responsible for biosynthesis of isoprenoids. Isoprenoids are required for cell survival in most pathogenic bacteria. The researchers targeted the IspH enzyme, essential in isoprenoid biosynthesis. They screened several million commercially available compounds using computer models to find ones that could bind with the enzyme and chose the most potent ones. Most IspH inhibitors cant penetrate the bacterial cell wall, so the researchers worked to identify and synthesize novel IspH inhibitors that could get inside the bacteria.

Rhesus Macaque Genome Reference Includes 85 Million Genetic Variants

Researchers at Baylor College of Medicine, the University of Missouri and the University of Washington created a new reference genome assembly, identifying more than 85 million genetic variants in the rhesus macaque. This makes it the largest database of genetic variation for any single nonhuman primate species. It is a big improvement over the first reference assembled in 2007, and they believe it can help analyze and answer fundamental questions in molecular genetics, cell biology and physiology, not just in rhesus macaques, but in humans and other primates and mammals.

This is a major step forward in the amount of information we have about genetic variation in the rhesus macaque, said Jeffrey Rogers, associate professor at the Human Genome Sequencing Center and Department of Molecular and Human Genetics at Baylor. We have actually identified thousands of new mutations in the population of research animals. Now colleagues all over the country who are investigating various aspects of health and disease using rhesus macaques can begin to make use of that information.

Common Diabetes Drug Linked to Rare COVID-19 Complications

Although diabetes is a known risk factor for COVID-19, researchers with Brigham and Women's Hospital have identified a rare COVID-19 complication with common diabetes drugs. The side effect is called euDKA, or euglycemic diabetic ketoacidosis. DKA occurs when the bodys cells do not absorb enough glucose and begin metabolizing fats instead, which results in a build-up of ketones. EuDKA is marked by lower blood sugar levels, making it harder to diagnose. The researchers evaluated five unusual euDKA cases that was a significantly higher level of incidence, all seen in COVID-19 patients taking sodium-glucose cotransporter 2 inhibitors (SLGLT2i). They believe that COVID-19 may increase the risk of euDKA by binding to cells on the pancreas that produce insulin. The three SGLT2 inhibitors approved by the FDA are Janssens Invokana (canagliflozin), AstraZenecas Farxiga (dapagliflozin) and Eli Lilly and Boehringer Ingelheims Jardiance (empagliflozin).

Whats Going on in the International Space Station?

The Expedition 64 crew took the day off for Christmas, but immediately afterwards went back to work on a variety of biological and medical research. Two studies evaluated new treatments for joint injuries and cancerone looked at bone, cartilage and synovium in artificial gravity chambers to better understand bone loss and joint damage; the second studied protein crystals grown in space and their ability to target cancer cells. A different study on several dozen mice evaluated the vascular changes in space on eyesight functionabout 40% of people working in space have vision changes from fluid shifts and radiation. Another experiment studied genetic changes in space and their impact on the growth and deterioration of bone tissue.

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Research Roundup: Different Antibody Responses to COVID-19 and More - BioSpace


Experts stress importance of following public-health advice as COVID-19 variant emerges – The Globe and Mail

Tuesday, January 5th, 2021

People wear face masks as they walk by an art installation in Montreal, Dec. 27, 2020, as the COVID-19 pandemic continues in Canada and around the world.

Graham Hughes/The Canadian Press

The emergence of a more contagious variant of the virus that causes COVID-19 does not require individuals to take new precautions, but it is now more important than ever that they follow existing public-health guidelines, doctors and scientists say.

While new variants of the virus SARS-CoV-2 have recently been detected in South Africa, Nigeria and Britain, the latter countrys version, called B117, has caused particular concern, as scientists estimate it is more transmissible than other mutations of the virus. This new variant has also been identified in people in Ontario, British Columbia, Alberta and Quebec, and the Canadian government has suspended flights from Britain until Jan. 6. Meanwhile in Britain, there are growing calls to impose another national lockdown and shut down schools and universities.

In a study, yet to be peer-reviewed, British scientists estimated B117 is 56 per cent more transmissible than pre-existing variants of the virus. Although they found no clear evidence that it affects the severity of illness, they warned that the increased transmissibility would likely lead to a surge in hospital admissions and deaths. They suggested strict lockdown measures may not be sufficient, unless primary schools, secondary schools and universities are closed.

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I would say that the current social distancing guidelines are more important than ever given this new variant, lead author Nicholas Davies of the London School of Hygiene and Tropical Medicine said in an e-mail. People should be cautious, follow the guidelines, and self-isolate if they suspect they may have been infected.

But the estimated increased transmissibility of the new variant does not mean existing public-health advice for personal protection such as wearing masks when you may come in close contact with others, keeping two metres away from people outside your household and maintaining hand hygiene will be less effective, experts say.

Rather than changing the current guidelines, Leighanne Parkes, an infectious-disease specialist and microbiologist at the Jewish General Hospital in Montreal, said she would be happy to see people actually follow them.

People take little shortcuts from time to time and give themselves little cheat days. And I think thats where the danger lies, when we let down our guard and we fail to remain vigilant, she said.

Dr. Parkes said family members have contacted her over the holidays, expressing worry that this new variant adds another twist to an already calamitous year. But, she explained, there have been numerous variants since the very emergence of SARS-CoV-2. And some, such as a variant called D614G, have become predominant worldwide.

Dr. Parkes said it is important to note that large task forces and working groups at the global level are trying to determine the significance of the changes to the virus in the new variant.

Technically, she said, it involves a mutation within a part of the binding loop, which is part of the virus that sticks to our ACE-2 receptors, the part of the cell to which the virus binds to gain entry. The concern is that since this mutation affects an important part of the virus and how it attaches to cells, it raises questions such as whether it has increased tissue-specificity that is, it binds to cells in the nose and upper respiratory tract where it can be spread through droplets with greater ease, whether smaller quantities of the virus can lead to infection, and whether it changes the way people respond to it.

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While there are experts working to rapidly answer these questions, I think as of now, we just dont know. These are all kind of black holes in our knowledge, she said.

In an e-mailed statement, Health Canada said the government is closely monitoring the variant and is working with international groups, including the World Health Organization.

While early data suggest that the United Kingdom variant may be more transmissible, to date there is no evidence that the mutations have any impact on symptom severity, antibody response or vaccine efficacy, it said, but noted evidence is limited at this time.

But no matter the variant, SARS-CoV-2 is a virus that transmits very easily, and it is well known that people can spread it when they are minimally symptomatic or asymptomatic, Dr. Parkes said.

As always, given the high potential for asymptomatic transmission of SARS-CoV-2, the most prudent course of action for individuals is to act as though they might have the virus, Dr. Davies at the London school added in his e-mail.

While the mutations of the new variant may change how efficiently people contract the virus, they do not change the mechanism by which it spreads, said Emanuel Goldman, a virologist and professor of microbiology, biochemistry and molecular genetics at Rutgers New Jersey Medical School.

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The main route of transmission is still through what we breathe, so wearing a mask in public places, particularly indoors, is still the first line of defence, Dr. Goldman said. There is no need to go back to wiping down groceries as many did at the beginning of the pandemic, since transmission of the virus from surfaces is almost non-existent, he said.

The virus may be more transmissible, but its not less fragile, he said, explaining it degrades rapidly when exposed to the environment.

When it comes to behaviours that stop the virus, everything should stay the same. What works for the parent will work for the variants, Dr. Goldman said.

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Experts stress importance of following public-health advice as COVID-19 variant emerges - The Globe and Mail


The Story of Evolution in 25 Discoveries Review: The Branching Tree of Life – The Wall Street Journal

Tuesday, January 5th, 2021

The great but grumpy biologist J.B.S. Haldane was once asked what evidence would disprove evolution, whereupon he growled: Fossil rabbits in the Precambrian. He was referring to the evolutionary fact that complex multicellular creatures came along later than simple, unicellular ones. A bit surprising, perhaps, that one of the foremost evolutionary geneticists of the 20th century immediately reached for a paleontological example, but Haldanes reply was well-suited for public consumption, because thenas nowwhen most people thought of evolution, they were likely to conjure images of dinosaur fossils.

Donald Prothero is a research associate in vertebrate paleontology at the Natural History Museum of Los Angeles County. When I learned he had written a book that examined 25 different discoveries relating to evolution, I assumed that he, like Haldane, would deploy paleontology in making his case. Mr. Protheros book is indeed tilted toward examples from the world of ancestral creatures, but, refreshingly, also guides the reader through impressive discoveries in embryology and molecular genetics.

The Story of Evolution in 25 Discoveries is a parade of self-contained vignettes, often including biographical sketches of the scientists who made and interpreted each discovery. This particular story begins (like everything else) with the big bang, followed by the fascinating tale of how science gradually came to understand the age of the Earth: From biblical literalism; through Lord Kelvins famous underestimate, in the 1890s, of 20 million years; to our current understanding of 4.5 billion years. Then comes a whirlwind tour of evolutionary change as it occurs, in real time, among microbes, plants, insects, fish, birds and mammals, obliterating the creationist canard that evolution hasnt even been witnessed, let alone studied.

Some of the most impressive evolutionary stories involve common body plans, technically known as homologies. Thanks to Mr. Prothero, I now know that Aristotle first noticed this widespread phenomenon, of which Darwin wrote: What can be more curious than that the hand of a man, formed for grasping, that of a mole for digging, the leg of the horse, the paddle of the porpoise, and the wing of the bat, should all be constructed on the same pattern, and should include similar bones, in the same relative positions? Curious indeed. And strongly suggestive of common descentor, for anti-evolutionists, of a Creators insistence on sticking with the same divine blueprint, or archetype, even when other more direct routes should have been available. The Darwinian story provides scientific insight into why homologies occur, whereas the theological story simply reiterates that they occur.

And on we go, to the embryonic similarities of otherwise distantly related creatures (ontogeny recapitulates phylogeny) and then biogeography (the sinking of Noahs Ark), which shows, among other relevant findings, that the flora and fauna of islands resemble those of nearby continentsa phenomenon that wouldnt necessarily be expected if each had been a special, independent creation. The story of life continues, detailing how living things within natural categories share those common body plans, or, as Darwin put it, how organic beings have been found to resemble each other in descending degrees, so that they can be classed in groups under groups. As a result, instead of being arbitrary, our system of biological classification conforms perfectly with the nested, branching patterns of evolutionary relationships demonstrated by anatomy, physiology and genetics. Moreover, as Mr. Prothero points out, if life had been specially created rather than evolved, there would be no reason for the molecular systems to reflect this pattern of similarity seen in megascopic features . . . [and] not even Darwin could have dreamed that the genetic code of every cell in your body also shows the evidence of evolution.

Originally posted here:
The Story of Evolution in 25 Discoveries Review: The Branching Tree of Life - The Wall Street Journal


New Year’s resolution 2021: A (last) word from Dr. Ervin – Boca Beacon

Tuesday, January 5th, 2021

BY THOMAS J ERVIN, MD We have somehow made it to the final week of 2020. Humorously it can be said that we can all look back at the first year of the pandemic, with usually accurate 20/20 vision. As we all move into 2021, there is time to consider New Years resolutions. This year that opportunity should not go unfilled.

The effects of COVID-19 have spared no one. Even the most skeptical of us, and the unbelievers have noticed something. The negatives are obvious: illness, personal loss, death, social distancing, and isolation to name a few. Positives can also be identified, including personal faith, strengthening family relationships, considering collective wellbeing, and finding value in simple daily routines.

For each of us the balance of the positives and the negatives results in how we see the pandemic and the events of 2020. This balance determines how we consider resolutions for the future. As I am not a student of politics and race relations, I will avoid those events in my reflection of 2020.

My first resolution for 2021 is that this will be the last article I write about COVID-19 and the pandemic. I have spent 40 years teaching, studying, and practicing medicine. I have seen the impact of molecular genetics and biology in most specialties including cancer medicine and infectious diseases. To witness the development of the applied science that has given us potentially preventative vaccines (now there are at least four) within a year is both astounding and unprecedented.

Just 65 years ago injectable inactivated polio vaccine (Dr. Salk) became a reality. It then took six more years for the oral vaccine (Dr. Sabin) to be commercially developed. The overall research effort took more than 20 years. Two doses given four to eight weeks apart provide life-long immunity. Yet eradication of the disease was not immediate.

While the United States is considered polio-free, it has taken until 2017 for the number of wild-type polio cases in the world to fall under 1,000 cases a year. Over the past 30 years, things have gotten better. With continued development of effective vaccine platforms and better understanding of the variables that affect vaccine efficiency (number of doses, added immunostimulants, immunosenescence with age), the vaccines of the 21st century have been more rapidly developed. Successful vaccines are now possible using inactivated intact virus, attenuated virus, toxoids that induce illness such as tetanus, and diphtheria, or subunit viral pieces as in the vaccines for Hepatitis B and Herpes virus. Other forms of vaccines exist, including conjugate vaccine and heterotypic vaccines such as BCG used to prevent tuberculosis and bladder cancer. The list grows yearly.

Now we have the first of a new wave of vaccines. The mRNA platform has arrived just in time. The mRNA-based vaccines being offered by Pfizer-NBiotech and by Moderna have been produced in record time. They come as a result of a decade of research developing innovative vaccines attempting to stimulate an immunologic response to both cancers and emerging viral threats such as Ebola. Synthetic production of mRNA nucleotide fragments and synthetic nanoparticle delivery envelopes have made possible the rapid development of the safe and effective vaccines now available to prevent coronavirus infection and COVID-19 illness. Similarly, the vaccines being developed by AstraZeneca, Novavax and Johnson & Johnson will quickly add options for effective vaccination for us all.

I say BRING IT ON!!!

Yet, in closing 2020, I think back on the history of vaccine development. Without comprehensive programs that incorporate the basics of public health, vaccination programs can work only so well or so fast. Surely, the rollout of the available vaccines will occur. The Boca Grande Health Clinic is in line with four separate pipelines for distribution. Unfortunately, the process is still too early for us to be able to identify the exact sources and timeline of delivery.

It is very likely that we will all have an opportunity for vaccination before the summer, but the next 90 to 180 days (not six to 20 years as in the past) will be critical for many of us. Unless we all buy into doing the right things collectively, COVID-19 will continue among us.

As my last words on COVID-19 (I promise), please wash your hands. Please wear a mask, especially indoors. And please distance yourself and avoid unnecessary indoor gatherings. Before Jenner figured out how to prevent smallpox just before 1800, one of every 13 persons living in London died or was severely disfigured by the disease. Be delighted you are living in 2021, at a time when science and public health policy can help you live well if you listen.

Have a happy and healthy 2021.

Thomas J. Ervin, M.D.

Boca Grande Health Clinic

Marcy Shortuse is the editor of the Boca Beacon, and has been with the paper since 2007. She is also editor of the Boca Beacon's sister publication, Gasparilla Magazine.She has more than 20 years of experience writing and editing local newspapers and is originally from the Chicago area.

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New Year's resolution 2021: A (last) word from Dr. Ervin - Boca Beacon


This healthtech startup uses AI to assess health risks of expectant mothers – YourStory

Tuesday, January 5th, 2021

A study conducted by the World Health Organisation (WHO) estimated that 5.2 million children under five years of age died mostly from preventable and treatable causes in 2019. This staggering number can be brought down if advanced technology meets medicine to develop an early warning system.

This is the path taken by CognitiveCare, a healthtech startup founded by Venkata Narasimham Peri and Dr Suresh Attili and based out of Hyderabad and California, US.

Venkata Narasimham Peri, popularly known as PV, was a technology business consultant for more than two decades, having worked with PwC and other organisations. He decided to become an entrepreneur at the age of 48 when he realised artificial intelligence (AI) could become a valuable tool for the healthcare industry.

PV partnered with Dr Suresh Attili, a leading oncologist and scientist, to start CognitiveCare in 2018. The duo toyed with various segments like mental health and cancer, but decided to focus on maternal and infant healthcare, given the enormity of the problem.

He adds that the world loses 800 women to pregnancy-related complications every day and millions go through very complex pregnancies.

Both the founders bootstrapped CognitiveCare with an investment of $300,000 and decided to build an AI technology platform that could provide all relevant health indicators of an expectant mother to her doctor.

This AI platform, Maternal Infant Health Insights and Cognitive Intelligence (MIHIC), is a neural network that analyses all data of an expectant mother and come out with a score.

The development of such an open-sourced AI computing model also required an interdisciplinary approach as it was not just about medicine or computing algorithms. It also delved into other subjects such as mathematics, statistics,genetics, and even sociology.

The CognitiveCare team is inter-disciplinary and includes research scientists with a mathematics background and others with a focus on molecular genetics and software codes.

CognitiveCare founders: Dr Suresh VS Attili (left) and Venkata Narasimham Peri

Risk assessment

The MIHIC platform analyses all medical, clinical, genetic, radiological, social, and lifestyle determinants to predict early signs of maternal, infant, and foetal risks.

In short, MIHIC provides scores on all 48 indicators. For example, PV says, their studies have shown that women who stay near the sea have a higher probability of developing folic acid deficiency.

The score we provide allows for early-risk detection so doctors can take preventive action, PV says. He clarifies that the job of CognitiveCare is to only provide indicators; the decision on the treatments is the doctors alone.

CognitiveCare has taken all mandatory approvals and is HIPAA-compliant; it meets the highest standards in terms of maintaining privacy of the patients identity and data.

The healthtech startup has been in stealth mode till now and its technology platform has evinced interest from leading medical schools and institutions in United States and India. For example, Brigham and Womens Hospital in Boston, Massachusetts, is directing the research study to test MIHIC.

PV believes the application and benefits of their technology platform are not restricted to just hospitals as others like the government, pharmaceutical companies, and even health insurance firms stand to gain.

It can also accelerate the drug discovery process for pharmaceutical companies with better insights on maternal and infant care. Insurance companies can assess risks more accurately by using this platform.

CognitiveCare will primarily look at markets in the US, the UK, and India.

PV says many medical institutes are willing to share data, and feels the healthtech startup has no direct competition as it provides a 360-degree view of womens maternal health.

The founder says CognitiveCare's focus for the next three to four years would be maternal and infant healthcare. The startup, which has already $900,000 in a seed round with a pre-money valuation of $8 million, says they will later explore other areas of health.

We not only want to empower the doctor, but our eventual goal is that every woman - not just an expectant mother - can gauge her obstetric health," PV says.

This healthtech startup uses AI to assess health risks of expectant mothers - YourStory


Common Brain Malformation Affecting About 1 in 100 Children Traced to Its Genetic Roots – SciTechDaily

Tuesday, January 5th, 2021

The lowest part of a childs brain is visible below the bottom of the skull in this MRI scan and shows evidence of a Chiari 1 malformation. Researchers at Washington University School of Medicine in St. Louis have shown that Chiari 1 malformation can be caused by variations in two genes linked to brain development, and that children with large heads are at increased risk of developing the condition. Credit: David Limbrick

Discovery could aid early screening, shed light on how Chiari malformation arises.

About one in 100 children has a common brain disorder called Chiari 1 malformation, but most of the time such children grow up normally and no one suspects a problem. But in about one in 10 of those children, the condition causes headaches, neck pain, hearing, vision and balance disturbances, or other neurological symptoms.

In some cases, the disorder may run in families, but scientists have understood little about the genetic alterations that contribute to the condition. In new research, scientists at Washington University School of Medicine in St. Louis have shown that Chiari 1 malformation can be caused by variations in two genes involved in brain development.

The condition occurs when the lowest parts of the brain are found below the base of the skull. The study also revealed that children with unusually large heads are four times more likely to be diagnosed with Chiari 1 malformation than their peers with normal head circumference.

The findings, published Dec. 21 in the American Journal of Human Genetics, could lead to new ways to identify people at risk of developing Chiari 1 malformation before the most serious symptoms arise. It also sheds light on the development of the common but poorly understood condition.

A lot of times people have recurrent headaches, but they dont realize a Chiari malformation is the cause of their headaches, said senior author Gabriel Haller, PhD, an assistant professor of neurosurgery, of neurology and of genetics. And even if they do, not everyone is willing to have brain surgery to fix it. We need better treatments, and the first step to better treatments is a better understanding of the underlying causes.

If people start experiencing severe symptoms like chronic headaches, pain, abnormal sensations or loss of sensation, or weakness, the malformation is treated with surgery to decompress the Chiari malformation.

Theres an increased risk for Chiari malformations within families, which suggests a genetic underpinning, but nobody had really identified a causal gene, Haller said. We were able to identify two causal genes, and we also discovered that people with Chiari have larger head circumference than expected. Its a significant factor, and easy to measure. If you have a child with an enlarged head, it might be worth checking with your pediatrician.

To identify genes that cause Chiari 1 malformation, Haller and colleagues sequenced all the genes of 668 people with the condition, as well as 232 of their relatives. Of these relatives, 76 also had Chiari 1 malformation and 156 were unaffected. The research team included first author Brooke Sadler, PhD, an instructor in pediatrics, and co-authors David D. Limbrick, Jr., MD, PhD, a professor of neurosurgery and director of the Division of Pediatric Neurosurgery, and Christina Gurnett, MD, PhD, a professor of neurologyand director of the Division of Pediatric and Developmental Neurology, among others.

Sequencing revealed that people with Chiari 1 malformation were significantly more likely to carry mutations in a family of genes known as chromodomain genes. Several of the mutations were de novo, meaning the mutation had occurred in the affected person during fetal development and was not present in his or her relatives. In particular, the chromodomain genes CHD3 and CHD8 included numerous variants associated with the malformation.

Further experiments in tiny, transparent zebrafish showed that the gene CHD8 is involved in regulating brain size. When the researchers inactivated one copy of the fishs chd8 gene, the animals developed unusually large brains, with no change in their overall body size.

Chromodomain genes help control access to long stretches of DNA, thereby regulating expression of whole sets of genes. Since appropriate gene expression is crucial for normal brain development, variations in chromodomain genes have been linked to neurodevelopmental conditions such as autism spectrum disorders, developmental delays, and unusually large or small heads.

Its not well known how chromodomain genes function since they have such a wide scope of activity and they are affecting so many things at once, Haller said. But they are very intriguing candidates for molecular studies, to understand how specific mutations lead to autism or developmental delay or, as in many of our Chiari patients, just to increased brain size without cognitive or intellectual symptoms. Wed like to figure out the effects of each of these mutations so that in the future, if we know a child has a specific mutation, well be able to predict whether that variant is going to have a harmful effect and what kind.

The association between chromodomain genes and head size inspired Haller and colleagues to measure the heads of children with Chiari malformations, comparing them to age-matched controls and to population averages provided by the Centers for Disease Control and Prevention. Children with Chiari tended to have larger than average heads. Those children with the largest heads bigger than 95% of children of the same age were four times more likely to be diagnosed with the malformation.

The findings suggest that children with larger heads or people with other neurodevelopmental disorders linked to chromodomain genes may benefit from screening for Chiari malformation.

A lot of kids that have autism or developmental disorders associated with chromodomain genes may have undiscovered Chiari malformations, Haller said. The only treatment right now is surgery. Discovering the condition early would allow us to watch, knowing the potential for serious symptoms is there, and perform that surgery as soon as its necessary.

Reference: Rare and de novo coding variants in chromodomain genes in Chiari I malformation by Brooke Sadler, Jackson Wilborn, Lilian Antunes, Timothy Kuensting, Andrew T. Hale, Stephen R. Gannon, Kevin McCall, Carlos Cruchaga, Matthew Harms, Norine Voisin, Alexandre Reymond, Gerarda Cappuccio, Nicola Burnetti-Pierri, Marco Tartaglia, Marcello Niceta, Chiara Leoni, Giuseppe Zampino, Allison Ashley-Koch, Aintzane Urbizu, Melanie E. Garrett, Karen Soldano, Alfons Macaya, Donald Conrad, Jennifer Strahle, Matthew B. Dobbs, Tychele N. Turner, Chevis N. Shannon, Douglas Brockmeyer, David D. Limbrick, Christina A. Gurnett and Gabe Haller, 21 December 2020, American Journal of Human Genetics.DOI: 10.1016/j.ajhg.2020.12.001

This study was funded by Sam and Betsy Reeves and the Park-Reeves Syringomyelia Research Consortium; the University of Missouri Spinal Cord Injury Research Program; the Childrens Discovery Institute of St. Louis Childrens Hospital and Washington University; the Washington University Institute of Clinical and Translational Sciences, grant number UL1TR000448 from the National Center for Advancing Translational Sciences of the National Institutes of Health (NIH); the Eunice Kennedy Shriver National Institute of Child Health & Human Development, award number U54HD087011 to the Intellectual and Developmental Disabilities Research Center at Washington University; the Swiss National Science Foundation, grant number 31003A_182632; and the Jrme Lejeune Foundation.

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Common Brain Malformation Affecting About 1 in 100 Children Traced to Its Genetic Roots - SciTechDaily


WUSTL Researchers ID Elusive Cause of Chiari 1 Brain Malformation – BioSpace

Tuesday, January 5th, 2021

The genetic cause of a common brain malformation has been traced to variations in two genes associated with brain development, according to researchers atWashington University in St. Louis (WUSTL). This news, published in the American Journal of Human Genetics, enables researchers to develop early screening methods before the most serious symptoms arise, and thus intervene.

Chiari 1 malformation is a common, yet poorly understood condition. It is present in about 1% of children and occurs when the cerebellum is displaced through the foramen magnum into the spinal canal, thus placing part of the brain below the base of skull.

Usually, the condition is harmless, causing no or only minor medical issues. In 10% of those children, however, Chiari 1 malformation causes problems severe headaches, neck pain, and issues with hearing, vision, and balance or other neurological manifestations.

Gabriel Haller, Ph.D., an assistant professor of neurosurgery, neurology and of genetics, and his colleagues conducted whole-exome sequencing on 668 children diagnosed with Chiari 1 malformation. It revealed significant enrichment of variants in the chromodomain genes. They found, specifically, a significant burden of rare, transmitted variants in CHD3 and three loss of function variants in CHD8. Many of these variations were de novo, occurring during fetal development and not among family members.

The researchers also found that children with Chiari 1 who had larger heads (compared to age-matched controls and to population averages provided by the Centers for Disease Control and Prevention) often had CHD variants. Specifically, those whose heads were larger than 95% of children of the same age were four times more likely to be diagnosed with the malformation.

Its a significant factor, and easy to measure. If you have a child with an enlarged head, it might be worth checking with your pediatrician, Haller, senior author of the paper, said in a statement.

For severe symptoms, the Mayo Clinic says surgery is the most common treatment. Its goal is to to reduce the pressure on the brain and to halt further anatomic changes to the brain and spinal canal. Surgery may involve removing bone at the base of the skull, opening the dura mater covering the brain, or removing part of the spinal column to provide more room for the brain or spinal cord.

A lot of times people have recurrent headaches, but they dont realize a Chiari malformation is the cause of their headaches, Haller said. And even if they do, not everyone is willing to have brain surgery to fix it. We need better treatments, and the first step to better treatments is a better understanding of the underlying causes.

Theres an increased risk for Chiari malformations within families, which suggests a genetic underpinning, but nobody had really identified a causal gene, Haller said. Of the 232 family members who also underwent gene sequencing, 76 also had Chiari 1 malformation and 156 were unaffected.

The involvement of the CHD8 gene in regulating brain size was confirmed, in further experiments, on transparent zebrafish. When the researchers inactivated one copy of the fishschd8gene, the animals developed unusually large brains, with no change in their overall body size.

The implications of the finding extend beyond Chiari 1 malformations. Chromodomain genes are involved in regulating multiple sets of genes. As such, they also play a role in a variety of neurodevelopmental conditions, such as autism and developmental delays.

Its not well known how chromodomain genes function, since they have such a wide scope of activity and affect so many things at once, Haller said. But they are very intriguing candidates for molecular studies, to understand how specific mutations lead to autism or developmental delay or, as in many of our Chiari patients, just to increased brain size without cognitive or intellectual symptoms.

Wed like to figure out the effects of each of these mutations so that in the future, if we know a child has a specific mutation, well be able to predict whether that variant is going to have a harmful effect and what kind.

More than 20 clinical trials are underway for this condition, according to Most involve surgical procedures, although a few involve diagnostics. The trial most relevant to drug developers may be a genetics study of 1,000 patients completed by researchers at Duke University in 2017.

While not definitive, it implicated the COL5A2, COL7A1, COL1A2 genes, associated with Ehlers-Danlos syndrome, epidermolysis bullosa, and other conditions; and NRP1, FLT1, VEGFA and VEGFB genes because of their roles in the growth signaling pathway and in placental and vascular development. It confirmed the role of genetics in Chiari malformations and implicated linkages to variations in 21 genes.

Data from a December 2020 study is still being analyzed by the National Institute of Neurological Disorders and Stroke to analyze genetic linkages.

A lot of kids that have autism or developmental disorders associated with chromodomain genes may have undiscovered Chiari malformations, Haller said. The only treatment right now is surgery. Discovering the condition early would allow us to watch, knowing the potential for serious symptoms is there, and perform that surgery as soon as its necessary.

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WUSTL Researchers ID Elusive Cause of Chiari 1 Brain Malformation - BioSpace


‘Keep calm and develop vaccines’: Meet the scientists behind the Oxford jab –

Tuesday, January 5th, 2021

The Oxford team is led by Sarah Gilbert, professor of vaccinology at the universitys Jenner institute. She has hailed thefirst authorisation of use of the vaccine outside clinical trialsas aday for the team developing the vaccine to celebrate, after a year of extremely hard work under difficult circumstances. Although in the same sentence she struck a typically cautionary note: We still have more to do

Even after their vaccine has become just the third in the world to be granted regulatory approval (following the Pfizer/BioNTech and Moderna vaccines), nobody could accuse the Oxford researchers of being swept away in the hype. Indeed Gilbert and others in her team have spoken openly about how little they have enjoyed the constant attention over the past year, preferring instead to focus on their life-saving work.

During that time, lucrative offers for after dinner speaking gigs have started to roll in for Gilbert, which she has rejected in turn. Another key member of the Oxford group, Professor Catherine Green, who heads the universitys clinical biomanufacturing facility, recently described the media attention as awful. Of their new-found fame, she added: Its not something that we got into our careers to do.

The motivations of the Oxford team can instead be neatly surmised by a mug that Gilbert keeps in her office at the Jenner Institute, which says: Keep calm and develop vaccines. It is a mantra that has served her and her colleagues well this year, juggling the exhaustion of constant work with family life.Gilbert, after all, is the mother of 21-year-old triplets (biochemistry students at Oxford and Bath Universities) who took part in the phase 1 clinical trials of the vaccine. Her regime has involved getting up at about 4am each day, cycling to the laboratory and returning home at about 8pm.

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