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Archive for the ‘Genetics’ Category

Germline genetic testing can benefit all cancer patients as a routine practice in cancer care – PRNewswire

Thursday, May 27th, 2021

"Cancer is a disease of genetics, yet clinical practice has struggled to keep pace with rapid advancements in research, particularly with respect to the role of germline genetics. Testing guidelines and medical policy often codify barriers, further lengthening the path to adoption of widespread testing and in some cases restricting access to precision therapies and clinical treatment trials," said Ed Esplin, M.D., Ph.D., FACMG, FACP, clinical geneticist at Invitae. "Research presented at ASCO shows that cancer-linked genetic changes are common across cancer types and when patients do receive germline testing, over two thirds of those with positive results are eligible for changes to their treatment plans. It's clear that incorporating germline testing alongside tumor profiling can help oncologists better tailor treatment for each patient."

Data from 250 pancreatic cancer patients from the landmark INTERCEPT study conducted at the Mayo Clinic found that nearly one in six patients with pancreatic cancer (n=38) showed cancer-linked genetic changes and, importantly, receiving germline testing was associated with improved survival.

A separate study of prostate cancer patients confirmed similar findings in other cancer types that limiting testing deprives patients and clinicians of actionable information. In the first-ever presentation of the PROCLAIM study, which was conducted primarily in community urology clinics, of patients diagnosed with prostate cancer, a significant number of cancer-linked variants were missed if testing was done based on NCCN guidelines. Of the 532 patients with clinician-reported data, nearly half, 45% (n=239), did not meet NCCN criteria. Overall, 59 patients had a cancer-linked variant; one in 10 of them did not meet the criteria (9.6%, n=23), and 12.3% (n=36) of patients met the criteria. When a 12-gene panel was used, only 29 patients were found to have a cancer-linked variant and one third of these patients were missed by guidelines.

A third study showed simply changing medical policy is not enough to drive changes in clinician adoption. In a review of two independent datasets, including commercially insured and Medicare Advantage enrollees, only 3% (n=1,675) of the 55,595 colorectal cancer patients received germline genetic testing, despite medical policy recommending germline genetic testing for all colorectal cancer patients (consistent with the INTERCEPT colorectal cancer study). Of the patients who received testing, 18% (n=143) had a cancer-linked variant and two thirds, or 67% (n=96), of those patients were potentially eligible for precision therapy and/or clinical trials.

"The data have been available for years that show knowing what changes patients have in their genes is beneficial to treating their cancer. Yet the oncology community has been slower to adopt germline testing than tumor profiling, for reasons that are not entirely clear. These data presented at ASCO highlight the need for oncologists to embrace germline genetic testing as routine practice for all cancer patients," said Robert Nussbaum, M.D., chief medical officer at Invitae. "A positive germline genetic result may enable patients to enroll in clinical trials or gain access to new precision medicines. And equally important, the discovery of an inherited variant can alert relatives to seek out earlier cancer screening, helping avoid later-stage diagnoses and offering a treatment benefit if cancer develops."

Invitae aims to help overcome obstacles to the adoption of genetic testing by providing physicians with clinical consults to help interpret results and reducing cost as a barrier to genetic information. Invitae also provides patients direct access to genetic counselors, helping to integrate routine genetic testing into patient care with GIA, a HIPAA-compliant chatbot. Family members are also able to receive no-charge genetic testing if a positive result is found.

Details of the 2021 ASCO presentations:

Oral Abstract Session: Prevention, Risk Reduction, and Hereditary Cancer

Poster Discussion Session: Prevention, Risk Reduction, and Hereditary Cancer

Poster Session: Prevention, Risk Reduction, and Hereditary Cancer

Poster Session: Gastrointestinal Cancer--GastroesophageaI, Pancreatic, and Hepatobiliary

About InvitaeInvitae Corporation(NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the benefits of germline testing and genetic information; and that the data presented at ASCO highlight the need for increased germline testing in all cancer patients regardless of medical policy. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended March 31, 2021. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Laura D'Angelo[emailprotected](628) 213-3283

SOURCE Invitae Corporation

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Germline genetic testing can benefit all cancer patients as a routine practice in cancer care - PRNewswire


Increasing genetic diversity in crops is important – Farm Progress

Thursday, May 27th, 2021

The loss of diversity in fields and gardens has real consequences, according to Tommy Carter, USDA professor, soybean breeding and genetics emeritus faculty, North Carolina State University. Carter explains the importance of increasing genetic diversity in crops in this Sustainable, Secure Food blog.

Modern crop varieties are often too uniform genetically speaking for good agricultural health, Carter writes. Thats because many new varieties are too closely related like cousins or siblings. This uniformity makes them less useful as breeding stock in current breeding efforts because they have lost useful genes which are still present in the landraces.

Soybean provides a good example regarding the insufficient diversity in modern varieties. Farmers domesticated soybean perhaps five thousand years ago in central China. These seeds spread through most of Asia via caravans with population migration. Adapting soybean to local conditions as soybean spread slowly over Asia, ancient farmers selected out more than 10,000 diverse varieties from domestication to the present. Many of these are now preserved by USDA and China in seed banks.

Although the thousands of old Asian soybean landraces are genetically diverse, modern U.S varieties are not. In the process of developing modern soybean varieties for U.S. farmers, the first generations of U.S. soybean breeders (~1930-1990) essentially ignored genetic diversity. They instead focused on adapting soybean for mechanical farming. Hundreds of new varieties were released to U.S. farmers in a successful endeavor to improve productivity, but these varieties were not very diverse, genetically speaking.

Today, U.S. soybean breeding programs are widely recognized as limited by insufficient genetic diversity. Breeding progress slowed, and the reasons are twofold:

Two landmark soybean USDA cultivars, Lee and Forrest, in the southern U.S. offer prime examples of this problem. They were released in the 1950s and 1970s. Their superior agronomics and popularity on the farm led to their heavy use as parental stocks for breeding during the following decades.

The result was a new generation of progeny (soybean children) that were highly related not only to the landmark varieties Lee and Forrest, but to each other as well. Although they performed well in the field, these brother and sister soybeans were not good mating stock for producing new varieties. The term inbreeding is often used to describe this effect in animal breeding, and the term applies here as well.

Short-term gains made in developing Lee and Forrest, thus, came at the expense of long-term progress. Diversity, the basis for new progress, was lost. But a new plan from the USDA-ARS, known as the 301 Plan, has the goal to restore diversity to applied breeding programs. Science in the 301 Plan results in new, unique breeding lines which have diverse pedigrees and genetics.

A new release of soybean USDA-N6004 is part of that effort. When new varieties of plants are certified by the USDA, they receive an official registration number. Some breeders then choose to name their variety with a more common name, such as Lee and Forrest soybean mentioned. Breeders created USDA-N6004 soybean by hybridizing of USDA cultivar NC-Roy and Japanese cultivar Blue Side. Blue Side is a vegetable (edamame) soybean that comes from outside the U.S.s genetic base. Japanese germplasm generally is not well represented as parental stock in U.S. breeding. Thus, Japan appears to be a rich untapped source of diverse genes for future U.S. soybean breeding.

Source: Sustainable, Secure Food blog written by members of the American Society of Agronomy and Crop Science Society of America, which is solely responsible for the information provided and is wholly owned by the source. Informa Business Media and all its subsidiaries are not responsible for any of the content contained in this information asset.

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Increasing genetic diversity in crops is important - Farm Progress


Atlas of Cocaines Effects on Gene Expression Mapped at Single-Cell Level in Fruit Fly Brain – Genetic Engineering & Biotechnology News

Thursday, May 27th, 2021

Scientists at the Clemson University Center for Human Genetics used single cell transcriptomics technology to identify how acute cocaine exposure affects specific cell clusters in the brain of the common fruit fly, Drosophila melanogaster. The studies, headed by geneticists Trudy Mackay, PhD, and Robert Anholt, PhD, found that cocaine use by the fruit flies elicited rapid, widespread changes in gene expression throughout the brain, and that the differences were more pronounced in males than in females. The investigators hope that the resulting atlas of sexually dimorphic cocaine-modulated gene expression could potentially lay the groundwork for developing drugs that would treat or prevent cocaine addiction in humans.

This research identifies the regions of the brain which are important, said Mackay, the Self Family Endowed Chair in Human Genetics. Now, we can see what genes are expressed when exposed to cocaine and whether there are Federal Drug Administration-approved drugs that could be tested, perhaps first in the fly model. Weve already spotted several of these genes. This is a baseline. We can now leverage this work to understand potential therapy.

Mackay, Anholt and colleagues report on their findings in Genome Research, in a paper titled, The Drosophila brain on cocaine at single cell resolution.

The propensity for cocaine use depends on both genetic and environmental factors, making it hard to study. And while the neurological effects of the drug are well known, scientists know much less about how gene variation may impact on sensitivity to the drugs effects. Furthermore, little is known about acute effects of cocaine consumption on genome-wide gene expression across the brain, they continued.

The fruit fly Drosophila melanogaster is a useful model for systems genetic analysis of cocaine consumption. The majority of the fruit fly genes have human counterparts, providing researchers with a comparable model when studying complex genetic traits. Flies can be reared rapidly in large numbers at low cost in defined genetic backgrounds and under controlled environmental conditions, and about 75% of disease-causing genes in humans have fly orthologs, the team pointed out.

Fruit flies exposed to cocaine showed impaired locomotor activity and increased seizures and, as the authors explained, exposure to cocaine also elicits motor responses in the fruit fly that resemble behaviors observed in rodents. flies in addition develop sensitization to repeated intermittent exposure to cocaine.

For their reported studies, the investigators allowed male and female flies to ingest a fixed amount of sucrose or sucrose supplemented with cocaine, over no more than two hours. Observation of the flies behavior after cocaine ingestion showed evidence that the drug exposure resulted in physiological and behavioral effects, including seizures and compulsive grooming.

To assess the effects of cocaine consumption on gene expression in the brain, the researchers dissected the fly brains into single cells. Using next-generation RNA sequencing technology they were able to make libraries of the expressed genes for individual cells.

To identify specific cell populations that respond to acute cocaine exposure, we analyzed single cell transcriptional responses in duplicate samples of flies that consumed fixed amounts of sucrose or sucrose supplemented with cocaine, in both sexes, the scientists explained. The single-cell technique is ultra-powerful and offers advantages over standard gene expression profile studies. If an entire brain is used and theres heterogeneity of gene expression, such that its up in one cell and down in another, you dont see any signal, Mackay commented. But with the single cell analysis, were able to capture those very, very fine details that reflect heterogeneity in gene expression among different cell types. It is very exciting to apply this advanced technology here at the CHG.

The investigators looked at 88,991 cells, with each cell having thousands of transcripts. Through sophisticated statistical analysis, the researchers were able to categorize the cells into 36 distinct cell clusters. Annotation of clusters based on their gene markers revealed that all major cell typesneuronal and glialas well as neurotransmitter types from most brain regions, including mushroom bodies, were represented. The study results showed that all types of fly brain cells were affected, especially Kenyon cells in the fly brains mushroom bodies, and some glia cells. Mushroom bodies, which get their name because they look like a pair of mushrooms, are integrative brain centers that are associated with experience-dependent behavioral modifications.

Interestingly, the study highlighted extensive sexual dimorphism in the response to cocaine. We found the effects of cocaine in the brain are very widespread, and there are distinct differences between males and females, added Anholt, Provosts Distinguished Professor of Genetics and Biochemistry. The investigators further stated, although cocaine-modulated changes in gene expression are widespread throughout the brain in both sexes, specific changes in transcript abundances are distinct between males and females We identified 691 differentially expressed genes in males and 322 in females following acute exposure to cocaine, of which ~69% have human orthologs. The scientists say the observed sexual dimorphism is in line with previous studies that showed reduced locomotion and increased grooming in flies given low doses of cocaine, with males showing more profound effects than femails.

The collective results of the teams analyses were used to generate what they say is an atlas of sexually dimorphic cocaine-modulated gene expression in a model brain. Ahnolt said its hoped that the atlas will serve as a resource for the research community.

functional parallels between the fly model and human studies provide proof of principle that results from cocaine exposure obtained from the fly model can be translated to human populations, the investigators stated. Thus, the comprehensive documentation of cocaine mediated modulation of gene expression which we have derived can serve as a contextual framework for future human studies.

Mackay is one of the worlds leading authorities on the genetics of complex traits. She has a longstanding interest in behavioral genetics and developing the fruit fly as a model for understanding the genetic basis of complex behaviors. Her laboratory developed the Drosophila melanogaster Genetic Reference Panel (DGRP), which now consists of 1,000 inbred fly lines with fully sequenced genomes derived from a natural population. The DGRP allows researchers to use naturally occurring variation to examine genetic variants that contribute to susceptibility to various stressors.

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Atlas of Cocaines Effects on Gene Expression Mapped at Single-Cell Level in Fruit Fly Brain - Genetic Engineering & Biotechnology News


Genetic breakthrough could save farmed salmon from flavobacteriosis – The Fish Site

Thursday, May 27th, 2021

The consortium has been exploring the genetics that determine whether fish are resistant to Flavobacterium psychrophilum a bacterium which can lead to health issues in salmon fry.

The discovery is expected to pave the way for selective breeding programmes, which could boost the health and welfare of farmed Scottish salmon by breeding new fish from parents that possess the genetic resistance markers and are, therefore, expected to display increased resistance to the bacteria.

Flavobacteriosis can be a particular threat to smaller, juvenile fish and is a widespread challenge for the aquaculture sector, with infections also reported in Chile, Norway and Canada. However, current prevention and treatment programmes are limited vaccination by injection cannot be used due to the size of the fish and, as the sector continues to move away from antibiotic treatments, a genetic breakthrough could hold the key.

The project is backed by the Sustainable Aquaculture Innovation Centre (SAIC) and led by AquaGen Scotland, with partners from the University of Stirlings Institute of Aquaculture, DawnFresh Farming and Cooke Aquaculture Scotland.

The Health and Welfare of Atlantic Salmon course

It is vital that fish farm operatives who are responsible for farmed fish are trained in their health andwelfare. This will help to ensure that fish are free from disease and suffering whilst at the same timepromote good productivity and comply with legislation.

Andrew Reeve, managing director of AquaGen, said: Continual improvements in fish health and welfare are priorities for the aquaculture industry, to which robust stock suited to the farmed environment make an important contribution. Genetic markers for disease resistance, such as those discovered through this SAIC-funded project, are valuable tools that can and will be immediately employed in breeding work.

To identify the two genetic markers, more than 4,000 fish from AquaGen were tested for more than 70,000 genetic markers using a specially designed lab-based model, which mimics the natural infection route. The next stage of the research programme is to conduct field trials at one of Cooke Aquacultures sites, using salmon eggs specifically selected by AquaGen. It is hoped that, in the event of a natural outbreak of the bacterial disease being detected, these fish can be tested to validate the effect of the genetic markers.

Heather Jones, CEO of SAIC, said: The interim results of this R&D project are highly encouraging and point towards a new, sustainable approach to tackling a common health issue reported in young salmon. One of the most valuable outputs of collaborative innovation projects is the wealth of knowledge that can be shared across the entire sector and findings like this have the power to make a big difference to fish health and welfare.

Dr Rowena Hoare, research fellow at the Institute of Aquaculture, added: Flavobacteriosis is known to be problematic for salmonid culture in freshwater globally for decades. This project has shown how fruitful it can be to combine the expertise of academic and industry researchers to address a complex and economically important disease.

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Genetic breakthrough could save farmed salmon from flavobacteriosis - The Fish Site


What genetic analysis reveals about the ancestry of South Africa’s Afrikaners – The Conversation CA

Thursday, May 27th, 2021

The story of human history is one of migrations over the globe and admixture the exchange of DNA between populations.

Two of the most dramatic of these migrations were slavery and European colonisation. The subsequent admixture between slaves, Europeans and indigenous populations led to the formation of new populations. One, at the southern tip of Africa, was a group that became known as Afrikaners.

Afrikaners predominantly stem from Dutch, French and German immigrants who settled in the Cape, in South Africa, during the second half of the 17th century and the first half of the 18th. Although later European immigrants were also absorbed into the population, their genetic contribution was comparatively small. Another small but significant genetic contribution came from slaves and the local, indigenous Khoekhoe and San populations. These groups were, respectively, pastoralists and hunter-gatherers and in this article we refer to them as the Khoe-San.

Ironically, despite Afrikaners admixed roots, they rose to notoriety for their draconian laws that aimed to segregate groups of people apartheid to allow discrimination against those not of European descent.

The colonisers required labourers and turned to slavery. In fact, there were more slaves than colonists at the Cape during the century preceding the abolition of the slave trade in 1807. The first 400 of these slaves arrived from West Africa in 1658. An estimated 63,000 slaves followed during the next 149 years. During the 17th and 18th centuries, most slaves came from South Asia. Slaves forcefully relocated to the Cape at the end of the 18th century predominantly came from East Africa.

People are, naturally, fascinated by their history. However, it is often poorly documented, recorded with bias, or not recorded at all. Given the central role that ethnicity played and still plays in South African politics, it would be good to have an unbiased estimate of Afrikaners genetic history. We set out to learn more about admixture in the formation of Afrikaners by looking at the genetic variation in their genomes.

Our research had six main findings. First, it confirmed the timing of admixture in the Cape. Second, it showed limited genetic contribution from southern Bantu-speakers, African farmers that colonised southern Africa from the north from about 500 AD onwards. It also confirmed the relative popularity of Indian women as wives among early colonists. It showed an unexpectedly frequent genetic contribution from the indigenous Khoekhoe and San populations and a greater West than East African genetic contribution in Afrikaners. Finally, there was a surprising lack of inbreeding.

Admixture during the formation of the Afrikaner population is recorded in genealogical sources. But these genealogies dont tell the full story, for several reasons.

Firstly, in the 17th and early 18th centuries some women used the toponym van de Kaap (meaning born at the Cape), irrespective of whether their parents were immigrants from Europe or slaves. Second, it has been suggested, but not recorded, that European farmers at the Cape had children with Khoe-San women.

Third, many of the children born in the Dutch East India Companys slave lodge had unknown European fathers. The slave lodge served as a brothel for passing sailors and other European men.

Several potentially important genetic source groups a substantial Muslim community, a small Chinese community and the local Khoe-San were not recorded because they were not Christian. And admixed couples would have been secretive about their relationships because marriages between slaves and Europeans were outlawed from 1685.

By comparing the Afrikaners in our study to 1,670 individuals from 32 populations across the world we found that 4.7% of Afrikaner DNA has a non-European origin. That may seem like a small percentage, but 98.7% of the Afrikaners were admixed.

Children whose parents are from different populations have one set of chromosomes from each population. With each generation the pairs of chromosomes one from each parent are snipped and pasted with one another; a process known as recombination. Repeated recombination results in shorter and shorter segments of DNA from the original populations.

By studying this effect, the age of the admixture was estimated to around 1681. Its around this time that colonisers began to settle at the Cape. In 1657, for instance, 142 employees of the Dutch East India Company were released from their employ to settle; 156 French Huguenots settled in 1688, and from 1675 yearly slave imports often exceeded 100 individuals. Therefore, this estimate aligns fairly well with genealogical and historical records of early colonial times at the Cape of Good Hope.

The admixture between European and Khoe-San was more common than church records suggest. In our study, though only 1.3% of Afrikaner genes came from the Khoe-San, most Afrikaners contained some Khoe-San genes.

The highest non-European contribution (1.7%) came from South Asia, or India. This reflects colonial mens stated preference for marrying freed Indian slaves during the founding years. A little less than 1% of Afrikaner genes have an East Asian (Chinese or Japanese) origin.

The contribution of West and East Africa is the lowest, at 0.8%. This is likely to stem from the almost 18,000 slaves imported from Africas west and east coasts. The fraction of genes from West Africa is slightly higher than from East Africa, reflecting the fact that while West African slaves were few, they arrived four generations before slaves from East Africa.

A common perception about Afrikaners is that they stem from very few ancestors, which would have resulted in inbreeding. Inbreeding results in long stretches of the paternal and maternal chromosomes being identical to each other. By looking at the lengths of identical stretches, it is clear that Afrikaners are as variable as the average European. This is in part due to admixture between non-Europeans and Europeans, but also because Europeans came from all over Europe.

The strongest European genetic contribution is from northwestern Europe, with the most similar population being the Swiss German population. This signal could also be interpreted as a mixture between German, Dutch and French populations as genealogical records indicate.

In conclusion, despite laws prohibiting mixed marriages from as early as 1658, and discrimination that culminated in the apartheid system, these genetic analyses confirm that most Afrikaners have admixed ancestry. Genealogical information has indicated as much, but these genetic findings are irrefutable.

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What genetic analysis reveals about the ancestry of South Africa's Afrikaners - The Conversation CA


People with rare diseases being left behind by Irish health system – The Irish Times

Thursday, May 27th, 2021

People with rare diseases are being left behind by the Irish healthcare system, an Oireachtas committee has heard.

The joint committee on health met on Wednesday to discuss improving the lives of those affected by rare diseases and their families.

The committee heard that people with rare conditions struggle to access genetic testing and Irish patients have less access to new drugs compared to other European citizens.

Witnesses at the committee also said the health system needs to train more genetic consultants as a matter of urgency due to severe staff shortages.

A rare disease is a condition that affects less than one person in every 2,000.

According to Rare Diseases Ireland, there are roughly 300,000 people living with rare conditions in Ireland.

Vicky McGrath, CEO of Rare Diseases Ireland, said that diagnosis for people with a rare condition is often delayed for many years. Would we accept delayed diagnosis and treatment in other specialities? We all know what a delayed diagnosis for cancer patients means, yet it is accepted as normal for a rare diagnosis to take several years, she said.

Ms McGrath added 72 per cent of rare conditions are genetic in origin, but genetic testing, genetic consultation and genetic counselling is difficult to access in Ireland.

The Clinical Genetics service in Childrens Health Ireland (CHI) at Crumlin provides a diagnostic, counselling and clinical genetic testing service for children and adults affected by or at risk of a genetic condition. This service is the sole provider to the population of Ireland.

Ms McGrath said the HSEs Review of the Clinical Genetics Medical Workforce in 2019 revealed the extent of the issue.

There are currently just three genetic consultants in position in CHI at Crumlin. The HSEs 2019 Review indicates that there should be 15. The most visible knock-on effect is growing waiting lists.

As of March 2021, there were 3,999 people on the waiting lists for clinical (medical) genetics, up from 3,052 just one year earlier; 1,392 of these are children under the age of 16.

Typically, the priority waiting list is between 15 and 18 months and routine referrals wait over two years to be seen. As of March, there were 941 people on the waiting list for over 18 months, and 657 of these were under the age of 16, said Ms McGrath.

Access to drugs is another issue. There was a report published yesterday [on Tuesday] around access to medicines. Of the 47 orphan medicines that were approved by the European Medicines Agency between 2016-2019, eight of them were available in Ireland for reimbursement.

Ninety-six per cent of them are available in Germany, 85 per cent in Denmark, 72 per cent in England; Scotland, a similar country to our own, has 47 per cent of them available. Our system is hindering access... we are being left behind.

Dr Sally Ann Lynch, consultant clinical geneticist from CHI said that in Ireland, the training programme for genetic consultants was delayed for a decade.

I set up the training scheme in the Republic, but it was blocked by the Medical Practitioners Act for about seven years, we werent allowed to set up any new training schemes. Its also very difficult to recruit from abroad... Ive been trying to get a locum and will keep trying until the day I die.

The situation in Northern Ireland is far better than in the south, according to Dr Lynch. They currently have six geneticists, who were all trained in the North. They set up a training scheme, and really supported it.

However, Ms McGrath said because the North has more services, there could be an opportunity for cross-border co-operation, to reduce waiting lists.

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People with rare diseases being left behind by Irish health system - The Irish Times


Discovery of a new genetic cause of hearing loss illuminates how inner ear works – National Science Foundation

Thursday, May 27th, 2021

Study shows link between mutations of GAS2 gene and ability to amplify incoming sound

Scientists have found a link between genetic mutations and hearing. Pictured: Cochlea in a mouse.

May 26, 2021

A gene called GAS2 plays a key role in normal hearing, and its absence causes severe hearing loss, according to a study led by researchers in the Perelman School of Medicine at the University of Pennsylvania.

The U.S. National Science Foundation-funded scientists discovered that the protein encoded by GAS2 is crucial for maintaining the structural stiffness of support cells in the inner ear that normally help amplify incoming sound waves. Their findings, published in Developmental Cell, showed that inner ear support cells lacking functional GAS2 lose their amplifier abilities, causing severe hearing impairment in mice. The researchers also identified people who have both GAS2 mutations and severe hearing loss.

"Anatomists 150 years ago took pains to draw these support cells with the details of their unique internal structures, but it's only now, with this discovery about GAS2, that we understand the importance of those structures for normal hearing," said study senior author Douglas Epstein, a geneticist at Penn Medicine.

Two to three of every 1,000 children in the United States are born with hearing loss in one or both ears. About half these cases are genetic. Although hearing aids and cochlear implants often can help, these devices seldom restore hearing to normal.

One of the main focuses of the Epstein laboratory is the study of genes that control the development and function of the inner ear -- genes that are often implicated in congenital hearing loss. The inner ear contains a complex, snail-shaped structure, the cochlea, that amplifies the vibrations from sound waves, transduces them into nerve signals, and sends those signals toward the auditory cortex of the brain.

A few years ago, Epstein's team discovered that Gas2, the mouse version of human GAS2, is switched on in embryos by another gene known to be critical for inner ear development. To determine Gas2's role in that development, the team developed a line of mice in which the gene had been knocked out of the genome.

The prevalence of hearing loss in people due to GAS2 mutations remains to be determined, but Epstein noted that this type of congenital hearing loss is an attractive target for future gene therapy.

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Discovery of a new genetic cause of hearing loss illuminates how inner ear works - National Science Foundation


‘Genelection’: Should We Select Children Based on Their Genetic Scores? – American Council on Science and Health

Thursday, May 27th, 2021

GWAS and Polygenic Risk Scores (PGS)

Genome-Wide Associations Studies (GWAS) employ statistical means of describing the genome. They can be used to calculate polygenic risk scores or polygenic scores (they go by both names), which can tell you how your genetic constitution compares to others. It also can predict traits, including the risk of diseases caused by multiple genetic combinations. (Heres more on GWAS and PGS).

But while your PGS can tell you that you may be at a higherriskof, say, coronary heart disease it wont tell youwhenyou might get sick or evenifyou will get sick at all. The most your PGS can tell you is yoursusceptibilityto disease. Nor does PGS factor in contributory causes like environmental insults or lifestyle, diet, or stress, which also influence disease onset.

Choice over Chance

PGS can tell you whats bad about your genome but it can also tell you whats good about it. For reproductive entrepreneurs, this translated into using these scores to select the best embryo for implantation following In Vitro Fertilization (IVF). At least one Americancompanyadvertises the technology to choose the healthiest embryo amongst the litter of recovered fertilized eggs.

It doesnt take much imagination to conjure the creation of a PGS for intelligence(some reports say it already exists and is available for the wealthy[1, 2])or aesthetics, using an algorithm for height, body-mass index, eye and hair color, skin tone, facial symmetry and Fibonacciproportionalityof features, or athleticism, including genetic markers for endurance, muscle mass, and strength. These scores would allow prospective parents to choose the embryo genetically destined to be the best looking, smartest,healthiest, or most athletic of their offspring that is, if you dont place much importance on environmental and personality factors, such as drive, discipline, resilience, and motivation. (Although at least one evolutionary geneticistclaimsthat even these factors are also genetically influenced [3])

Legally, in the United States, there is no problem using PGS to select the best embryo. Medically, it entails no additional risk to the embryo - IVF embryos are routinely screened for genetic markers that compromise gestation, anyway. So, the question remains: should this be done?

Bioethics and Beneficence

At least two noted bioethicist-scholars advocate in favor of genetic selectivity of embryos- based on an idiosyncratic reading of beneficence (the obligation of an individual to act for the benefit of another), one of the four bioethical principles offered by Beauchamp andChildress.

Julien Savulescuclaims it is a moralobligationfor prospective parents to choose the best child, meaning the most advantaged child, or at least the one with the greatest chance of having the best life, under the theory of procreative beneficence. Considerations of the future implications of such use amply depicted in fiction scenarios are ignored.For Savulescu, the concept ofwhochooses what constitutes best is unimportant. As to whether parents may be swayed by fashion, superstition, and outrageous conception of the good life, he (wrongly) claims there are legal constraints that aim to prevent the most egregious parenting choices.

Professor John Robertson holds a similar opinion invoking procreative liberty, which allows using an IVF procedure even if it increased the childs risks of injury. To Robertson, children born with these afflictions would not be harmed because the alternative future for them would be non-existence, [2] a belief that I do not share and havewrittenat length.

The Rights of the Child (Autonomy)

Autonomy, another ethical principle proffered by Beauchamp and Childress, is the right of self-determination.Those disagreeing with using PGS to select the best embryo claim the child has a right to an open future, and a parent who chooses the embryo scoring highest on one matrix might be directing the child in a direction adverse to what the child might have chosen herself.

Indeed, while parents typically chose a partner that facilitates a reproductive likelihood in a particular direction good parents dont push their offspring down a particular path (lest they spend years and big bucks on a shrinks couch undoing this primordial programming). To allow parents to choose their childs precise genetic destiny from the moment of conception trespasses on the childs right to choose what life she or he would like.

Social Justice to treat everyone equally and equitably

The third Beauchamp and Childress principle is justice, encompassing social justice. Here, the potential for societal danger conjured by the technology seems to have been ignored entirely by proponents of using PGS for embryo selection. Until these technologies can be made available to everyone, they will be the province of the rich whose children often begin life healthier by virtue of better environments, which is also said to boost intelligence scores (NB this isnotto be confused with intelligence).With plastic surgery, they are prettier. With drugs, their athletic performance is enhanced. The disparities of health outcomes from socio-economic determinants are well-studied, and the availability of this technology to the rich, when not available to all will only further expand the divide.

But even if the technology were available to all lets say to enhance intelligence, it wouldnt make one child any smarter compared to the next if she werent already destined to be.

If everyone might be genetically enhanced allwho are now smarterwould still be smarter genetically,their environments would still differ leading to the same state of affairs at least relatively speaking [4]

Non-Maleficence IVF can be dangerous

The final Beauchamp and Children ethical principle is non-maleficence do no harm. One might question using PGS at all, as it requires submitting to IVF. While IVF is a godsend to address infertility (and perhaps to select for children with certain immunological profiles to enable stem cell transplantation for sick siblings, as Ive previouslywritten), some suggest that IVF should not be routinely countenanced where infertility is not an issue as the procedure entails rare risks of its own both to mother and child-to-be, being responsible for a slight increase in birth defects among other problems(4).

Truth in Advertising and Biological Validity

Most of those in the know recognize that PGS are predictive only for populations.

We can certainly use genetics to look at statistical effects across populations, but this will give at best very fuzzy predictors for individuals.

Dr. Kevin Mitchell, geneticist [1]

Perhaps when there is only one prize being contested for, say, health, it might make sense to allow parents to choose the embryo with the probability of being healthiest (defined according to todays technology). But when we include the choice between various packages all involving probability functions no definite outcome can be predicted. How could one reasonably choose between an embryo with a 90% chance of being healthy or one with a 60% chance of being more intelligent than her siblings?

Perhaps more egregious is the failure to recognize the impact of pleiotropism, meaning that one gene has multiple effects. This consideration is important both in CRISPR gene-editing and PGS determinations.

Pleiotropisms come in two varieties, vertical and horizontal. In the first, the genetic variant under question affects one trait, say cholesterol, which in turn affects others, like the risk of heart disease. Of more concern are the horizontal variants, where one gene has multiple non-related effects. So, say you want to create a child with the least risk of mental health issues including a minimal risk of schizophrenia. Genes associated with reducedschizophreniarisk are also associated with both low and high body mass meaning if you choose against schizophrenia, you might also be selecting fora child likely to be obese. Since we arent conversant yet with the extent of genetic pleiotropisms, the unanticipated consequences of using PGS strongly cautions against its use at present.

Morality and Humanity

The magic promised by these technologies seems to have fairy-dusted the eyes of even the most intelligent.This raises the phantasm of PGS or gene-editing to cure or eliminate diseases, like schizophrenia, Lou Gehrigs disease, dyslexia, or dwarfism. How wonderful, we think, to eliminate these diseases from the face of the Earth. Perhaps not.

Had we given the parents of embryos containing markers for these diseases the chance to avoid birthing children with them, society would have been deprived of the contributions of John Nash (the Nobel prize winner in Mathematics), theoretical physicist Stephen Hawking, Carol Greider, the Nobel Laureate who discovered telomerase, and Professor Charles Steinmetz, the electrical engineering genius who boosted our capacities in electrical power systems, just to name a few who suffered from these conditions. And people who dont achieve high scores on any PGS rubric, like my friends dear daughter, would be denied existence if these scores were in common use - prevented from enriching and brightening our lives with their smiles, kindness, and their good cheer.

[1] Hannah Crichtlow,The Science of Fate,Hodder Press

[2] O. Carter Snead,What It Means to be Human, Harvard University Press

[3] Robert Plomin, Blue PrintHow DNA Makes Us Who We AreMIT Press (2018

[4]Genetically-Engineered Begots, Have-Nots, and Tinkered Tots: (High Scoring PolyGenic Kids as a Heredity-Camelot) - An Introduction to the Legalities and Bio-Ethicsof Advanced IVF and Genetic EditingSSRN.com3851431, Chicago-Kent Law Review (forthcoming) 2021

'Genelection': Should We Select Children Based on Their Genetic Scores? - American Council on Science and Health


How Big Data Are Unlocking the Mysteries of Autism – Scientific American

Sunday, May 2nd, 2021

When I started my pediatric genetic practice over 20 years ago, I was frustrated by constantly having to tell families and patients that I couldnt answer many of their questions about autism and what the future held for them. What were the causes of their childs particular behavioral and medical challenges? Would their child talk? Have seizures? What I did know was that research was the key to unlocking the mysteries of a remarkably heterogeneous disorder that affects more than five million Americans and has no FDA-approved treatments. Now, thanks in large part to the impact of genetic research, those answers are starting to come into focus.

Five years ago we launched SPARK ( Simons Foundation Powering Autism Research for Knowledge) to harness the power of big data by engaging hundreds of thousands of individuals with autism and their family members to participate in research. The more people who participate, the deeper and richer these data sets become, catalyzing research that is expanding our knowledge of both biology and behavior to develop more precise approaches to medical and behavioral issues.

SPARK is the worlds largest autism research study to date with over 250,000 participants, more than 100,000 of whom have provided DNA samples through the simple act of spitting in a tube. We have generated genomic data that have been de-identified and made available to qualified researchers. SPARK has itself been able to analyze 19,000 genes to find possible connections to autism; worked with 31 of the nations leading medical schools and autism research centers; and helped thousands of participating families enroll in nearly 100 additional autism research studies.

Genetic research has taught us that what we commonly call autism is actually a spectrum of hundreds of conditions that vary widely among adults and children. Across this spectrum, individuals share core symptoms and challenges with social interaction, restricted interests and/or repetitive behaviors.

We now know that genes play a central role in the causes of these autisms, which are the result of genetic changes in combination with other causes including prenatal factors. To date, research employing data science and machine learning has identified approximately 150 genes related to autism, but suggests there may be as many as 500 or more. Finding additional genes and commonalities among individuals who share similar genetic differences is crucial to advancing autism research and developing improved supports and treatments. Essentially, we will take a page from the playbook that oncologists use to treat certain types of cancer based upon their genetic signatures and apply targeted therapeutic strategies to help people with autism.

But in order to get answers faster and be certain of these results, SPARK and our research partners need a huge sample size: bigger data. To ensure an accurate inventory of all the major genetic contributors, and learn if and how different genetic variants contribute to autistic behaviors, we need not only the largest but also the most diverse group of participants.

The genetic, medical and behavioral data SPARK collects from people with autism and their families is rich in detail and can be leveraged by many different investigators. Access to rich data sets draws talented scientists to the field of autism science to develop new methods of finding patterns in the data, better predicting associated behavioral and medical issues, and, perhaps, identifying more effective supports and treatments.

Genetic research is already providing answers and insights about prognosis. For example, one SPARK familys genetic result is strongly associated with a lack of spoken language but an ability to understand language. Armed with this information, the medical team provided the child with an assistive communication device that decreased tantrums that arose from the childs frustration at being unable to express himself. An adult who was diagnosed at age 11 with a form of autism that used to be known as Aspergers syndrome recently learned that the cause of her autism is KMT2C-related syndrome, a rare genetic disorder caused by changes in the gene KMT2C.

Some genetic syndromes associated with autism also confer cancer risks, so receiving these results is particularlyimportant. We have returned genetic results to families with mutations in PTEN, which is associated with a higher risk of breast, thyroid, kidney and uterine cancer. A genetic diagnosis means that they can now be screened earlier and more frequently for specific cancers.

In other cases, SPARK has identified genetic causes of autism that can be treated. Through whole exome sequencing, SPARK identified a case of phenylketonuria (PKU) that was missed during newborn screening. This inherited disorder causes a buildup of amino acid in the blood, which can cause behavior and movement problems, seizures and developmental disabilities. With this knowledge, the family started their child on treatment with a specialized diet including low levels of phenylalanine.

Today, thanks to a growing community of families affected by autism who, literally, give a part of themselves to help understand the vast complexities of autism, I can tell about 10 percent of parents what genetic change caused their childs autism.

We know that big data, with each person representing their unique profile of someone impacted by autism, will lead to many of the answers we seek. Better genetic insights, gleaned through complex analysis of rich data, will help provide the means to support individualschildren and adults across the spectrumthrough early intervention, assistive communication, tailored education and, someday, genetically-based treatments. We strive to enable every person with autism to be the best possible version of themselves.

This is an opinion and analysis article.

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How Big Data Are Unlocking the Mysteries of Autism - Scientific American


Demand for Genetic and DNA Testing Spurring Adoption of Genealogy Products and Services: Fact.MR – BioSpace

Sunday, May 2nd, 2021

Surging demand for genetic and DNA testing and integration of big data science in genetic are creating lucrative opportunities

Fact.MR, Rockville MD: Fact.MRs recent study on the global genealogy products and services market has projected the market to grow at a healthy pace through 2021. Surging demand for genetics and DNA testing in the developed countries is anticipated to drive the market demand through 2021. Rising prevalence of genetic diseases such as autoimmune disease, cancer, diabetes has majorly augmented the demand for genetic testing across the globe. According to the study, the market is significantly fragmented and with leading players establishing their online presence in various regions is helping the market to grow rapidly.

Furthermore, genetic and DNA testing plays a vital role for the early diagnostics and preventive healthcare in case of rare autoimmune diseases, which is aiding the market demand. Also, the adoption of artificial intelligence and data science has provided ample of expansion opportunities to the market players. The growth of the market is highly dependent on the growth of Artificial Intelligence and information technology. Also, demand for genealogy in tracing lineage with the help of big data analytics has provided wide growth opportunities for genealogy products and services manufacturers.

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DNA and genetic testing are finding lucrative opportunities in the field of forensics as they adopt advance technologies to enhance the efficiency of investigation. This is boosting the adoption genealogy products and services in the forensics domain, says the Fact.MR analyst.

Key Takeaways

Prominent Drivers

Key Restraints

Discover more about the Genealogy products and services market with 32 figures, data tables and the table of contents.

Competitive Landscape

Key market players listed by Fact.MR for global genealogy products and services market includes MyHeriatge, WHSmith, 23andMe Inc., FamilySearch, Geneanet, WikiTree, FindmyPast, GenealogyBank, Living DNA, Billion Graves, and Family Tree DNA among others. According to the study, the market is expected to be fragmented. Key players are focused bolstering their online presence along with new product launches and novel services to attract more customer base.

For instance, in December 2020, Blackstone completed the acquisition of Ancestry, an online global leader in digital family history business, operating in more than 30 countries, for the price of US$ 4.7 Billion.

Also in 2019, Bode Technology, a leading provider of forensic DNA analysis products and services announced the launch of new forensic genealogy service offering to the law enforcement investigators and crime laboratories.

More Insights on the Genealogy products and services Market

In its latest report on genealogy products and services market, Fact.MR gives a detailed segmentation on the key growth drivers and opportunities expected to prevail the market in upcoming years. In order to understand the market perspective, trends and challenges, the market is segmented on the basis of category (family records, family tree, forum, cemetery, newspapers, blogs, links, and DNA testing), and across major regions (North America, Latin America, Europe, Asia Pacific and Middle East & Africa).

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Explore Fact.MRs Coverage on the Healthcare Domain

Genetic Testing Services Market: A recent study by Fact.MR on the genetic testing services market offers an unbiased analysis on the opportunities and trends through 2021 and beyond. The study analyzes crucial trends that are currently determining market growth. This report explicates on vital dynamics, such as the challenges, restraints, and opportunities for key market players along with key stakeholders and emerging players.

Genetic Analyzer Systems Market: Fact.MR gives a detailed assessment of Genetic analyzer systems market value chain analysis, business execution, and supply chain analysis across regional markets has been covered in the report. A list of prominent companies operating in the market along with their product portfolios enhances the reliability of this comprehensive research study.

Genetic Testing Panels Market: Fact.MR delivers an in-depth analysis on global genetic testing panels market with the strategies and competitive landscape through 2021 and beyond. The key players market share data provided by the report given you a detailed insights on the shortcomings and forthcomings of the market for the forecast period.

About Fact.MR

Market research and consulting agency with a difference! Thats why 80% of Fortune 1,000 companies trust us for making their most critical decisions. We have offices in US and Dublin, whereas our global headquarter is in Dubai. While our experienced consultants employ the latest technologies to extract hard-to-find insights, we believe our USP is the trust clients have on our expertise. Spanning a wide range from automotive & industry 4.0 to healthcare & retail, our coverage is expansive, but we ensure even the most niche categories are analyzed. Reach out to us with your goals, and well be an able research partner.

Contact:US Sales Office: 11140 Rockville PikeSuite 400Rockville, MD 20852United StatesTel: +1 (628) 251-1583E: sales@factmr.comFollow Us:LinkedIn | TwitterSource: Fact.MR

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Demand for Genetic and DNA Testing Spurring Adoption of Genealogy Products and Services: Fact.MR - BioSpace


Researchers Create CRISPR ‘On-Off Switch’ to Control Inherited Genetic Problems Without Changing DNA – Good News Network

Sunday, May 2nd, 2021

Scientists have figured out how to modify the unrivaled gene-editing tool CRISPR to extend its reach to the epigenome, which controls how genes are switched on or off.

The researchers from the University of California, San Francisco, and MITs non-profit Whitehead Institute for Biomedical Research and have already used the tool in the lab to mostly deactivate the gene that makes the protein Tau, which has been implicated in Alzheimers disease.

The novel CRISPR-based tool called CRISPRoff allows scientists to switch off almost any gene in human cells without making a single edit to the genetic codeand once a gene is switched off, it remains inert in the cells descendants for hundreds of generations, unless it is switched back on with a complementary tool called CRISPRon.

Because the epigenome plays a central role in many diseases, from viral infection to cancer, CRISPRoff technology may one day lead to powerful epigenetic therapies that are safer than conventional CRISPR therapeutics because it doesnt involve any DNA edits.

Though genetic and cellular therapies are the future of medicine, there are potential safety concerns around permanently changing the genome, which is why were trying to come up with other ways to use CRISPR to treat disease, said Luke Gilbert, PhD, a professor at UCSF and co-senior author of the new paper, published in the April 9 journal Cell.

Conventional CRISPR is equipped with two pieces of molecular hardware that make it an effective gene-editing tool. One component is a DNA-snipping enzyme, which gives CRISPR the ability to alter DNA sequences. The other is a homing device that can be programmed to zero in on any DNA sequence of interest, imparting precise control over where edits are made.

RELATED: Every Patient Treated With CRISPR Gene Therapy for Blood Diseases Continues to Thrive, More Than a Year On

To build CRISPRoff, the researchers dispensed with conventional CRISPRs DNA-snipping enzyme function, but retained the homing device, creating a stripped-down CRISPR capable of targeting any gene. Then they tethered an enzyme to this barebones CRISPR. But rather than splicing DNA, this enzyme acts on the epigenome, which consists of proteins and small molecules that latch onto DNA and control when and where genes are switched on or off.

The new tool targets a particular epigenetic feature known as DNA methylation, which is one of many molecular parts of the epigenome. When DNA is methylated, a small chemical tag known as a methyl group is affixed to DNA, which silences nearby genes. Although DNA methylation occurs naturally in all mammalian cells, CRISPRoff offers scientists unprecedented control over this process.

Another tool described in the paper, called CRISPRon, removes methylation marks deposited by CRISPRoff, making the process fully reversible.

Now we have a simple tool that can silence the vast majority of genes, said Jonathan Weissman, PhD, Whitehead Institute member, co-senior author of the new paper and a former UCSF faculty member. We can do this for multiple genes at the same time without any DNA damage, and in a way that can be reversed. Its a great tool for controlling gene expression.

Based on previous work by a group in Italy, the researchers were confident that CRISPRoff would be able to silence specific genes, but they suspected that some 30 percent of human genes would be unresponsive to the new tool.

POPULR: Scientists Use Gene-targeting Breakthrough Against COVID-19 Cells With CRISPR Tool Called PAC-MAN

DNA consists of four genetic letters A, C, G, T but, in general, only Cs next to Gs can be methylated. To complicate matters, scientists have long believed that methylation could only silence genes at sites in the genome where CG sequences are highly concentrated, regions known as CpG islands.

Since nearly a third of human genes lack CpG islands, the researchers assumed methylation wouldnt switch these genes off. But their CRISPRoff experiments upended this epigenetic dogma.

What was thought before this work was that the 30 percent of genes that do not have CpG islands were not controlled by DNA methylation, said Gilbert. But our work clearly shows that you dont require a CpG island to turn genes off by methylation. That, to me, was a major surprise.

Easy-to-use epigenetic editors like CRISPRoff have tremendous therapeutic potential, in large part because, like the genome, the epigenome can be inherited.

MORE: Revolutionary CRISPR-based Genome Editing System Destroys Cancer Cells Permanently in Lab

When CRISPRoff silences a gene, not only does the gene remain off in the treated cell, it also stays off in the descendants of the cell as it divides, for as many as 450 generations.

To the researchers surprise, this held true even in maturing stem cells. Though the transition from stem cell to differentiated adult cell involves a significant rewiring of the epigenome, the methylation marks deposited by CRISPRoff were faithfully inherited in 90 percent of cells that made this transition, which showed that cells retain a memory of epigenetic modifications made by the CRISPRoff system even as they change cell type.

They selected one gene to use as an example of how CRISPRoff might be applied to therapeutics: the gene that codes for Tau protein, which is implicated in Alzheimers disease. After testing the method in neurons, they discovered that using CRISPRoff could be used to turn Tau expression downalthough not entirely off. What we showed is that this is a viable strategy for silencing Tau and preventing that protein from being expressed, says Weissman. The question is, then, how do you deliver this to an adult? And would it really be enough to impact Alzheimers? Those are big open questions, especially the latter.

Even if CRISPRoff does not lead to Alzheimers therapies, there are many other conditions it could potentially be applied to. Their findings suggest that CRISPRoff would only need to be administered once to have lasting therapeutic effects, making it a promising approach for treating rare genetic disorders including Marfan syndrome, which affects connective tissue, Jobs syndrome, an immune system disorder, and certain forms of cancer that are caused by the activity of a single damaged copy of a gene.

ALSO: For First Time Ever, Scientists Have Cured Living Creatures of HIV and Eliminated Virus From DNA Entirely

While delivery to specific tissues remains a challenge, we showed that you can deliver it transiently as a DNA or as an RNA, the same technology thats the basis of the Moderna and BioNTech coronavirus vaccine, Weissman says.

Because the epigenome plays a central role in so many diseases, this exciting new technology may one day lead to powerful therapies to tackle our deadliest foes, although further work is needed to realize its full therapeutic potential.

EDIT Your Social Media Feed With This Hopeful Good News

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Researchers Create CRISPR 'On-Off Switch' to Control Inherited Genetic Problems Without Changing DNA - Good News Network


Genetic Counseling, the barriers to access, and how we overcome them – WFMZ Allentown

Sunday, May 2nd, 2021

ORLANDO, Fla., April 30, 2021 /PRNewswire-PRWeb/ --What is genetic counseling?

Genetic counseling is an integral part of the genetic screening, testing, and diagnosis process. It provides important services for individuals and families looking to understand more about their genetic health, their potential risks for developing a rare disease, and, in some cases, to understand a confirmed diagnosis of a rare disease as well.

Genetic counseling provides important information and knowledge about the causes and possible symptoms of rare diseases. It also helps put a patient's family medical history, their own medical history, and their symptoms within the context of a rare disease diagnosis. It improves the accuracy of the genetic diagnosis process and helps patients gain access to more targeted genetic testing for a more accurate result and diagnosis.

It is also important for the role it plays in providing patients and families with emotional support during challenging and sometimes stressful processes. It helps connect patients to rare disease networks and support groups as well.

Genetic counseling acts as a bridge between a patient and the medical world - it translates medical jargon, test results and coordinates the different parts of a rare disease patient's care management and possible treatment options.

Barriers to accessing genetic counseling

There are several main barriers to accessing genetic counseling. The implications of these barriers can have profound and long-lasting effects on the diagnosis and care of rare disease patients.

The diagnosis of rare diseases is already fraught with misdiagnosis and delayed diagnosis - some patients face a wait of anywhere between 4-8 years to receive a correct diagnosis. Part of this delay is caused by a lack of access to genetic counseling services and support.

This delay in reaching a diagnosis can, in turn, lead to delays in treatment and support for rare disease patients. Improving patient outcomes starts with an accurate and timely diagnosis.


For many people, location is a considerable obstacle to accessing genetic counseling services. This is a particular problem for people who live in rural or remote areas. Still, even with larger urban areas and centers, location can be a real barrier to genetic counseling services.


As awareness about genetic screening, genetic testing, and rare diseases increases, so does the demand for genetic counseling. This creates increased pressure on a much-needed service and can lead to long wait times for appointments. This, in turn, creates a barrier to access and delays access to genetic counseling.


For some patients, the cost of genetic counseling, including transport costs to get there, can create an insurmountable barrier to accessing the service.


Not everyone is aware of the importance of genetic counseling during the genetic diagnosis process. Not everyone is aware of the full range of services and support provided by a genetic counselor. For others, there is a barrier in understanding how and where they can access genetic counseling services and whether overcoming these barriers is worth it.

Overcoming barriers to genetic counseling

Increasing accessibility to genetic counseling services is important if we continue to raise awareness around rare diseases and ensure that rare disease patients get an accurate diagnosis fast. The faster patients receive a diagnosis, the faster they can manage their condition and related symptoms and improve their long-term outcomes.

So, how do we achieve this?

Online or virtual genetic counseling is one solution that removes all of the current barriers to accessing genetic counseling - location, availability, cost, and awareness - and ensures any patient from anywhere in the world can connect with a network of global genetic counselors and experts, from the comfort of their own home.

Online genetic counseling is easy to access. All it requires is a connected device with video. This means no traveling is involved, no logistical challenges to overcome, and it means accessing genetic counseling from a place and time that works for the patient and their family. It also removes scheduling conflicts and tries to fit genetic counseling and traveling to it into a family's schedule when moved online. There is greater flexibility in where and when, and this benefits everyone.

Moving genetic counseling online also increases availability - it removes wait times for a genetic counselor nearby and allows patients to look further afield for a genetic counselor, regardless of where the patient or counselor is in the world. This creates access to a broader pool of genetic experts and helps patients secure appointments faster. It also helps reduce costs and may ensure more competitive pricing for genetic counseling services as well.

Also, moving genetic counseling online should help raise awareness about its crucial and essential services for rare disease patients and their families. Greater accessibility naturally means greater awareness.

The FDNA Telehealth platform is designed to connect rare disease patients to a global network of genetic experts almost immediately. From the first meeting with a genetic counselor to more specific guidance with genetic testing and analysis options to understand how to manage a rare disease, online genetic counseling delivers help, information, and support fast.

Media Contact

Ido Rabiner, FDNA Telehealth, +1 877-327-0735,

SOURCE FDNA Telehealth

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Genetic Counseling, the barriers to access, and how we overcome them - WFMZ Allentown


Diagnosed with a rare genetic condition, young Winston Salem boy improves with new medication – WXII12 Winston-Salem

Sunday, May 2nd, 2021

This past year was tough on us all but living through a pandemic was not the only challenge the Whitler family had to overcome.Joanna Whitler says she was shocked when she found out that 6-month-old baby Luke had a rare genetic medical condition called spinal muscular atrophy also known as SMA.The condition impairs an individuals muscles and motor neurons by not producing enough protein to keep up with the bodys functions.After undergoing multiple treatments, Luke is now taking a new, recently FDA approved medicine called Evrysdi. Which is the first and only take-home medicine to treat FDA. After a short time taking it, his family is already seeing multiple improvements. During Christmas this year, Bodhi, his older brother, asked Santa for a PJ mask doll and for Luke to crawl. And he got a PJ mask doll on Christmas, Luke did not crawl until March, but he is now crawling, Whitler said. The family says they hope the medicine will continue to make Luke improve and that his story will help spread awareness for SMA.

This past year was tough on us all but living through a pandemic was not the only challenge the Whitler family had to overcome.

Joanna Whitler says she was shocked when she found out that 6-month-old baby Luke had a rare genetic medical condition called spinal muscular atrophy also known as SMA.

The condition impairs an individuals muscles and motor neurons by not producing enough protein to keep up with the bodys functions.

After undergoing multiple treatments, Luke is now taking a new, recently FDA approved medicine called Evrysdi. Which is the first and only take-home medicine to treat FDA.

After a short time taking it, his family is already seeing multiple improvements.

During Christmas this year, Bodhi, his older brother, asked Santa for a PJ mask doll and for Luke to crawl. And he got a PJ mask doll on Christmas, Luke did not crawl until March, but he is now crawling, Whitler said.

The family says they hope the medicine will continue to make Luke improve and that his story will help spread awareness for SMA.

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Diagnosed with a rare genetic condition, young Winston Salem boy improves with new medication - WXII12 Winston-Salem


Google News’ "Genetics" Section Is Full of Articles About People Named Gene – Futurism

Sunday, February 14th, 2021

Why is Google pulling up "Genetics" stories about Gene Simmons?Celebrity Gossip

If you try to look up the latest genetics news on Google News right now, youll find less information on the latest biomedical research and perhaps a little bit more about celebrities than you expected.

Google News algorithm seems to be pulling stories about people named Gene into the mix the news feed is full of articles about KISS frontman Gene Simmons, comedian Amy Schumers son Gene, and former National Economic Council Director Gene Sperling. Its a harmless glitch, to be sure, but also a bit puzzling given Googles global leadership in the AI industry.

A Google spokesperson told Futurism that theyre going to look into this, but didnt clarify what went wrong with the Google News algorithm or why.

But from an outsiders perspective, it seems like someone at Google told the algorithm to feature stories that have the word gene in their headline without checking whether they talk about music icons or cellular biology. To be fair, it gets confusing.

Well let you know if Google gets back to us, but the more likely outcome is that the glitch gets quietly fixed without Google announcing that something went wrong. Still, were holding out hope that well learn about some intern who accidentally cranked a big lever with Gene news written on it all the way up or something like that.

In the meantime, feel free to enjoy the feed of carefully-curated biomedical and KISS news that Google put together.

More on questionable science news: This Awful Tabloid Predicts a Killer Asteroid Almost Every Day

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Google News' "Genetics" Section Is Full of Articles About People Named Gene - Futurism


Global Animal Genetics Market Forecast to 2027 by Product (Poultry, Porcine, Bovine, Canine), Material (Semen and Embryo), and Services (DNA Typing,…

Sunday, February 14th, 2021

DUBLIN--(BUSINESS WIRE)--The "Animal Genetics Market Forecast to 2027 - COVID-19 Impact and Global Analysis By Product (Poultry, Porcine, Bovine, Canine, and Others), Genetic Material (Semen and Embryo), and Services (DNA Typing, Genetic Trait Tests, Genetic Disease Tests, and Others) and Geography." report has been added to's offering.

Genetic material and Services the market is expected to reach US$ 7,705.23 million by 2027 from US$ 4,778.67 million in 2019. The market is estimated to grow at a CAGR of 6.3% from 2020 to 2027.

Based on product, the market is segmented into poultry, porcine, bovine, canine, and others. In 2019, the porcine segment accounted for the highest share of the market. Growth of this segment is attributed to rise in production of porcine and increase in pork consumption across the globe. The same segment is likely to register highest CAGR in the global animal genetics market during the forecast period.

In terms of genetic material, the animal genetics market is segmented into embryo and semen. The embryo segment held the largest share of the market in 2019, whereas the semen segment is anticipated to register the highest CAGR of 7.0% in the market during the forecast period.

COVID-19 pandemic has become the most significant challenge across the world. This challenge would be frightening, especially in developing countries across the globe, as it may lead to reducing imports due to disruptions in global trade, which further increases the shortages of meat and dairy product supplies, resulting in a considerable price increase. Asian countries such as China, South Korea, and India are severely affected due to COVID-19 outbreak.

NEOGEN Corporation, HENDRIX GENETICS BV, Zoetis Inc., Genus, TOPIGS NORSVIN, Envigo, VetGen, ANIMAL GENETICS INC., ALTA GENETICS INC., and Groupe Grimaud are among the leading companies operating in the animal genetics market.

Key Topics Covered:

1. Introduction

1.1 Scope of the Study

1.2 Report Guidance

1.3 Market Segmentation

2. Animal Genetics Market - Key Takeaways

3. Research Methodology

4. Animal Genetics Market - Market Landscape

4.1 Overview

4.2 PEST Analysis

4.3 Expert Opinions

5. Animal Genetics Market - Key Market Dynamics

5.1 Market Drivers

5.1.1 Growing Preference for Animal Derived Proteins Supplements and Food Products.

5.1.2 Rising Adoption of Progressive Genetic Practices Such as Artificial Insemination (AI) and Embryo Transfer

5.2 Market Restraints

5.2.1 Limited Number of Skilled Professionals in Veterinary Research

5.2.2 Stringent Government Regulations for Animal Genetics

5.3 Market Opportunities

5.3.1 Innovations in Phenotyping Services

5.4 Future Trends

5.4.1 Significant Investments in R&D and Expansions Undertaken by Market Players

5.5 Impact Analysis

6. Animal Genetics Market - Global Analysis

6.1 Global Animal Genetics Marker Revenue Forecast and Analysis

6.2 Global Animal Genetics Market, By Geography - Forecast And Analysis

6.3 Market Positioning of Key Players

7. Animal Genetics Market Analysis - By Product

7.1 Overview

7.2 Animal Genetics Market Revenue Share, by Product (2019 and 2027)

7.3 Poultry

7.4 Porcine

7.5 Bovine

7.6 Canine

8. Animal Genetics Market Analysis - By Genetic Material

8.1 Overview

8.2 Animal Genetics Market Revenue Share, by Genetic Material(2019 and 2027)

8.3 Semen

8.4 Embryo

9. Animal Genetics Market Analysis - By Service

9.1 Overview

9.2 Animal Genetics Market Share, by Service, 2019 and 2027, (%)

9.3 DNA Typing

9.4 Genetic Trait Tests

9.5 Genetic Disease Tests

10. Animal Genetics Market Analysis and Forecasts To 2027 - Geographical Analysis

11. Impact of COVID-19 Pandemic On Global Animal Genetics Market

11.1 North America: Impact Assessment of COVID-19 Pandemic

11.2 Europe: Impact Assessment of COVID-19 Pandemic

11.3 Asia-Pacific: Impact Assessment of COVID-19 Pandemic

11.4 Rest of the World: Impact Assessment of COVID-19 Pandemic

12. Industry Landscape

12.1 Overview

12.2 Growth Strategies Done by the Companies in the Market, (%)

12.3 Organic Developments

12.3.1 Overview

12.4 Inorganic Developments

12.4.1 Overview

13. Company Profiles

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Global Animal Genetics Market Forecast to 2027 by Product (Poultry, Porcine, Bovine, Canine), Material (Semen and Embryo), and Services (DNA Typing,...


Genetics the next frontier of healthcare – Bangkok Post – Bangkok Post

Sunday, February 14th, 2021

China is banking on genetics as the next frontier of modern healthcare. From genetic testing and sequencing to gene therapy and precision medicine, this range of transformative technologies and services can underpin medical treatments and inform lifestyle choices.

Precision medicine -- using genetic information to determine treatments -- enables healthcare to move away from a one-size-fits-all approach where patients are treated with the same therapy, to one where targeted treatments are based on a patient's DNA and biomarkers.

The Chinese government and private sector are leading the charge globally, encouraging nationwide collection of DNA samples and investing in data analysis tools.

The Beijing Genome Institute, the world's largest sequencer and repository of genetic material, says it is capable of decoding the entire genomes of 100,000 people a year for no more than US$100 per person. In 2017, genetic testing was listed in China's 13th Five-Year Plan as one of the key growth strategies for the life sciences sector.

While some companies continue to work on breakthrough technology for whole-genome sequencing, others are focusing on the direct-to-consumer DNA test industry that only analyses small sections of a person's DNA. These consumer tests are marketed at younger people who are interested in their genealogy or are seeking health predictions and suggestions for lifestyle adjustments.

For as little as $3, you can provide a saliva sample to a company in exchange for information such as risks of developing chronic illnesses, how to lose weight and how to care for your skin. This market is expected to generate sales of $405 million in China by next year.

Last December, the consumer genetic testing company Genebox raised $14 million in financing. It has lowered the price a DNA test to 19.90 yuan ($3) since entering the market in 2018. More than 2.2 million people in China had used Genebox's service as of the end of 2019. This number is forecast to increase to 56.8 million by 2022, according to the consultancy Yi Ou.

As mass-market genetic testing becomes more commonplace, and the Chinese government ramps up efforts to develop its national DNA database, observers have raised the issue of privacy and personal data protection.

Companies such as Genebox have committed to not sharing personal information with third parties. However, exceptions exist, including having to comply with laws and regulations, as well as sharing user data with subsidiaries and related organisations for medical research and product development purposes.

Currently, China does not have specific legislation in place to protect personal data, including genetic data, at the national level. However, regulations are being developed. The Standing Committee of the National People's Congress of China has outlined a legislative agenda for a data protection law that is set to be enacted next year.

Overcoming data privacy concerns will be key to unleashing the full benefits of genetic testing. Structural efforts should be made to overcome these issues, such as transparency over how such powerful personal data is used. Close collaboration is needed between genetic testing companies, doctors, patient rights advocates, regulatory agencies and insurers.

Although precision medicine is still in its infancy, it is attracting great interest, including from Thailand. I hope the new privacy laws due to be introduced this year are broad enough to cover these emerging technologies so that we are ready to protect people once they become mainstream.

Genetics the next frontier of healthcare - Bangkok Post - Bangkok Post


Front Range Biosciences Introduces A New Class of THCv Genetics That Will Boost Market Opportunities for New Consumer Experiences and Functional…

Sunday, February 14th, 2021

BOULDER, Colo., Feb. 9, 2021 /PRNewswire/ -- Front Range Biosciences ("FRB"), a cannabis and hemp genetics platform company, leveraging next generation breeding technology and R&D, todaybecame one of the first genetics providers to launch a new product line of high THCv plant varieties, in California, with availability in Colorado through licensed partners leveraging FRB's technology platform. This first generation product line is among the highest producers of THCv available, containing more than 20% total cannabinoids, more than 8% THCv, and over 2% grassy and fruity terpenes. These new varieties yield twice the yield of typical THCv producing plants. THCv is rare and has been an elusive minor cannabinoid until now, with exciting new properties for consumers that report appetite suppression and energizing, less psychoactive experiences.

"FRB is continually developing new genetics to help growers, brands, and consumers find new applications for cannabis," said Dr. Jonathan Vaught, CEO of Front Range Biosciences. "The cannabis market is evolving quickly, and consumers are constantly looking for new and unique experiences, just like in other CPG industries. We are leveraging genomics driven breeding to rapidly develop new products for cannabis companies and brands, unlocking new product opportunities from the incredible diversity of chemistry this plant produces. THCv represents just one of many new products we are making more accessible to the supply chain from this versatile plant through breeding, and we have many other unique products in development for other potential categories like edible ingredients, nutraceuticals and even pharmaceuticals.

This is the first THCv product line from FRB's world-renowned breeding program and expansive cannabis genetics library. This revolutionary THCv variety will pave the way for more unique consumer products, medical research and therapeutics. There is also a growing body of research linking THCv to a number of potential therapeutic benefits, including regulating tremors and seizures in ALS and Parkinson's patients, blocking fight or flight responses in PTSD, and acting as an effective analgesic for treating pain and migraines.

Since FRB's strain debuted on the market in California, it has become a favorite among local consumers. "It has a smooth, spicy-sweet smoke that creates a functional high. The THCv allows me to stay focused throughout the day, and I love that it's the opposite of most cannabis flower and keeps the munchies at bay," said Tricia Goldberg.

FRB's latest offering makes THCv more accessible by providing genetics that drastically increase yields, significantly reduce harvest times, deliver a variety of terpenes for improved flavor, as well as produce significantly higher levels of THCv, compared to the limited number of other THCv genetics that are currently available. These improvements in the finished product profile will open the door for new product opportunities for THCv flower-based products including smokable flower, pre-rolls, and concentrates, providing exciting new experiences for cannabis consumers.

"THCv, along with other minor cannabinoids, terpenes, and even flavonoids, have been a challenging group of traits for breeders to develop while maintaining the level of vigor and yield needed to introduce these products into the supply chain effectively," says Dr. Reggie Gaudino, VP of R&D for Front Range Biosciences. "The many years of genomics and chemistry research our team has been committed to for cannabis is allowing us to help growers and product companies do so much more with the plant than what was possible, even just a few years ago."

Growers have faced challenges producing cannabis containing high THCv content. The price of THCv has remained high due to significant lack of supply, and product availability has been extremely limited. This new class of THCv genetic products provides a timely solution to both issues, creating lucrative opportunities for cultivators and operators.

About Front Range Biosciences

Front Range Biosciences is a premier cannabis and hemp genetics platform company, creating and supporting innovative new products across multiple industries by combining next generation agricultural technologies with the world's top hemp and cannabis R&D program. FRB provides leading-edge solutions to growers, brands, and product manufacturers through its unique varieties of seeds, young plants, and technology licensing to drive product development and production efficiency for cannabis and hemp derived products. Since 2015, the company has been dedicated to creating new product opportunities and solving challenges throughout the supply chain by leveraging proprietary next generation breeding, chemistry, and tissue culture technologies. In addition to FRB's groundbreaking technology, the company has also established genetics services dedicated to the California market and a Shimadzu sponsored Hemp Center of Excellence with top-tier researchers to encourage further innovation in the industry. FRB is the company of choice for cultivators that demand unique, quality, consistent products. For more information on Front Range Biosciences, visit

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Front Range Biosciences Introduces A New Class of THCv Genetics That Will Boost Market Opportunities for New Consumer Experiences and Functional...


Canine genetics, health to be explored at summit –

Sunday, February 14th, 2021

Preserving and enhancing genetic diversity in dog breeds is set to be explored at an upcoming virtual educational conference.

Scheduled for Feb. 15 and 16, Embark Veterinarys Canine Health Summit will feature presentations, panel discussions, and interactive sessions presented by various experts across the canine health landscape.

The free event, which targets veterinarians, breeders, and pet owners, will also include a keynote address by Duke University professor, Brian Hare, PhD, MA. Additionally, a roundtable discussion led by the Westminster Kennel Club will explore the history of purebred dogs, and how breeders and owners can work together to improve the long term health and vitality of specific breeds.

This summit is an opportunity to bring together a diverse group of stakeholders who are all committed to canine health and discuss ways to work together to accelerate the pace of discovery in the future, says Embarks chief science officer, Adam Boyko, PhD.

In lieu of registration fees, attendees are invited to contribute to the summits fundraiser, benefiting Morris Animal Foundation to support canine health research. Embark will also provide a matching donation of up to $5,000, the company says.

Morris Animal Foundation, as part of its research portfolio, has a long history of investing in canine genetics research to advance the health of dogs, says the foundations chief development officer, Ryan Welch. Were deeply appreciative of the generosity of Embark, and participants in the Canine Health Summit, for their contributions to help ensure this work continues.

To register, click here.

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Canine genetics, health to be explored at summit -


Drug Resistance Conferring Mutation and Genetic Diversity of Mycobacte | IDR – Dove Medical Press

Sunday, February 14th, 2021

Sosina Ayalew,1,2 Teklu Wegayehu,2 Hawult Taye,1 Liya Wassie,1 Selfu Girma,1 Stefan Berg,3 Adane Mihret1

1Armauer Hansen Research Institute, Addis Ababa, Ethiopia; 2Department of Biology, College of Natural Sciences, Arba Minch University (AMU), Arba Minch, Ethiopia; 3Bacteriology Department, Animal and Plant Health Agency, Weybridge, UK

Correspondence: Sosina Ayalew Tel +251 912166324Email

Background: Tuberculosis lymphadenitis (TBLN) is a growing public health concern in Ethiopia. However, there is limited information available on gene mutations conferring drug resistance and genetic diversity of M. tuberculosis isolates from TBLN patients.Methods: Drug resistance and genetic diversity analysis were done on 91 M. tuberculosis isolates from culture positive TBLN patients collected between 2016 and 2017. Detection of mutations conferring resistance was carried out using GenoType MTBDRplus VER 2.0. Thereafter, isolates were typed using spoligotyping.Results: Out of the 91 strains, mutations conferring resistance to rifampicin (RIF) and isoniazid (INH) were observed in two (2.2%) and six (6.6%) isolates, respectively. The two RIF resistant isolates displayed a mutation at codon 531 in the rpoB gene with amino acid change of S531L. Among the six INH resistant strains, four isolates had shown mutation at the KatG gene at codon 315 with amino acid change of S315T, one isolate had a mutation at the inhA gene at codon 15 with amino acid change of C15T and one isolate had a mutation at the inhA gene with unknown amino acid change. All drug resistant isolates were from treatment naive TBLN patients. The dominantly identified Spoligo International Types (SITs) were SIT25, SIT149, and SIT53, respectively; these accounted for 43% of the total number of strains. The isolates were grouped into four main lineages; Lineage 1 (2, 2.2%), Lineage 3 (38, 41.7%), Lineage 4 (49, 53.8%) and Lineage 7 (2, 2.2%). Four out of six (66.7%) isolates with drug resistance conferring mutations belonged to clustered strains (strains with shared SIT).Conclusion: The detection of drug resistant conferring mutation in treatment nave TBLN patients together with detection of drug resistant isolates among clustered strains might suggest resistant strains transmission in the community. This needs to be carefully considered to prevent the spread of drug resistant clones in the country.

Keywords: drug resistant, genetic diversity, mutation, tuberculosis lymphadenitis

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License.By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

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Drug Resistance Conferring Mutation and Genetic Diversity of Mycobacte | IDR - Dove Medical Press


Genetic Origins of Canine Hip Dysplasia Evaluated in Validation Study – Business Wire

Sunday, February 14th, 2021

VANCOUVER, Wash.--(BUSINESS WIRE)--Wisdom Health Genetics, the world leader in pet genetics and maker of the WISDOM PANEL dog DNA test, announced today the publication in BMC Genomics of a study conducted in partnership with the University of Helsinki.

The studyAn across-breed validation study of 46 genetic markers in canine hip dysplasiaconfirms that canine hip dysplasia has a complex genetic origin.

Canine hip dysplasia is a common, painful health condition that affects many different dog breeds. Hip dysplasia is believed to result from both environmental and genetic factors; however, its genetic background has largely remained a mystery.

There has been significant effort to uncover the genetic variants causing canine hip dysplasia, but validation and replication of the results have been difficult for a variety of reasons such as inadequate sample size or complex or inaccurate phenotypes, said Jonas Donner, Ph.D., Discovery Manager at Wisdom Health Genetics. For this study, we were able to leverage an extensive sample size, helping partially solve this validation issue and set us on a path for future discoveries related to canine hip dysplasia.

Researchers at University of Helsinki and Wisdom Health Genetics examined genetic samples from a cohort of more than 1600 dogs across ten different breeds. The study validated more than 20 previously-identified genetic regions across 14 chromosomes associated with canine hip dysplasia; while 20 of the loci were associated with specific breeds, one locus was associated across all ten breeds in the study.

According to Lea Mikkola, who conducted this research as part of her PhD dissertation, this study is one of the most extensive pieces of research into the relationship between DNA and hip dysplasia to date.

Overall, these results indicate that canine hip dysplasia has a complex genetic architecture. Many genes contribute, and those genes are different in different breeds, explains Mikkola.

Additional examination of the loci validated in the study will be essential in helping scientists and veterinarians alike understand the genetic pathways contributing to this debilitating condition.

It is critical to look further into these validated loci in the future to find out the actual causal genes and variants, said Professors Antti Iivanainen and Hannes Lohi, leaders of the research at the University of Helsinki, in the Universitys news release about the hip dysplasia study. It is not an easy task but could reveal insights into disease mechanisms and guide towards better care and treatment of this detrimental condition.

The researchers recommend future validation studies to further understand the complex genetic causes of canine hip dysplasia, especially examinations within both specific and disparate breeds, and across various geographical regions. Additional studies to identify causal genetic variants can also help shed light on the molecular causes of the canine hip dysplasia and direct future diagnostic and treatment options.

About the canine hip dysplasia study:

About Wisdom Health GeneticsThe mission of the Wisdom Health business, a division of Kinship Partners, Inc, is to strengthen the bond between pets and their people through world-leading insights powered by DNA. Wisdom Panel dog DNA testsbacked by WISDOM HEALTH scientific researchcan help pet parents plan better, care smarter, and love longer. For more than a decade, Wisdom Health scientific research has contributed to state-of-the-art genetic tests for companion animals, revolutionizing personalized pet care. By unlocking the secrets of their dog or cat's DNA, pet parents and veterinarians can work together to tailor wellness programs that fit the one-of-a-kind needs of their pets. More than 7,000 veterinarians worldwide recommend and offer Wisdom Panel products. For more information, visit, and follow the Wisdom Panel brand on Facebook and Instagram.

About Kinship Partners, IncKinship is here to help everyone pet parent like a pro. Why? Because our pets make us better humans, and we owe them the best possible care. As allies to pet parents learning on the job, we use our data, products, and services to help people be the best pet parents they can be. We unite changemakers in pet care to break down barriers, open new doors, share insights, and advance our collective knowledge. By reimagining the pet parenting experience and upping peoples confidence, were helping the world find better ways to care.

Our coalition includes our world-leading Wisdom Panel genetic health screening and DNA testing for dogs, the award-winning Whistle GPS dog tracker and health monitor, Pet Insight Project, our ground-breaking science stream that uses AI to turn billions of data points into actionable insights, and partnerships like our Leap Venture Studio accelerator that supports innovators and start-ups, to bring new solutions to pet parents. Kinship is a division of Mars Petcare. Learn more at

About Mars PetcarePart of Mars, Incorporateda family-owned business with more than a century of history-making diverse products and offering services for people and the pets people lovethe 85,000 Associates across 50+ countries in Mars Petcare are dedicated to one purpose: A BETTER WORLD FOR PETS. With 85 years of experience, our portfolio of almost 50 brands serves the health and nutrition needs of the worlds petsincluding brands PEDIGREE, WHISKAS, ROYAL CANIN, NUTRO, GREENIES, SHEBA, CESAR, IAMS, and EUKANUBA, as well as the Waltham Petcare Science Institute, which has advanced research in the nutrition and health of pets for over 50 years. Mars Petcare is also a leading veterinary health provider through an international network of over 2,000 pet hospitals and diagnostic services including BANFIELD, BLUEPEARL, VCA, Linnaeus, AniCura, and Antech. Were also active in innovation and technology for pets, with Wisdom Panel genetic health screening and DNA testing for dogs, the WHISTLE GPS dog tracker, LEAP VENTURE STUDIO accelerator, and COMPANION FUND programs that drive innovation and disruption in the pet care industry. As a family business guided by our principles, we are privileged with the flexibility to fight for what we believe inand we choose to fight for our purpose: A BETTER WORLD FOR PETS.

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Genetic Origins of Canine Hip Dysplasia Evaluated in Validation Study - Business Wire


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