Category Archives: Genetics

It was a perfect storm: How 13 rabbits caused the largest biological invasion in history – EL PAS USA

On Christmas Eve, 1859, 24 rabbits arrived at Thomas Austins hunting estate near Sydney in eastern Australia. Just two months earlier, his brother William Austin had sent him 13 rabbits from southern England. Three years later, the local press reported that there were already thousands of European leporids in the country. Thomas himself acknowledged that he had slaughtered 20,000 of the animals on his property. By 1906, the rabbits had reached Australias west coast, 4,000 kilometers (about 2,485 miles) away from Thomas Austins property. Now, a genetic study confirms that the Austin brothers rabbits started the largest biological invasion ever recorded.

The contemporary press and history books note the Austins culpability in the disaster. Even Williams granddaughter, Joan Palmer, tells her version of the story in her memoirs. But many scientists and historians acknowledge that its more complicated than that: the English settled in Australia in 1788, when the ships of the First Fleet arrived on a mission for the British crown to turn the huge island into a penal colony. Five rabbits were aboard one of the ships that made the voyage. Records show that there were another 90 shipments of rabbits over the next 70 years. Some of the animals escaped or were released deliberately, but none of them caused a biological invasion. The proliferation of wild rabbits has damaged Australian ecosystems and cornered marsupials; rabbits are the continents main agricultural pests. For over a century and a half, Australians have tried everything to stop the invasion, from rifles and fences, to ferrets and phosphorus poisons, to viruses and bacteria. So, what happened on Christmas Eve in 1859?

A group of British, Portuguese and Australian researchers have used genetics to confirm the Austin brothers responsibility for the disaster. The scientists analyzed the genes of almost 200 rabbits from Spain (the common rabbits place of origin), France (where the animals were domesticated during the Middle Ages), England, Australia and two other countries that also suffered the scourge: neighboring New Zealand and Tasmania. Several specimens come from a few years after the invasion began. This data allowed the scientists to create a genetic tree to study how the rabbits proliferation occurred. The researchers published their findings in the scientific journal PNAS (Proceedings of the National Academy of Sciences of the United States of America).

Their wild ancestry probably gave these rabbits an advantage, as they were better adapted to the harsh Australian landscape

Joel Alves, a researcher at the University of Oxford and the Research Center for Biodiversity and Genetic Resources in Portugal, and the studys lead author, explains what they hoped to find by recreating the rabbit gene tree: We looked for a combination of different genetic markers that we expect when populations expand. Importantly, they saw that almost all Australian rabbits are closely related, despite being separated by thousands of kilometers. Something like that would not have been possible if there had been other successful introductions, notes Alves. He adds that the further away the rabbit populations are from Victoria [the state where the invasion originated], the less genetic diversity they have. This is to be expected from a large significant expansion from a single place, because genetic diversity erodes as individuals expand rapidly. Biologists call this the founder effect.

Analysis of mitochondrial DNA, which is inherited exclusively through the maternal line, has allowed the researchers to estimate the number of females behind the proliferation of hundreds of millions of Australian rabbits: William sent only five females to Thomas. Genetics has also helped the scientists confirm the rabbits geographical origin. On the European branches of the genetic tree, the Australian rabbits are closest to the ones connected to the United Kingdoms southwest, where William Austins land was located. But what was so special about the Austin rabbits as compared to the ones that arrived in Australia earlier?

We have historical and genetic evidence that most of the previous introductions were domestic rabbits. Austins are the only ones explicitly described as wild and captured in a natural environment, which we have confirmed genetically, says Alves. One piece of historical proof is the memoir of Joan Palmer, William Austins granddaughter. She recalls that Thomas asked William to send him a dozen wild rabbits to release on his hunting grounds. The emigrant belonged to one of the acclimatization societies that sprang up in the 19th century. These associations imported species from their homelands to introduce them into the colonies, out of both longing and economic interests. But that had dire consequences in the many ecosystems exposed simultaneously to the actions of white settlers and invasive species. In the Austins case, William captured only six wild rabbits and bought another seven from neighbors who had trapped the animals as young and then domesticated them. The rabbits had to interbreed during the journey to match the 24 animals that appear in the historical records.

Alves explains their wild ancestry probably gave these rabbits an advantage, because they were better adapted to the harsh Australian landscape. In addition to their gray to brownish coloration, which is ideal for camouflage in the dry, semi-arid terrain, the wild rabbits retained their flight response to danger. Domestic rabbits are an easier target for predators because they have lost that reaction and are more docile and more strikingly colored.

In Australia rabbits have evolved with changes in body shape to help regulate their temperature

Francis Jiggins, a professor of genetics at the University of Cambridge and a senior author of the study, notes that there are numerous traits that could make domestic rabbits of wild origin poorly adapted for survival in the wild, but it is possible that they lacked the genetic variation needed to adapt to Australias arid and semi-arid climate. He concludes that to cope with this [environment], Thomas Austins wild rabbits and their offspring had a genetic advantage in adapting to these conditions.

Martn Nuez, a researcher at the University of Houston and an expert in invasion ecology, says that the investigations results are compelling, although they are at odds with previous research that finds rabbits spread throughout Australia from different places at different times. [Determining] why some species invade and others dont is invasion biologys holy grail. Weve been trying to find that out for decades. This study didnt find the holy grail, but it provides information about the processes through which it can happen, he explains. Nuez notes that the research shows that its not so much about the species, but about a population of potentially pre-adapted individuals. This work also demonstrates that the view of rabbits as a highly invasive species, at least outside of Europe, is wrong, since here it is very clear that a given population at a specific time was responsible [for the biological invasion], while other populations had much more limited success.

Alves acknowledges that genetics are not the only explanation for the invasion: It is likely that changes in the environment also played a role when the Austin rabbits arrived. Australia in 1788 was very different from Australia in 1859; by the mid-19th century, the country had extensive grazing land that could feed rabbits, and herders killed fewer predators. So, it was the perfect storm; the right rabbits were in the right place at the right time.

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It was a perfect storm: How 13 rabbits caused the largest biological invasion in history - EL PAS USA

Invitae Appointed to National Quality Forum Committee on Quality Standards for Healthcare – PR Newswire

First genetics testing company to sit on Forum

Genetics perspective on committee will accelerate healthcare quality standards aligning with medical and technological advancements

SAN FRANCISCO, Sept. 27, 2022 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, today announced the company has received a three-year appointment to a National Quality Forum (NQF) committee that provides input on recommendations for quality standards that impact how healthcare is delivered. Invitae is the first genetics testing company to join the Measure Applications Partnership (MAP) Clinician workgroup committee, representing a critical step in making genetics the standard of care in mainstream medicine and potentially improving healthcare for billions.

The MAP Clinician workgroup is a multi-stakeholder partnership with organizations such as health plans and provider organizations tasked with providing recommendations to the U.S. Department of Health and Human Services on the selection and removal of performance measures for federal public reporting, performance-based payment and other health programs.

"The selection of Invitae to the MAP Clinician workgroup indicates the National Quality Forum is prioritizing genomics for their work in setting standards for quality healthcare. I am glad to see NQF playing an active role to help incentivize this progress of medicine and applaud their choice of Invitae. I look forward to Invitae's contributions in this partnership," said Christine Cassel, MD, former NQF president and CEO and former planning dean for Kaiser Permanente's School of Medicine.

The MAP Clinician workgroup plays an important role for NQF's evaluation and endorsement process for implementation of standardized healthcare performance measures. Both public and private payers use measures for a variety of accountability purposes, including public reporting and performance-based payment programs. Measures are an essential part of making the quality and cost of healthcare more transparent to all, which is important for those who receive care or make care decisions for loved ones. Use of standardized healthcare performance measures allows for comparison across clinicians, hospitals, health plans and other providers.

"We believe healthcare quality, equity and patient safety cannot be addressed without the recognition that genetics plays a critical role. With this consideration, quality standards can help providers and health plans keep up with the evidence, clinical guidelines and advancement of medicine," said Chantelle Schenning, PhD, MHA, head of healthcare transformation at Invitae. "NQF's decision to invite our voice to represent the genetics perspective and expertise creates a more balanced, diverse stakeholder group that better aligns with advancements in clinical care seen in the outpatient setting today."

Each year, millions of people are screened for or diagnosed with diseases for which their genetic information can be clinically actionable for them and their families. As genetic information becomes increasingly important in driving healthcare decision-making and outcomes, quality standards should reflect and encourage the relevant use of genetics in clinical practice to help treat and prevent disease. If incorporated appropriately, the inclusion of genetics in quality measures could reduce (rather than widen) existing disparities in patient outcomes in cancer, cardiovascular disease, pediatrics and many others.

About the National Quality ForumThe National Quality Forum (NQF) works with members of the healthcare community to drive measurable health improvements together. NQF is a not-for-profit, membership-based organization that gives all healthcare stakeholders a voice in advancing quality measures and improvement strategies that lead to better outcomes and greater value. Learn more at http://www.qualityforum.org.

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 at invitae.com.

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 company's beliefs regarding its appointment to the NQF committee, including that it will accelerate healthcare quality standards aligning with medical and technological advancements and that it represents a critical step in making genetics the standard of care in mainstream medicine and potentially improving healthcare for billions; and the company's belief that the inclusion of genetics in quality measures could reduce existing disparities in patient outcomes in many diseases. 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 June 30, 2022. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Renee Kelley[emailprotected](628) 213-3283

SOURCE Invitae Corporation

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Invitae Appointed to National Quality Forum Committee on Quality Standards for Healthcare - PR Newswire

Explainer: The Basics of DNA and Genetic Systems – Visual Capitalist

A Newfound Link Between Cancer and Aging?

A new study in 2022 reveals a thought-provoking relationship between how long animals live and how quickly their genetic codes mutate.

Cancer is a product of time and mutations, and so researchers investigated its onset and impact within 16 unique mammals. A new perspective on DNA mutation broadens our understanding of aging and cancer developmentand how we might be able to control it.

Cancer is the uncontrolled growth of cells. It is not a pathogen that infects the body, but a normal body process gone wrong.

Cells divide and multiply in our bodies all the time. Sometimes, during DNA replication, tiny mistakes (called mutations) appear randomly within the genetic code. Our bodies have mechanisms to correct these errors, and for much of our youth we remain strong and healthy as a result of these corrective measures.

However, these protections weaken as we age. Developing cancer becomes more likely as mutations slip past our defenses and continue to multiply. The longer we live, the more mutations we carry, and the likelihood of them manifesting into cancer increases.

Since mutations can occur randomly, biologists expect larger lifeforms (those with more cells) to have greater chances of developing cancer than smaller lifeforms.

Strangely, no association exists.

It is one of biologys biggest mysteries as to why massive creatures like whales or elephants rarely seem to experience cancer. This is called Petos Paradox. Even stranger: some smaller creatures, like the naked mole rat, are completely resistant to cancer.

This phenomenon motivates researchers to look into the genetics of naked mole rats and whales. And while weve discovered that special genetic bonuses (like extra tumor-suppressing genes) benefit these creatures, a pattern for cancer rates across all other species is still poorly understood.

Researchers at the Wellcome Sanger Institute report the first study to look at how mutation rates compare with animal lifespans.

Mutation rates are simply the speed at which species beget mutations. Mammals with shorter lifespans have average mutation rates that are very fast. A mouse undergoes nearly 800 mutations in each of its four short years on Earth. Mammals with longer lifespans have average mutation rates that are much slower. In humans (average lifespan of roughly 84 years), it comes to fewer than 50 mutations per year.

The study also compares the number of mutations at time of death with other traits, like body mass and lifespan. For example, a giraffe has roughly 40,000 times more cells than a mouse. Or a human lives 90 times longer than a mouse. What surprised researchers was that the number of mutations at time of death differed only by a factor of three.

Such small differentiation suggests there may be a total number of mutations a species can collect before it dies. Since the mammals reached this number at different speeds, finding ways to control the rate of mutations may help stall cancer development, set back aging, and prolong life.

The findings in this study ignite new questions for understanding cancer.

Confirming that mutation rate and lifespan are strongly correlated needs comparison to lifeforms beyond mammals, like fishes, birds, and even plants.

It will also be necessary to understand what factors control mutation rates. The answer to this likely lies within the complexities of DNA. Geneticists and oncologists are continuing to investigate genetic curiosities like tumor-suppressing genes and how they might impact mutation rates.

Aging is likely to be a confluence of many issues, like epigenetic changes or telomere shortening, but if mutations are involved then there may be hopes of slowing genetic damageor even reversing it.

While just a first step, linking mutation rates to lifespan is a reframing of our understanding of cancer development, and it may open doors to new strategies and therapies for treating cancer or taming the number of health-related concerns that come with aging.

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Explainer: The Basics of DNA and Genetic Systems - Visual Capitalist

Purrsonalised health: The startups and VCs betting on pet genetics – Sifted

Direct-to-consumer home genetic kits allowed startups like 23andMe to offer health and ancestry insights at an affordable cost. Now, similar tech is coming to pets.

Itll help vets, breeders and pet parents to verify parentage and breed, diagnose diseases and plan for future health risks.

Everything we have seen happening in humans, in terms of predictive and personalised medicine and genetics-based diagnostics, has migrated into the pet space, says Sergey Jakimov, founding partner of LongeVC, a European VC fund that focuses on early-stage biotech and longevity. This is super exciting because pets, as living beings, have equalised themselves in importance in terms of how much money and attention is spent on their longevity, and in disease diagnostics and prevention.

Its not the first time human health innovation has come to the animal world US-based Signal Pet, for example, provides artificial intelligence-based radiology but animal genetics could be big business.

Animal genetics market revenue is predicted to exceed $6.4bn by 2027, up from $99m in 2020. Sifted dug into the sector and found the startups to watch and the VCs watching them.

Feragen, an Austria-based pet genetics startup, sees the vet sector as a growth engine for its business. It wants to move from diagnostics, where such tools are common, into disease prevention.

Puppies are more like family members

We want to push the prevention angle. What can we learn from genetics to create a life plan for a dog? says Anja Geretschlger, founder and CEO. Pet parents are becoming more interested in understanding the risk of diseases that might come when the pet is five or six, so they are more prepared when the symptoms show up.

Michael Geretschlger, Anjas husband and collaborator, says preventive health is getting more [attention] as puppies are more like family members. Anja Geretschlger adds that genetic insights are valuable for breeders in the era of designer dogs.

This is because cross-breeding can lead to health complications, such as labradoodles developing skin problems due to different fur structures between labradors and poodles.

Another European player is Germany-based Generatio, which provides genetic testing for animal owners, vets and breeders.

Theres also UK-based AffinityDNA, acquired in May by Australian diagnostics company Genetic Technologies, which provides animal testing for allergies and intolerances, paternity testing and direct-to-consumer (DTC) genetic tests from companies like Embark, Wisdom Panel and BasePaws.

Genetic Technologies portfolio includes General Genetics Corporation and associated brand EasyDNA, which offers UK pet owners breed composition tests, disease susceptibility tests for dogs, and feline and equine offerings.

European VCs are also interested in startups across the pond. Garri Zmudze, a Latvian biotech angel investor and founder of Switzerland-based LongeVC, investedin Basepaws, the American cat genetics company recently acquired by Zoetis, an animal medicines and vaccinations company.

Basepaws plans to expand into the veterinary portfolio of genetic, oral and microbiome screening tools for disease risk, screening 64 feline health markers and over 210 canine health markers.

For some, the pet genetics space is not just a play on the pet market but could inform human health and longevity science. Some diseases are rare in humans but are common in certain breeds of pets, who are useful for studies into genetic disease origins.

There is a tight connection between humans and animals and we can learn from both, says Anja Geretschlger.

Zmudzes investment in Basepaws, for instance, was not a pet consumer market bet at all. Instead it was aligned with his interest in human longevity, given the genetic overlaps between animals and humans in diseases like cancer and some neurodegenerative conditions.

There is a tight connection between humans and animals and we can learn from both

These overlaps are the reason we have animal models in clinical trials, because the metabolic processes are translatable, says Jakimov. There are tonnes of matches.

Matt Kaeberlein, professor of laboratory medicine and pathology at the University of Washington School of Medicine and head of the dog ageing project, a world-leading biological study of ageing in dogs, sits on the LongeVC advisory board, alongside executives from European pharmaceutical giants Roche and Novartis. And Zmudze was also an investor in Insilico Medicine, an AI drug discovery unicorn.

As home to many of the worlds top pharmaceutical companies, Europe could be a major player in longevity research. Switzerland is developing a Longevity Valley initiative, Bristol Myers Squibb and Merck are major investors in cancer immunotherapies and the pharma industry is investing in early stage longevity companies like senescent cells companies, through initiatives like Mercks early stage venture arm.

Pharmaceutical companies live in the future, they live in 10 to 20 year cycles, says Jakimov. They are super focused on the longevity sector.

This article first appeared in our monthly Unleashed pet tech newsletter, a collaboration with Purina Accelerator Lab. All content is editorially independent.Sign upto our newsletter here to keep up to date with the latest goings on in the European pet tech industry.

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Purrsonalised health: The startups and VCs betting on pet genetics - Sifted

Preimplantation Genetic Testing Market: Growing Demand for Genetically Testing and Rising Knowledge of Genetics to Drive the Market – BioSpace

Wilmington, Delaware, United States, Transparency Market Research Inc. The preimplantation genetic testing is an increasingly go-to option for identifying genetic birth effects in children. The technique relies on the use of vitro fertilization before pregnancy. The technique is highly recommended in clinical practices especially in cases wherein both parents have a genetic defect. The tests are performed on an embryo to determine various genetic associations or factors. The PGD or preimplantation genetic diagnosis is the medium to avail this test.

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On the other hand, PGS or presumed genetic screening refers to techniques are applied for the screening of genetically sound parents. The technique is used to screen aneuploidy. The growing demand for genetically testing and rising knowledge of genetics, thanks to big data and AI technology is a promising driver for growth of the preimplantation genetic testing market.

Preimplantation Genetic Testing Market: Notable Developments

In 2018, twin girls in China were conceived using embryos that were specifically designed with the method of gene altering. In 2019, a 74 year Indian women gave birth to first-time twins. It is estimated that nearly 12% of the overall couples are infertile.

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Additionally, thanks to rising financial stress, and compatibility issues, women tend to conceive a far later in lifecycle. The growth of couples opting for reproductive technologies in Denmark stands at near 7% of all couples. The new technologies made available due to preimplantation genetic testing is expected to witness robust future as economies of scale drive down costs.

HelpCureHD, an organization has helped 24 families with Huntingtons disease to conceive healthy. The family-supported organization paid for the treatment of 24 families who were diagnosed with huntingtons disease. This is important to take note of as reproduction remains a key family concern and is likely to drive growth from charities. However, the costs of preimplantation genetic testing remain high and pose a major barrier to growth.

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Preimplantation Genetic Testing Market: Drivers and Restraints

The rising advent of medical knowledge and growth of technologically advanced genetic devices are expected to result in considerable growth for the preimplantation genetic testing market. Additionally, positive response from several regulatory authorities to genetic testing and possible opportunities for conceving healthier children are expected to be major opportunities. Additionally, more tech companies are also expected to invest in testing.

Recently, Facebook announced its desire to pay women more to conceive later as many women opted out of their jobs to take care of their families. The growing need for women to seek a balance between family and career, and growing tendency towards opting for family are expected to drive investment from the tech sector wherein salaries are extremely high and replacing labor can be far more costly.

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Preimplantation Genetic Testing Market: Geographical Analysis

The preimplantation genetic testing market is expected to witness major growth in North America region. The growing choice of women towards conceiving later, growing reliance on technology to identify pre-birth conditions, and expected cutting down costs due to scales of economy are expected to drive major growth in region.

Additionally, the preimplantation genetic testing market is expected to drive considerable growth in Asia Pacific region. The region is home to a rising disposable income, and growing access to healthcare. Additionally, large investment in big data and Artificial Intelligence technology by countries like Japan and China are expected to remain major drivers for growth.

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Preimplantation Genetic Testing Market: Growing Demand for Genetically Testing and Rising Knowledge of Genetics to Drive the Market - BioSpace

Uncovering the Genetic Basis of Mental Illness Requires Data and Tools That Aren’t Just Based on White People – San Diego Voice and Viewpoint

By Hailiang Huang, Harvard University

Mental illness is a growing public health problem. In 2019, an estimated1 in 8 people around the worldwere affected by mental disorders like depression, schizophrenia or bipolar disorder. While scientists have long known that many of these disorders run in families, their genetic basis isnt entirely clear. One reason why is that the majority of existing genetic data used in research is overwhelmingly from white people.

In 2003, the Human Genome Project generated the first reference genome of human DNA from a combination of samples donated by upstate New Yorkers, all of whom were of European ancestry. Researchers across many biomedical fields still use this reference genome in their work. But it doesnt provide a complete picture of human genetics. Someone with a different genetic ancestry will have a number ofvariationsin their DNA that arent captured by the reference sequence.

When most of the worlds ancestries are not represented in genomic data sets, studies wont be able to provide a true representation of how diseases manifest across all of humanity. Despite this, ancestral diversity in genetic analyses hasnt improved in the two decades since the Human Genome Project announced its first results. As of June 2021,over 80%of genetic studies have been conducted on people of European descent. Less than 2% have included people of African descent, even though these individuals have the most genetic variation of all human populations.

To uncover thegenetic factorsdriving mental illness,I, Sinad Chapman and our colleagues at the Broad Institute of MIT and Harvard have partnered with collaborators around the world to launch Stanley Global, an initiative that seeks to collect a more diverse range of genetic samples from beyond the U.S. and Northern Europe, and train the next generation of researchers around the world. Not only does the genetic data lack diversity, but so do the tools and techniques scientists use to sequence and analyze human genomes. So we are implementing a new sequencing technology that addresses the inadequacies of previous approaches that dont account for the genetic diversity of global populations.

To study the genetics of psychiatric conditions, researchers use data fromgenome-wide association studiesthat compare the genetic variations between people with and without a particular disease. However, these data sets are mostlybased on people of European ancestry, largely because research infrastructure and funding for large-scale genetics studies, and the scientists conducting these studies, have historically been concentrated in Europe and the United States.

One way to close this gap is to sequence genetic data from diverse populations. My colleagues and I are working in close partnership with geneticists, statisticians and epidemiologists in 14 countries across four continents to study the DNA of tens of thousands of people of African, Asian and Latino ancestries who are affected by mental illness. We work together to recruit participants and collect DNA samples that are sequenced at the Broad Institute in Massachusetts and shared with all partners for analysis.

Prioritizing the voices and priorities of local communities and scientists is foundational to our work. All partners have joint ownership of the project, including decision-making and sample and data ownership and control. To do this, we build relationships and trust with the local communities we are studying and the local university leaders and scientists with whom we are partnering. We work to understand local cultures and practices, and adapt our collection methods to ensure study participants are comfortable. For example, because there are different cultural sensitivities around providing saliva and blood samples, we have adapted our practices by location to ensure study participants are comfortable.

We also freely share knowledge and materials with our partners. There is a two-way exchange of information between the Broad Institute and local teams on study progress and results, enabling continual learning, teaching and unity between teams. We strive to meet each other where we are by exchanging practices and training scientists to support the development of locally grown and locally led research programs.

Our collaboration with African research groups provides a prime example ofour model. For example, our African research colleagues are co-leaders on the grants that fund the lab equipment, scientists and other staff for projects based at their study sites. And we help to support the next generation of African geneticists and bioinformaticians through adedicated training program.

Collecting samples from more diverse populations is only half of the challenge.

Existing genomic sequencing and analysis technologies do not adequately capture genetic variation across populations from around the world. Thats because these technologies were designed to detect genetic variations based on reference DNA from people of European ancestry, and they reduce accuracy when analyzing sequences that arent derived from the reference genome. When these tools are applied to genetic data from other populations, they fail to detect much of the rich variation in their genomes. This can lead researchers to miss out on important biomedical discoveries.

To address this issue, we developed an approach to genome sequencing that can detect more genetic variation from populations around the world. It works by sequencing theexome the less than 2% of the genome that codes for proteins in high detail, as well as sequencing the 98% of the genome that does not code for proteins in less detail.

This combined approach reduces the trade-offs geneticists often have to make in sequencing projects. High-depth whole genome sequencing, which reads through the entire genome multiple times to get detailed data, is too costly to do on a large number of DNA samples. While low-coverage sequencing reduces costs by reading smaller segments of the genome, it may miss some important genetic variation. With our new technology, geneticists can get the best of both worlds:sequencing the exome in depthmaximizes the likelihood of pinpointing specific genes that play a role in mental illness, while sequencing the whole genome less in depth allows researchers to process large numbers of whole genomes more cost-effectively.

Our hope is that this new technology will allow researchers to sequence large sample sizes from a diverse range of ancestries to capture the full breadth of genetic variation. With a better understanding of the genetics of mental illness, clinicians and researchers will be better equipped to develop new treatments that work for everyone.

Genomic sequencing opened a new era ofpersonalized medicine, which promises to deliver treatments tailored to each individual person. This can be done only if the genetic variations of all ancestries are represented in the data sets that researchers use to make new discoveries about disease and develop treatments.

This article is republished fromThe Conversationunder a Creative Commons license.

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Uncovering the Genetic Basis of Mental Illness Requires Data and Tools That Aren't Just Based on White People - San Diego Voice and Viewpoint

CHOPs new bird-proofed skyscraper will focus on vaccine and genetics research – The Philadelphia Inquirer

Childrens Hospital of Philadelphia is growing its footprint on the east side of the Schuylkill, adding a second high rise next to the 20-story Roberts Center for Pediatric Research.

At 14 stories, the new Schuylkill Avenue Research Building will provide a complement to the existing tower by offering a distinct form of research space. CHOP is searching for a sponsor to christen the structure, as the Roberts family of Comcast fame did for its neighbor.

The new building will add 250,000 square feet of wet lab space, a term for laboratories used to research biological or chemical subjects. Across its real estate holdings, CHOP already provides 800,000 square feet of wet lab space, but the Roberts Center is focused on administrative and meeting space as well as dry labs that are more focused on patient trials and computational or policy work.

At this campus we will be looking at opportunities for new cell and gene therapies and ways to develop vaccines or target the immune system to promote health, said Sue Furth, CHOPs chief scientific officer. Itll be a next-generation research campus totally dedicated to improving the health of children. Philadelphia is really up and coming in this area, just after Boston.

The building comes as Philadelphia is making big bets on the life sciences, an employment sector that has proven more resilient to the growing trend of work-from-home than traditional office space during the pandemic. Biomedical and pharmaceutical work cannot be done from home, and the market has been growing in University City, the Navy Yard, King of Prussia, and even downtown.

READ MORE: Philadelphias glass skyline is killing birds. A new Fairmount Park building has a solution. | Inga Saffron

CHOP believes this new work setup will continue to result in fewer workers in its buildings at any given time, as evidenced by the fact that the Schuylkill Avenue Research Building will not include any new parking. There are already 404 parking spaces on site and that is believed to be sufficient even after the new structure is completed. CHOP did not offer the precise number of workers it expects to be based out of the new building.

The density of research is not the same as an administrative building, said Donald Moore, CHOPs senior vice president for real estate, facilities and operations. It will be less intense than what we have at the Roberts Center right now [in terms of the number of people coming to the building].

The building will include 33,000 square feet of office space and 6,500 square feet of retail space, with an eatery or cafe planned with an entrance near the South Street Bridge. The Roberts building currently hosts an establishment called the Waterfront Cafe that is open to the public, but CHOP acknowledges that its existence is little known to those who dont work for the institution.

They hope the new cafe, which will be visible from the street, will prove a boon to the public, add more amenities to the surrounding residential area, and provide a space for collaboration for CHOP workers.

If you consider the dearth of food service amenities in this particular community, and the amount of foot traffic that goes past our site on a daily basis, it should be a very attractive offering for someone, said Moore.

The plan for the new structure was created by the international architecture firm Cannon Design and it won plaudits when presented to Philadelphias Civic Design Review board, a municipally appointed team of architects and planners who review large real estate developments.

The Schuylkill Avenue Research Building will look similar to the Roberts Center, but with darker materials and lighting. The designers drew from lessons learned from the previous building about the toll that glassy skyscrapers can take on avian life. Ornithologists believe that between 350 million and a billion birds die each year in the United States because the reflective glass confuses them, and they fly into the buildings at top speed.

READ MORE: From 2020: Up to 1,500 birds flew into some of Phillys tallest skyscrapers one day last week. The slaughter shook bird-watchers.

Weve taken a lot of time and effort to try and address the fact that many of the high rises along the Schuylkill River migratory bird path are magnets for migrating birds, said John Roach, office engineering leader with Cannon Design. In our cladding choices and brick patterns, weve tried to take proven measures to help reduce the incidence of bird strikes here.

Hurricane Ida also offered a lesson to CHOP, as last years flooding created elevator and parking issues at the Roberts Center. Although Moore couldnt provide immediate details, he said the institution will be convening an expert panel this week to discuss how to protect the new building from 100-year flood events that are expected to be ever more frequent.

The general plan for further construction on the site has been anticipated for some time. The foundation of the Schuylkill Avenue Research Building is already in place, which community groups cited as an example of CHOPs neighborliness construction is expected to be less disruptive because the site was prepared for a new building years in advance.

Unusually, for a building of this size next to a residential area, it has enjoyed a rapturous reception by near neighbors and community groups.

If the first one was a salt shaker, the latest is like a pepper shaker, they go so well together, said Murray Spencer, zoning chair for the South of South Neighborhood Association.

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CHOPs new bird-proofed skyscraper will focus on vaccine and genetics research - The Philadelphia Inquirer

Leading Clinical Experts Across the U.S. Unite to Support Universal Genetic Testing for all Patients with Cancer – PR Newswire

Clinicians agree that evidence supports testing benefits for all

SAN FRANCISCO, Sept. 15, 2022 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, joined other clinical experts in releasing a new commentary in Journal of Clinical Oncology Precision Oncology, underscoring the importance of universal germline testing for all patients with cancer (solid tumors). The paper reports a meta-analysis of multiple clinical publications supporting universal testing, independent of age, stage, family history or type of cancer. It reports that for cancer types such as pancreatic and ovarian where universal genetic testing is already recommended, 13% and 20% of patients (respectively) have identifiable actionable heritable gene mutations,2. In comparison, the actionable inherited gene mutation rate for patients with other cancer types is similar: breast 11%, endometrial 13%, prostate 14%, kidney 13%, bladder 14%, testicular 13%, colorectal 13%, liver 14%, and stomach 14%.

Furthermore, it reports that between 5-13% of patients with cancer with heritable gene mutations are missed by current restrictive testing guidelines and are unable to benefit from associated precision treatment and clinical trial benefits. First, allowing all patients to receive germline testing, without restrictive guidelines, affords patients access to precision therapies, clinical trials and other risk reducing interventions that can improve outcomes, and even extend overall patient survival1. Second, genetic testing informs surveillance and risk reduction for future cancers in patients already affected by cancer. Third, cascade testing helps alert their family members of an increased risk for cancer, so they too can then take advantage of monitoring and risk reducing interventions. Consistent with the Cancer Moonshot 2.0and the President's Cancer Panel report 2022, the expert consensus concludes that current evidence supports the implementation of universal germline genetic testing for all patients with cancer (solid tumors).

"This consensus from nationally recognized, cancer genetics clinical experts reinforces the current guidelines that universal genetic testing be offered in all patients with ovarian and pancreatic cancer and either be offered or considered in all patients with colorectal," said Ed Esplin, MD, PhD, FACMG, FACP, clinical geneticist at Invitae. "More importantly, this is a call to all guidelines committees, insurer medical policy makers and the President's Cancer Moonshot Cabinetto make universal genetic testing available to potentially reduce mortality and improve the lives of all patients with cancer."

The collaborative commentary included experts from the Carolina Urologic Research Center, City of Hope, Dana-Farber Cancer Institute, Mayo Clinicand Invitae.

"The PROCLAIM studydemonstratesthe clinical utility of universal germline genetic testing in patients with prostate cancer. Current NCCN guidelines precludesome prostate cancer patients from receiving germline testing, thus depriving these patients of the potential to receive precision-based therapies and specificclinical trial eligibility, whileperpetuating healthcare disparities among historically underrepresented populations. The PROCLAIM data supports universal genetic testing for prostate cancer patients. We should expeditiously eliminate barriers to gene-based precision therapies to optimize patient outcomes and accelerate equitable access to care," said Neal Shore, MD, urologist and medical director, Carolina Urologic Research Center.

Cancer is a leading cause of death worldwide, accounting for nearly 10 million deaths in 2020.

Worldwide, there were an estimated 18.1 million new cases of cancer in 2018, with one in four men and one in five women developing the disease. In addition, there were 43.8 million persons living with cancer in 2018 who were diagnosed within the last five years.

"The INTERCEPT study has shown the prevalence and clinical utility of germline genetic testing is virtually the same across 14 cancer types, even those cancers not traditionally considered hereditary. This data supports universal genetic testing not only for colorectal cancer, but patients with all cancer types, to potentially improve their treatment and future cancer prevention for them and their family members," said Jewel Samadder, MD, enterprise co-leader precision/individualized cancer medicine, Mayo Clinic Comprehensive Cancer Center.

Restrictive guidelines can lead to disparities in cancer care. Offering germline genetic testing to all patients with cancer at diagnosis may help reduce inequities in cancer care by expanding access for all patients to precision therapy or clinical treatment trials.

"The prevalence of pathogenic variants in cancer susceptibility genes for which there are management guidelines is similar among patients with all types of solid tumors, therefore, it does not makes sense that current guidelines only recommend germline genetic testing for all patients with ovarian, pancreatic, and recently, colorectal cancers. This information has the potential to affect the treatment of these individuals' current cancers. In addition, it has the potential to allow for the prevention or early detection of future cancers in both these patients and their family members," said Heather Hampel, MS, CGC, professor, Department of Medical Oncology & Therapeutics Research, City of Hope.

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 at invitae.com.

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 potential benefits of universal genetic testing for all patients with cancer; and that restrictive guidelines can lead to disparities in cancer care. 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 June 30, 2022. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Renee Kelley[emailprotected](628) 213-3283

SOURCE Invitae Corporation

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Leading Clinical Experts Across the U.S. Unite to Support Universal Genetic Testing for all Patients with Cancer - PR Newswire

1910 Genetics Appoints Desney Tan from Microsoft to Board of Directors – Business Wire

BOSTON--(BUSINESS WIRE)--1910 Genetics, a biotechnology company integrating artificial intelligence (AI), computation and biological automation to improve drug development, today announced that it has appointed Desney Tan, Vice President and Managing Director of Microsoft Health Futures, to the companys Board of Directors. With experience in artificial intelligence, machine learning and genomics, Tan brings the board a unique perspective on the benefits and opportunities of combining biomedical technologies with life sciences.

It is rare to find a board member who has direct experience and success in bringing together biomedical technologies, such as artificial intelligence and machine learning, with life sciences to help solve healthcares biggest issues, said Jen Nwankwo, Ph.D., 1910 Genetics Founder and Chief Executive Officer. Desneys experience, not only with Microsoft, but with advising startups and as an angel investor, brings an indispensable viewpoint to our board and the extended team. I am looking forward to the breadth of experience he is bringing to our board.

Tan has been a part of Microsoft for almost two decades, leading multiple global teams, including the human-computer interaction group, the medical devices group and Microsoft Healthcare. As the leader of Microsoft Health Futures, he is responsible for the companys cross-organizational health and life sciences moonshot factory. The Microsoft Health Futures portfolio includes programs in biomedical technologies, life sciences, as well as multiple application areas, such as population health and global health access.

In addition to his role at Microsoft, Tan holds an affiliate faculty appointment in the department of computer science and engineering at the University of Washington. He also serves on the Board of Directors for ResMed, a pioneer in life-changing products and solutions that help people breathe and sleep better, and advises several startup companies.

Tan was named one of MIT Technology Reviews 2007 Young Innovators Under 35 for his work on brain-computer interfaces and a 2012-2014 Kavli Fellow by the U.S. National Academy of Sciences. He was also honored as one of SciFi Channels Young Visionaries at TED 2009, as well as Forbes Revolutionaries: Radical Thinkers and their World-Changing Ideas for his work on whole body computing.

1910 Genetics represents the natural convergence of technical and scientific disciplines that could transform drug discovery and development, Tan said. Ultimately, this could facilitate better care for everyone, including people who are currently underserved by the healthcare system. I can think of no greater way for technology to catalyze positive human impact.

Tan holds a Ph.D. in computer science from Carnegie Mellon University and a Bachelor of Science in computer engineering from the University of Notre Dame. He served as technical program chair for The ACM CHI Conference on Human Factors in Computing Systems in 2008, as well as general chair for CHI 2011. He sits on multiple journal editorial boards and was previously editor-in-chief for Foundations and Trends in HCI, as well as the Springer HCI Series. He also served as a lieutenant in the Singapore Armed Services, where he was awarded a Sword of Merit.

About 1910 Genetics

1910 Genetics integrates AI, computation and biological automation to accelerate the design of small molecule and protein therapeutics. The company blends AI-driven drug design with biological wet lab automation to increase productivity and decrease failure rates across the pharmaceutical R&D process. Using its multi-platform drug discovery engines - ELVIS and ROSALYND - 1910 Genetics can generate more novel drug candidates, shorten the timeline, cut operational costs and increase the probability of success compared to traditional pharmaceutical methods. 1910 Genetics therapeutic area-agnostic, end-to-end technology powers the full length of early drug discovery - from novel hit discovery to hit to lead, and lead optimization. 1910 Genetics is currently applying its technology to drug discovery programs in several areas including, but not limited to, neuroscience, oncology, immunology and infectious diseases. The company was founded in 2018 and is headquartered in Boston, Massachusetts. To learn more about 1910 Genetics, visit http://www.1910genetics.com.

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1910 Genetics Appoints Desney Tan from Microsoft to Board of Directors - Business Wire

New Study Reveals First Genetic Links in ME and Chronic Fatigue Syndrome Paving the Way for New Diagnostics and Drugs – PharmiWeb.com

PrecisionLife Reports 14 Genes Associated with ME/CFS at the M.E. Genetics Research Summit in Edinburgh

OXFORD, UK, September 14, 2022 PrecisionLife, a pioneering techbio company generating the deepest insights into disease biology to create novel precision medicines for chronic diseases, today unveiled the results of its study that provides the first detailed genetic insights into the pathophysiological mechanisms underpinning Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). This is the first time that replicable genetic findings have been reported in over 30 years of study into the disease, offering new approaches for better diagnosis and treatment of patients.

The results of the ME/CFS study are being presented today at the M.E. Genetics Research Summit organized by ME charity, Action for M.E. and the MRC Human Genetics Unit, University of Edinburgh. The data has also been submitted for peer reviewed publication and is available on the pre-publication site medRxiv, here: https://www.medrxiv.org/content/10.1101/2022.09.09.22279773v1.

The use of a new hypothesis-free combinatorial analytics approach using the PrecisionLife platform enabled the study to identify 14 novel genetic associations with ME/CFS from the UK Biobank cohort. Specifically, the combinatorial analysis revealed 199 SNPs, mapping to these 14 genes, that were significantly associated with 91% of the cases in the ME/CFS population. Many of these genes are involved in highly plausible cellular mechanisms associated with ME/CFS disease including vulnerabilities to stress and infection, mitochondrial dysfunction, sleep disturbance and autoimmune development.

The study also identified similarities with genes that PrecisionLife has found to be associated with multiple sclerosis (MS) and long COVID.

ME/CFS is a debilitating chronic disease affecting around 17 million people worldwide, which presents with diverse symptoms including post-exertional malaise, chronic pain, and cognitive impairment. There are currently no approved disease modifying therapies for ME/CFS, and patients are managed via prescription of drugs and other therapies for symptomatic relief, including pain relief, anti-depressants, and cognitive behavioural therapy.

Sonya Chowdhury, Chief Executive, Action for M.E., said: For too long, people with ME/CFS have struggled to get their condition diagnosed, understood, and acknowledged. These are exciting findings from PrecisionLife that may be used to develop diagnostic biomarkers and discover novel drug targets and precision repositioning opportunities in the future. If successful, these could be used to create the first therapeutic options for this debilitating disease.

Dr Steve Gardner, CEO, PrecisionLife, added: These groundbreaking results provide new hope of developing effective precision medicines for people living with ME/CFS around the world. It is further validation for our unique approach to the analysis of complex disease biology. PrecisionLife now has this unprecedented level of insight across over 40 diseases that we have so far studied, which creates wonderful opportunities for us and our partners to bring novel solutions for patients with unmet medical needs.

MS and ME/CFS patients share a number of similar symptoms and there is increasing evidence that many long COVID patients also share similar symptoms. It is also believed that some patients may be developing ME/CFS symptoms as a direct result of having a COVID-19 infection.

PrecisionLife is in the process of analyzing long COVID-19 and MS populations to identify shared genes and biological mechanisms underpinning ME/CFS, MS and long COVID-19 development. Establishing the similarities and differences between them in more detail is likely to have profound implications for patients and the development of novel diagnostic and therapeutic tools.

Preliminary findings from the PrecisionLife long COVID analysis have indicated that three of the genes identified its ME/CFS study are also significant in the long COVID patient group. These will be subject of further validation in a new publication later this year.

Next, PrecisionLife aims to replicate and extend the results of this UK Biobank study with combinatorial analysis of the DecodeME study, the largest genetic ME/CFS study, with over 20,000 participants. This is likely to allow further insights into the different subgroups and targets involved with the disease.

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New Study Reveals First Genetic Links in ME and Chronic Fatigue Syndrome Paving the Way for New Diagnostics and Drugs - PharmiWeb.com