Category Archives: Genetics

WASHINGTON Today, the Chan Zuckerberg Initiative (CZI) announced a partnership with Howard Universityand the nations three other historically Black medical colleges to further support cutting-edge scientific research to address significant gaps in genomics. CZIs Accelerate Precision Health (APH) program will award $11.5 million to Howard University's Office of Research over five years, allowing the University to expand research in the genome field, bring on renowned faculty, fund post-doctoral fellows, and support grant writing for future initiatives.

The $11.5 million award represents the latest stride toward fulfilling a key research goal outlined in the Howard Forward Office of Research strategic plan to leverage Howards genetic research to attract and mobilize resources to tackle global challenges, especially as they relate to Black populations. Black communities have been historically underrepresented in clinical trials and genetics research and today are still often excluded from medical studies. Recently, during the COVID-19 pandemic, despite Black Americans suffering a higher mortality rate than whites, many studies excluded Black participants.

To me, genetics research is more than just an academic pursuit, said Howard University President Wayne A. I. Frederick, M.D., MBA. As someone with sickle cell anemia, the study of genetics is not abstract. When I was born, people with sickle cell disease were told that they would not live beyond childhood. Today, a child born with sickle cell disease has somewhere around a 99% chance of living to adulthood. Those advances didnt happen by accident: Howard researchers have participated in every clinical trial that has led to FDA-approved medications for sickle cell disease treatment. This grant from CZI will allow us to continue to break new ground in genetics and genomics research for generations to come.

I am incredibly excited for this new venture with CZI to expand Howards important work in the fields of genomics and genetics, said Bruce Jones, Ph.D., Vice President for Research at Howard University. Research partnerships at Howard expand our understanding of issues impacting the Black community, from genetics and genomics and other STEM fields, to groundbreaking research in literature, the arts, law and other social science fields, leading to advancements in policy, medicine, and culture that benefit all communities.

For generations, Howard University has been at the forefront of genomics and genetics research, with a focus on the Black community. More than 50 years ago, Howard launched the Center for Sickle Cell Disease with the goal of providing care for patients and advancing research into sickle cell disease, the most frequent rare genetic disease, which mostly affects people of African descent. Twenty years ago, Howard launched the first large-scale collection of genetic profiles of African Americans.

Today, researchers at the National Human Genome Center at Howard University continue to work on the frontlines of genomics and genetics, including research by Dr. Angel Byrd on gene expression of Alibert Bazin syndrome and other lymphomas that disproportionately harm Black patients and Dr. Bernard Kwabi-Addos genetic research of prostate cancer disparities in Black communities.

The Howard University Accelerating Precision Health grant is led by co-principal investigators Kera Lawson, Ph.D., executive director of research development, and Pamela A.G. Clarke, MSc., director of research development in the Office of Research.

Specific initiatives at Howard to be funded by the CZI APH program include:

The new partnership will create new opportunities for cross-collaboration between Chan Zuckerberg Initiative staff and Howard faculty and students, including: the matching of Howard faculty expertise with other CZI research partners to foster joint interdisciplinary efforts and research; CZI professional development and training opportunities for Howard faculty; and opportunities for Howard students to learn new techniques outside of their home institution.

Pictured:Howard University'sDr. Marjorie C. Gondr-Lewis and team,whose NeuroPsychoPharmacology Laboratoryconductsprecision brain health research. Photo image courtesy of CZI.

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About Howard University

Founded in 1867, Howard University is a private, research university that is comprised of 14 schools and colleges. Students pursue more than 140 programs of study leading to undergraduate, graduate and professional degrees. The University operates with a commitment to Excellence in Truth and Service and has produced one Schwarzman Scholar, three Marshall Scholars, four Rhodes Scholars, 12 Truman Scholars, 25 Pickering Fellows and more than 165 Fulbright recipients. Howard also produces more on-campus African American Ph.D. recipients than any other university in the United States. For more information on Howard University, visit http://www.howard.edu.

About the Chan Zuckerberg Initiative

The Chan Zuckerberg Initiative was founded in 2015 to help solve some of societys toughestchallengesfrom eradicating disease and improving education, to addressing the needs of ourcommunities. Through collaboration, providing resources and building technology, our mission is to help build a more inclusive, just, and healthy future for everyone. For more information, please visit http://www.chanzuckerberg.com.

Media contact: Sholnn Freeman; sholnn.freeman@howard.edu

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Howard University's Office of Research Awarded $11.5 Million From Chan Zuckerberg Initiative To Advance Genomics And Genetics Research - The Dig

As a rapidly advancing climate emergency turns the planet ever hotter, the Dallas-based biotechnology company Colossal Biosciences has a vision: To see the Woolly Mammoth thunder upon the tundra once again. Founders George Church and Ben Lamm have already racked up an impressive list of high-profile funders and investors, including Peter Thiel, Tony Robbins, Paris Hilton, Winklevoss Capital and, according to the public portfolio its venture capital arm released this month, the CIA.

Colossal says it hopes to use advanced genetic sequencing to resurrect two extinct mammals not just the giant, ice age mammoth, but also a mid-sized marsupial known as the thylacine, or Tasmanian tiger, that died out less than a century ago. On its website, the company vows: Combining the science of genetics with the business of discovery, we endeavor to jumpstart natures ancestral heartbeat.

In-Q-Tel, its new investor, is registered as a nonprofit venture capital firm funded by the CIA. On its surface, the group funds technology startups with the potential to safeguard national security. In addition to its long-standing pursuit of intelligence and weapons technologies, the CIA outfit has lately displayed an increased interest in biotechnology and particularly DNA sequencing.

Why the interest in a company like Colossal, which was founded with a mission to de-extinct the wooly mammoth and other species? reads an In-Q-Tel blog post published on September 22. Strategically, its less about the mammoths and more about the capability.

Biotechnology and the broader bioeconomy are critical for humanity to further develop. It is important for all facets of our government to develop them and have an understanding of what is possible, Colossal co-founder Ben Lammwrote in an email to The Intercept. (A spokesperson for Lamm stressed that while Thiel provided Church with$100,000 in funding to launchthe woolly mammoth project that became Colossal, he is not a stakeholderlike Robbins, Hilton, Winklevoss Capital, and In-Q-Tel.)

Colossal uses CRISPR gene editing, a method of genetic engineering based on a naturally occurring type of DNA sequence. CRISPR sequences present on their own in some bacterial cells and act as an immune defense system, allowing the cellto detect and excise viral material thattries to invade. The eponymous gene editing technique was developed to function the same way, allowing users to snip unwanted genes and program a more ideal version of the genetic code.

CRISPR is the use of genetic scissors, Robert Klitzman, a bioethicist at Columbia University and a prominent voice of caution on genetic engineering, told The Intercept. Youre going into DNA, which is a 3-billion-molecule-long chain, and clipping some of it out and replacing it. You can clip out bad mutations and put in good genes, but these editing scissors can also take out too much.

The embrace of this technology, according to In-Q-Tels blog post, will help allow U.S. government agencies to read, write, and edit genetic material, and, importantly, tosteerglobal biological phenomena that impact nation-to-nation competition whileenabling the United States to help set the ethical, as well as the technological, standards for its use.

In-Q-Tel did not respond to The Intercepts requests for comment.

In recent years, the venture firms portfolio has expanded to include Ginkgo Bioworks, a bioengineering startup focused on manufacturing bacteria for biofuel and other industrial uses; Claremont BioSolutions, a firm that produces DNA sequencing hardware; Biomatrica and T2 Biosystems, two manufacturers for DNA testing components; and Metabiota, an infectious disease mapping and risk analysis database powered by artificial intelligence. As The Intercept reported in 2016, In-Q-Tel also invested in Clearista, a skincare brand that removes a thin outer epidermal layer to reveal a fresher face beneath it and allow DNA collection from the skin cells scraped off.

President Joe Bidens administration signaled its prioritization of related advances earlier this month, when Biden signed an executive order on biotechnology and biomanufacturing. The order includes directives to spur public-private collaboration, bolster biological risk management, expand bioenergy-based products, and engage the international community to enhance biotechnology R&D cooperation in a way that is consistent with United States principles and values.

The governments penchant for controversial biotechnology long predates the Biden administration. In 2001, a New York Times investigation found that American defense agencies under Presidents George W. Bush and Bill Clinton had continued to experiment with biological weapons, despite a 1972 international treaty prohibiting them. In 2011, The Guardian revealed that the CIA under President Barack Obama organized a fake Hepatitis B vaccine drive in Pakistan that sought to locate family members of Osama bin Laden through nonconsensual DNA collection, leading the agency to eventually promise a cessation of falseimmunization campaigns.

CIA Labs, a 2020 initiative overseen by Donald Trumps CIA director, Gina Haspel infamous for running a torture laboratory in Thailand follows a model similar to In-Q-Tels. The program created a research network to incubate top talent and technology for use across U.S. defense agencies, while simultaneously allowing participating CIA officers to personally profit off their research and patents.

In-Q-Tel board members are allowed to sit on the boards of companies in which the firm invests, raising ethics concerns over howthe non-profit selects companies to back with government dollars. A 2016 Wall Street Journal investigation found that almost half of In-Q-Tel board members were connected to the companies where it had invested.

The size of In-Q-Tels stake in Colossal wont be known until the nonprofit releases its financial statements next year, but the investment may provide a boon on reputation alone: In-Q-Tel has claimed that every dollar it invests in a business attracts 15 more from other investors.

Colossals co-founders, Lamm and Church, represent the ventures business and science minds, respectively. Lamm, a self-proclaimed serial technology entrepreneur, founded his first company as a senior in college, then pivoted to mobile apps and artificial intelligence before helping to start Colossal.

Church a Harvard geneticist, genome-based dating app visionary, and former Jeffrey Epstein funding recipient has proposed the revival of extinct species before. Speaking to Der Spiegel in 2013, Church suggested the resurrection of the Neanderthal an idea met with controversy because it would require technology capable of human cloning.

We can clone all kinds of mammals, so its very likely that we could clone a human, Church said. Why shouldnt we be able to do so? When the interviewer reminded him of a ban on human cloning, Church said, And laws can change, by the way.

Even when the methods used for de-extinction are legal, many scientists are skeptical of its promise. In a 2017 paper for Nature Ecology & Evolution, a group of biologists from Canada, Australia, and New Zealand found that [s]pending limited resources on de-extinction could lead to net biodiversity loss.

De-extinction is a fairytale science, Jeremy Austin, a University of Adelaide professor and director of the Australian Center for Ancient DNA,toldthe Sydney Morning Herald over the summer, when Colossal pledged to sink $10 million into the University of Melbourne for its Tasmanian tiger project. Its pretty clear to people like me that thylacine or mammoth de-extinction is more about media attention for the scientists and less about doing serious science.

Critics who say de-extinction of genes to create proxy species is impossible are critics who are simply not fully informed and do not know the science. We have been clear from day one that on the path to de-extinction we will be developing technologies which we hope to be beneficial to both human healthcare as well as conservation, Lamm wrote to The Intercept. We will conitnue [sic] to share these technologies we develop with the world.

It remains to be seen if Colossal, with In-Q-Tels backing, can make good on its promises. And its unclear what, exactly, the intelligence world might gain from the use of CRISPR. But perhaps the CIA shares the companys altruistic, if vague, motives: To advance the economies of biology and healing through genetics. To make humanity more human. And to reawaken the lost wilds of Earth. So we, and our planet, can breathe easier.

Update: September 28, 2022, 1:00 p.m. ETThis story has been updated with a statement from Colossal co-founder Ben Lamm.

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CIA Just Invested In Woolly Mammoth Resurrection Tech - The Intercept

Monkeypox is a painful and debilitating viral infection. Cases have been rising rapidly since April, causing the World Health Organization to declare the monkeypox outbreak a global health emergency as of July 20221. Thankfully, science is on our side and vaccinia-based vaccines may be the key to stopping another pandemic.

Vaccinia-based vaccines contain inactivated or non-pathological viruses. These types of vaccines are being explored for use against monkeypox as this type of vaccine is behind the eradication of the smallpox outbreak that wiped out millions worldwide2. Recent evidence demonstrates that these vaccines have been effective against the monkeypox virus due to a concept known as cross-reactivity.

Cross-reactivity simply means that there are similarities within each virus which may mean similar targets to develop immunity2. However, the virus responsible for smallpox is genetically different from the virus responsible for monkeypox. Due to this genetic variation, it is unknown whether the vaccinia-based vaccines would be effective2.

To gain further understanding, a group of researchers accessed public databases to compare the genetic code of the vaccinia virus pre-1980s (smallpox) and compared these to the 2022 monkeypox viruses2. The exploration focused on the segments of the viruses that are targeted by the immune system, known as epitopes. Comparing epitopes between the viruses could show how effective the vaccinia-based vaccine may be against the 2022 monkeypox virus2.

The researchers then sought to determine the degree of genetic similarity among the epitopes that are recognized by our T cells. T cells are paramount in fighting pathogens and are responsible for inducing a range of immune responses against different infectious agents1,3. These researchers found similarities among the epitopes recognized by our T cells which means there is a positive association between the vaccinia-based vaccine and the activation and function of our T cells2.

The 2022 monkeypox virus contains mostly similar epitopes to that of the vaccinia virus. This implies that the vaccinia-based vaccine may be the defense needed against this monkeypox virus and its strains2,3.

Despite these encouraging results, additional studies are warranted to discover the specificity of immune responses based on genetic differences, but similarities of epitopes observed between the 2022 monkeypox virus and the vaccinia virus3.

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Fighting the Monkeypox Virus: Genetics as a Predictor of Vaccinia Vaccine Effectiveness - Medical News Bulletin

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Improved pea reference genome and pan-genome highlight genomic features and evolutionary characteristics - Nature.com

Highlights include: a memorandum of understanding with Memorial Sloan Kettering Cancer Center and a novel new partnership with Boundless Bio, a next-generation precision oncology company

SOPHiA GENETICS next-generation solution CarePath, fueled by current real world observational data, was previewed for attendees

BOSTON and GENEVA, Switzerland, Sept. 21, 2022 (GLOBE NEWSWIRE) -- SOPHiA GENETICS (Nasdaq: SOPH), a cloud-native software company in the healthcare space, hosted its first-ever Investor Day on Tuesday, September 20, 2022, in New York City.

The event, hosted by the CEO and Co-Founder Dr. Jurgi Camblong and members of the executive leadership team, provided a roadmap of the Companys long-term vision and highlighted new commercial opportunities and partnerships. One takeaway from the event was SOPHiA GENETICS acceleration into the Biopharma space, which opens the door for new opportunities for market growth. The audience also heard how the Companys strategic business model allows for it to continue to provide robust depth in the clinical space.

A key theme throughout the day was how we innovate; how SOPHiA GENETICS, from its inception, has identified opportunities in the healthcare industry for innovation and acceleration of data sharing to advance medicine, research and patient care, said Jurgi Camblong, CEO and Co-Founder, SOPHiA GENETICS. Our vision is made possible by the strong foundation our company has been built on, as well as the strategic relationships we have formed to further our mission of democratizing data-driven medicine.

New Collaboration with One of the Top-Ranked Cancer Centers in the United StatesSOPHiA GENETICS recently announced a memorandum of understanding to enter into a collaboration with Memorial Sloan Kettering Cancer Center (MSK). Once executed, the collaboration agreements will blend the power of SOPHiA GENETICS large, global network and deep expertise in predictive algorithms with MSKs clinical expertise in cancer genomics. The collaboration agreements will also allow SOPHiA GENETICS global network of healthcare providers access to MSKs proprietary tumor sequencing tests such as MSK-IMPACT, for analyzing tumors. Additionally, the collaboration agreements will combine MSKs rich precision oncology data with the SOPHiA CarePathmodule to enable the acceleration of actionable insights from data to improve patient outcomes.

Our vision is to expand access to world-class data, including to our current network, which contributes to the collective intelligence of the SOPHiA GENETICS platform, said Philippe Menu, M.D.-Ph.D., Chief Medical Officer, SOPHiA GENETICS.

Enabling Biotech Developing Novel Cancer Therapies Targeting Oncogene AmplificationSOPHiA GENETICS announced a partnership with Boundless Bio, a next-generation precision oncology company developing innovative therapeutics directed against extrachromosomal DNA (ecDNA) in oncogene amplified cancers.

It has been well established that patients with oncogene amplification generally do not benefit from standard of care cancer treatments, and unlike other forms of oncogenic gene alterations, oncogene amplification frequently occurs on ecDNA. ecDNA are circular units of nuclear DNA that are distinct from normal chromosomes and are the primary site for high copy number amplification in cancer. Boundless Bio is developing the first ecDNA-directed therapies (ecDTx) along with a precision diagnostic method called ECHO (ecDNA Harboring Oncogenes) to detect ecDNA from a patients routine tumor sequencing data.

The partnership between Boundless Bio and SOPHiA GENETICS will further develop ECHO for use in ecDTx clinical trials.

SOPHiA GENETICS unique ability to harmonize data derived from diverse genomic instruments and deploy as a robust, standardized solution enables a new model for clinical trial testing. This decentralized, global genomic solution combined with Boundless Bios ecDTx drug development capabilities aims to unlock value by breaking the barriers inherent to the traditional central lab approach; optimizing patient selection and clinical trial design; and enabling a global collective network of major hospitals and academic centers to effectively deliver new treatment options to patients with oncogene amplified cancers.

We are pleased to partner with SOPHiA GENETICS for the development of Boundless Bios ecDNA detection algorithm, ECHO, into a clinical trial device, said Peter Krein, Ph.D., Vice President of Precision Medicine at Boundless Bio. The ability to identify patients with ecDNA driven tumors is critical to our mission in addressing this area of high unmet medical need. SOPHiA GENETICS unique expertise in developing cloud based IVD NGS software algorithms makes them an ideal partner to develop ECHO into an investigational device.

DEEP-Lung-IV Multimodal Clinical Study Fuels New SOPHiA Carepath PlatformIn late 2021, SOPHiA GENETICS launched a DEEP-Lung-IV Multimodal Clinical Study with the goal of aggregating real-world multimodal (genomic, clinical, biological and radiomic) data for patients with metastatic non-small cell lung cancer. The study has garnered interest from top-tier centers globally, with a strong patient recruitment trend; to-date, nearly 900 patients across 23 sites have been enrolled in the study. As patients have been followed along the patient journey, data sets have been collected and analyzed by SOPHiA GENETICS machine learning algorithm to predict how the patients will respond to immunotherapy and why.

These robust and growing patient data will inform SOPHiA GENETICS artificial intelligence and machine learning that will fuel the forthcoming SOPHiA CarePathmodule, a new product that will be launched on the SOPHiA DDM Platform and aims to be the vehicle healthcare practitioners can use to leverage the real-world, real-time insights obtained from this study. The SOPHiA CarePathmodule will provide the following benefits:

Alongside these announcements, a full recording of the event is available on theInvestor Relationspage of the companys website.

About SOPHiA GENETICSSOPHiA GENETICS (Nasdaq: SOPH) is a software company dedicated to establishing the practice of data-driven medicine as the standard of care and for life sciences research. It is the creator of the SOPHiA DDM Platform, a cloud-native platform capable of analyzing data and generating insights from complex multimodal data sets and different diagnostic modalities. The SOPHiA DDM Platform and related solutions, products and services are currently used by a broad network of hospital, laboratory, and biopharma institutions globally. For more information, visitSOPHiAGENETICS.COM, or connect onTwitter,LinkedIn, Facebook, andInstagram.Where others see data, we see answers

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures, unless specified otherwise. The information in this press release is about products that may or may not be available in different countries and, if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact support@sophiagenetics.com to obtain the appropriate product information for your country of residence.

SOPHiA GENETICS Forward-Looking Statements:This press release contains statements that constitute forward-looking statements. All statements other than statements of historical facts contained in this press release, including statements regarding our future results of operations and financial position, business strategy, products and technology, as well as plans and objectives of management for future operations, are forward-looking statements. Forward-looking statements are based on our managements beliefs and assumptions and on information currently available to our management. Such statements are subject to risks and uncertainties, and actual results may differ materially from those expressed or implied in the forward-looking statements due to various factors, including those described in our filings with the U.S. Securities and Exchange Commission. No assurance can be given that such future results will be achieved. Such forward-looking statements contained in this press release speak only as of the date hereof. We expressly disclaim any obligation or undertaking to update these forward-looking statements contained in this press release to reflect any change in our expectations or any change in events, conditions, or circumstances on which such statements are based, unless required to do so by applicable law. No representations or warranties (expressed or implied) are made about the accuracy of any such forward-looking statements.

Media Contact:Kelly KatapodisSenior Manager, Media & Communicationsmedia@sophiagenetics.com

Investor Contact:Jennifer PottageHead of Investor Relationsir@sophiagenetics.com

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SOPHiA GENETICS Unveils Strategy to Drive Health Care Innovations at Inaugural Investor Day Event - GlobeNewswire

September 19, 2022

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Researchers at Tuskegee University have discovered specific genetic variants found in prostate tumors of men of African descent were associated with African ancestry, according to two studies led by Dr. Clayton Yates, professor of biology and director of the university's multidisciplinary Center for Biomedical Research and graduate student Isra Elhussin.

Both studies supported by the United States Department of Defense and the National Cancer Institute of the National Institutes of Health highlight the contributions of African ancestry to prostate cancer genetics and provide a resource for addressing cancer health disparities. The studies were presented during the 15th AACR Conference on the Science of Cancer Health Disparities in Racial and Ethnic Minorities and the Medically Underserved held in Philadelphia, Pennsylvania.

Inherited Genetic Factors

"In the United States, Black men have the highest rate of prostate cancer-related mortality. Most studies examining disparities focus on race, typically self-reported and defined by skin color and social and cultural traits," said Dr. Yates, who also serves as the senior author on both studies, and chair of the AACR Minorities in Cancer Research Council.

Dr. Yates said addressing health disparities requires understanding genetic ancestry's contributions to tumor biology. Insights into genetic ancestry could aid precision medicine efforts by uncovering potential therapeutic targets specific to patients with African ancestry.

In the first study, Isra Elhussin, an AACR NextGen Star, examined the impact of African ancestry on the expression of immune inflammation gene signatures associated with higher immunogenicity and aggressive prostate cancers in men of African descent. Elhussin and other project colleagues reported that prostate tumors from African American men had a twofold greater activation of inflammatory signaling, which may contribute to the more aggressive disease typically observed in these patients.

"Cancer is one of the primary leading causes of death in the Black community. Access to healthcare, socioeconomic status, and genetic ancestry are directly correlated to survival disparities," said Elhussin. "The underrepresentation of Black patients in genomic studies and clinical trials precisely impacts their benefits of personalized medicine."

" Our research highlights the need for diversity in cancer research, filling the gap and building trust with our Black community," said Elhussin. "We are focusing on strategies that could help with disease prevention and therapeutic intervention by linking cancer genes back to their Ancestral origin and stratifying Ancestry-specific markers that affect patients' outcomes and their response to targeted therapy."

Investigating the possibilityElhussin and colleagues sequenced prostate tumors from 72 patients in the United States who had not undergone cancer treatment to determine the role of African ancestry in prostate cancer. Using reference databases, Elhussin determined that most of the patients who identified as African American had genetic markers consistent with men of African descent.

"We are the first to demonstrate that African genetic ancestry is associated with SPOP mutation, which leads to higher immunogenicity, upregulation of an immune inflammation signature, and higher tumor infiltration of immune cells expressing exhaustion markers, providing a potential mechanism for the higher prostate cancer-related mortality among men with African ancestry," said Elhussin. "These findings have implications for treating prostate cancers and could lead to new therapeutic strategies using anti-inflammatory drugs and immune modulators to decrease the disease burden among men of African descent."

"This is an exciting discovery that may help identify patients who would benefit from immunotherapy, which is particularly important given that African Americans are often underrepresented in clinical trials evaluating such therapies," noted Yates.

The second study was published in the American Association for Cancer Research (AACR) in the journal Cancer Research Communities; Yates, alongside colleague Jason White, MS, compared DNA sequences from Nigerian, African American, and European American prostate tumor patients. The study was completed in collaboration with the Prostate Cancer Transatlantic Consortium (CaPTC).

"Our goal was to understand the genomic contributions to prostate cancer among Nigerian men, something that had never been studied before," said Dr. Yates. "We performed sequencing to determine if there were unique mutations associated with the Nigerian population that was distinct from those in tumors from African Americans or European Americans, as well as to identify any similarities across these populations."

The research found that genetic variants were similar between the Nigerian and African American prostate tumors, with specific variants in particular genes.

2022 Tuskegee University

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TU Researchers connect genetic ancestry with prostate tumors - Tuskegee University

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Large-scale and small-scale population genetic structure of the medically important gastropod species Bulinus truncatus (Gastropoda, Heterobranchia) -...

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

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Mental illness is a growing public health problem. In 2019, an estimated 1 in 8 people around the world were 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 of variations in 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 per centof genetic studies have been conducted on people of European descent. Less than two per cent have included people of African descent, even though these individuals have the most genetic variation of all human populations.

To uncover the genetic factors driving 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 US 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 analyse 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 from genome-wide association studies that compare the genetic variations between people with and without a particular disease.

However, these data sets are mostly based 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.

Prioritising 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 programmes.

Our collaboration with African research groups provides a prime example of our 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 a dedicated training programme.

Analysing variation

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 analysing 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 the exome the less thantwo per cent of the genome that codes for proteins in high detail, as well as sequencing the 98 per cent 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 depth maximises 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.

Personalising medicine

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 of personalised 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.

Hailiang Huang, Assistant Professor of Medicine, Harvard University

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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Uncovering the genetic basis of mental illness requires data and tools that aren't just based on white people - Down To Earth Magazine

At 44, Janet Waterhouse should have been the picture of health; a former Division I soccer player, she taught yoga, enjoyed running, and didnt drink alcohol. Despite her healthy and active lifestyle, over a span of decades she experienced a number of unexplained symptoms.

Her symptoms continued to worsen into her 20s when she began to sporadically lose function of her hands and experience severe bouts of vertigo. Most doctors attributed her symptoms to stress and anxiety. During this time, Waterhouse was seeing a pain management specialist, who was concerned enough about her worsening symptoms to run a blood test, where he found irregularly shaped blood cells, called acanthocytes.

A series of serendipitous referrals led Waterhouse to Ali Hamedani, an assistant professor of neurology and ophthalmology in the Perelman School of Medicine. Based on her symptoms and exam, he suspected a genetic condition called chronic progressive external ophthalmoplegia (CPEO) and referred her to Laynie Dratch, a certified genetic counselor in the Penn Neurogenetics Therapy Center, for genetic testing.

In May of 2022, Dratch gave Waterhouse what she had been chasing for decades: a diagnosis. When the genetic counselor told me they found the genetic mutation they were looking for, I cried for a solid five minutes out of relief, Waterhouse says.

Waterhouses case of CPEO was found to be caused by a variation on her RRM2B gene, which affects the mitochondria in her cells. While the condition is very rare and can sometimes take years to locate and diagnose, Hamedanis hunch about the gene mutation led them right to it.

Because little is known about CPEO, treatment options are limited. Most people would be discouraged by the uncertainty, she says, but it thrills me to get to be the blueprint. I get to show people how to live with this.

Launched in March 2020, the Penn Neurogenetics Therapy Center has a team of clinicians, nurses, genetic counselors, and clinical research staff who are devoted to the care of patients with inherited neurological disorders and to participating in clinical trials of novel gene and molecular therapies.

The programs mission is twofold: first, they utilize the expertise of clinicians and researchers throughout the department of Neurology and across Penn Medicine to achieve a genetic diagnosis for as many patients like Waterhouse as possible, creating a database of eligible patients for new treatments and clinical trials. Second, they work to establish clinical trials using novel gene and molecular therapies for patients with genetically-based neurological disorders.

Our genetics counselors are some of the best in the country, and are incredibly effective at diagnosing patients and matching them with effective treatments and clinical trials, says Steven Scherer, a professor of neurology and director of the Neurogenetics Therapy Center. Now we can utilize this expertise to design tomorrows therapies.

Read more at Penn Medicine News.

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Solving medical mysteries with genetics: The Penn Neurogenetics Therapy Center | Penn Today - Penn Today