Category Archives: Genetics

The Centre for DNA Fingerprinting and Diagnostics (CDFD) here has undertaken a study to look for rare genetic diseases with samples collected from different castes, linguistic groups and regions across the country to understand their prevalence and analyse the mutations for taking up counselling for the affected groups.

CDFD director K. Thangaraj told Manthan-Samvaad 2022, the annual event of Manthan public discourse forum, on Sunday about 20 different centres across the country India involved in the study making use of animal models, and that a special lab for rare diseases has also been opened at the institute for the purpose.

The eminent geneticist disclosed that there are a lot more population-specific recessive diseases among the Indian and South Asian people because of the endogamous (intra-community) marriages and that has to be studied. If the disease-causing mutation is dominant, it will come out but in recessive mutations, it will be carried across generations and could arise in the off springs subsequently even if they are not related but belong to the same community, he explained.

Every Indian population is unique, yet has some kind of genetic affinities. If the Andamanese were the first to migrate from Africa, second batch moved to Europe and some towards North India called as Ancestral North Indians (ANI). These groups admixed within themselves and with Ancestral South Indians (ASI) 2,000-3,000 years ago before endogamous relationships became the norm 2,000 years ago. It refutes the Aryan invasion theory, but brought forth a large recessive disease base, said Dr. Thangaraj.

With many other populations like Jews and Parsis having migrated later, India becomes a complex nation in terms of genetics, and analysing gives lot more information about the genetic affinities between them. The endogamous impact on health and diseases like cardiac diseases was found to be more prevalent in South Asia, he said.

Since there are many populations suffering with rare genetic diseases, the need of the hour is to follow the Jewish method of genetic study to look for mutations and followed by counselling among the couples, to stop the further spread of the disease, he added.

Former Indian Ambassador to Saudi Arabia Talmiz Ahmed in his talk Indias western neighbours friends or foes called for a new strategic doctrine with emphasis on forging better ties with West Asia because of oil, trade, working population and huge remittances and others, Iran, Russia and even China despite difficulties, rather than leaning too much on the United States, whose influence and power has been diminishing.

Ex-Army officer and Senior Fellow at the Centre for Policy Research Sushant Singh said while the financial burden of huge defence pensions has forced the government hand in bringing out the Agnipath scheme of recruitment into armed forces, it is flawed. It could disturb the armed forces functioning and also damage the civic society later especially when there is large scale unemployment and the economy is down. Manthan trustees former chief secretary K. Madhav Rao and M.R. Vikram also spoke.

Read more:
Study on rare genetic diseases among diverse demographics in India - The Hindu

Centogene NV

Working together with Denali Therapeutics to accelerate data-driven precision medicine for the PD community

Rostock International Parkinson's Disease (ROPAD) Study aims to characterize the genetics of PD to establish a better understanding of the disease progression, diagnosis, and treatment

Worldwide 120 study sites marks this as the largest observational study for genetics in PD

CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, Oct. 03, 2022 (GLOBE NEWSWIRE) -- Centogene N.V. (Nasdaq: CNTG), the commercial-stage essential biodata life science partner for rare and neurodegenerative diseases, today announced reaching a significant milestone with the recruitment and genetic testing of 12,500 participants in the Rostock International Parkinson's Disease (ROPAD) Study. With more than 120 study sites around the world, CENTOGENE is leading the largest study of its kind a global observational study focused on the role of genetics in Parkinson's disease (PD). As part of the ROPAD study, CENTOGENE utilizes CentoCard, its proprietary, CE-marked dried blood spot collection kit in combination with state-of-the-art sequencing technologies to develop a first-in-class Parkinsons Disease Panel that is being used to screen participants for mutations in leucine-rich repeat kinase 2 (LRRK2) as well as other PD-associated genes. CENTOGENEs Parkinsons Disease Panel has been widely adopted by clinicians, and its use could provide vital information to allow more precise therapeutic development in the future.

Having met the initial milestone of recruiting and performing genetic testing of 10,000 participants in March 2021, CENTOGENE and Denali Therapeutics extended their partnership to recruit and test an additional 2,500 patients. In 2018, CENTOGENE entered a strategic collaboration with Denali Therapeutics for the targeted global identification of PD patients with mutations in the LRRK2 gene. The LRRK2 gene is one of the most common mutated genes in familial PD.

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Patients enrolled in ROPAD and identified with a LRRK2 mutation may be eligible for participation in future therapeutic clinical studies. CENTOGENE conducts clinical studies with biopharma partners around the world, such as Denali Therapeutics, who are currently evaluating the efficacy and safety of a small molecule, LRRK2 inhibitor, which aims to slow the progression of PD in individuals with a pathogenic mutation in LRRK2 in the LIGHTHOUSE study. More information about LIGHTHOUSE (NCT05418673) is available at ClinicalTrials.gov.

Parkinsons disease is a devastating neurodegenerative disease, and there is a significant medical need to truly unveil deeper data on PD genetics to accelerate diagnosis and personalized Parkinsons treatments, said Kim Stratton, Chief Executive Officer at CENTOGENE. In reaching such a pivotal milestone in our Parkinsons disease study, we have been able to unlock significant insights into the genetic factors which we believe together with partners, such as Denali with their therapeutics targeting LRRK2, will accelerate the development of potentially life-saving therapeutics for many PD patients around the world.

More than 10 million people worldwide are affected by Parkinsons disease, many of which are tied to genetic factors, like LRRK2, said Carole Ho, M.D., Chief Medical Officer at Denali. In combining forces with CENTOGENE, we have unlocked significant insights and are committed to working together towards a unified goal of accelerating the development of potentially life-saving therapeutics for PD patients around the world.

About ROPAD

The Rostock International Parkinson's Disease Study (ROPAD) is a global epidemiological study focusing on the role of genetics in Parkinson's disease (PD). The major goal of the study is to characterize the genetics of PD to establish a better understanding of the disease etiology, diagnosis, and severity.

CENTOGENE utilizes CentoCard, the Companys proprietary, CE-marked dried blood spot collection kit in combination with state-of-the-art sequencing technologies to screen for mutations in LRRK2 and other PD-associated genes. This is based on insights powered by the CENTOGENE Biodatabank, what the Company believes to be the worlds largest real-world data repository for rare and neurodegenerative diseases. Throughout this study, 12,500 participants from around the world have been tested over a circa three-year period.

Patients with mutations in PD genes are offered further clinical assessment in a supplementary study, Lbeck International Parkinsons Disease Project (LIPAD), conducted at the University of Lbeck where a detailed phenotyping of participants is being performed. Patients enrolled in ROPAD and identified with a LRRK2 mutation may be eligible for participation in future therapeutic clinical studies. CENTOGENE conducts clinical studies with biopharma partners around the world, such as Denali Therapeutics, who are currently developing a small molecule, LRRK2 inhibitor for the treatment of PD.

To learn more about ROPAD, visit: https://www.centogene.com/pharma/clinical-trial-support/rostock-international-parkinsons-disease-study-ropad

About Denali Therapeutics

Denali Therapeutics is a biopharmaceutical company developing a broad portfolio of product candidates engineered to cross the blood-brain barrier (BBB) for neurodegenerative diseases. Denali pursues new treatments by rigorously assessing genetically validated targets, engineering delivery across the BBB and guiding development through biomarkers that demonstrate target and pathway engagement. Denali is based in South San Francisco. For additional information, please visit http://www.denalitherapeutics.com.

About CENTOGENE

CENTOGENE (Nasdaq: CNTG) is transforming real-world clinical, genetic, and multiomic data to enable better health outcomes for patients with rare and neurodegenerative diseases. For over 15 years, CENTOGENE has been providing diagnostic insights to patients with genetic diseases through our network of nearly 30,000 active physicians. CENTOGENE now believes its Biodatabank is the worlds largest real-world data repository of corresponding patients from more than 120 countries. Simplified logistics solutions, including CentoCard for sending biosamples, and our ISO, CAP, & CLIA certified state-of-the-art multiomic reference labs offer patients rapid and reliable diagnoses to support the identification and personalization of their treatments. Ultimately, offering the best treatment for patients involves developing new or better therapies. We are de-risking orphan drug discovery and development by partnering with more than 30 biopharma in target & drug screening, clinical development, market access and expansion. CENTOGENE engages in biodata partnerships with our Biodata Licenses and Insight Reports.

To discover more about our products, pipeline, and patient-driven purpose, visitwww.centogene.comand follow us onLinkedIn

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the U.S. federal securities laws. Statements contained herein that are not clearly historical in nature are forward-looking, and the words anticipate, believe, continues, expect, estimate, intend, project, and similar expressions and future or conditional verbs such as will, would, should, could, might, can, and may, are generally intended to identify forward-looking statements. Such forward-looking statements involve known and unknown risks, uncertainties, and other important factors that may cause CENTOGENEs actual results, performance, or achievements to be materially different from any future results, performance, or achievements expressed or implied by the forward-looking statements. Such risks and uncertainties include, among others, negative economic and geopolitical conditions and instability and volatility in the worldwide financial markets, possible changes in current and proposed legislation, regulations and governmental policies, pressures from increasing competition and consolidation in our industry, the expense and uncertainty of regulatory approval, including from the U.S. Food and Drug Administration, our reliance on third parties and collaboration partners, including our ability to manage growth and enter into new client relationships, our dependency on the rare disease industry, our ability to manage international expansion, our reliance on key personnel, our reliance on intellectual property protection, fluctuations of our operating results due to the effect of exchange rates, our ability to streamline cash usage, our requirement for additional financing, or other factors. For further information on the risks and uncertainties that could cause actual results to differ from those expressed in these forward-looking statements, as well as risks relating to CENTOGENEs business in general, see CENTOGENEs risk factors set forth in CENTOGENEs Form 20-F filed on March 31, 2022, with the Securities and Exchange Commission (the SEC) and subsequent filings with the SEC. Any forward-looking statements contained in this press release speak only as of the date hereof, and CENTOGENEs specifically disclaims any obligation to update any forward-looking statement, whether as a result of new information, future events, or otherwise.

Media Contact:

CENTOGENEBen LeggCorporate CommunicationsPress@centogene.com

Lennart StreibelInvestor RelationsInvestor.Relations@centogene.com

Originally posted here:
CENTOGENE Reaches 12,500 Patient Milestone in Worlds Largest Observational Study on Parkinsons Disease Genetics - Yahoo Finance

So maybe its time to take a peek at what scientists around the world are striving to achieve, where developments in the science of genetic development is concerned.

Lets start with the world of plants. There are three main crops responsible for delivering all of the plant-based energy and protein required in the world today. These consumed directly by mankind or fed to livestock in order to produce animal protein.

The crops in question are: wheat, maize (corn) and soya bean. Given Northern Irelands temperate climate, wheat is the one which farmers and consumers will be most familiar with.

So here comes the shocking fact: A first-of-its-kind analysis of the untapped genetic potential of wheat shows global yields are only half of what they could be!

The team of international experts, led from the UKs Rothamsted Research, says this genetic yield gap could be closed by developing wheat varieties tailored to each region.

In other words, by utilising the vast genetic variation available in global and historical wheat gene banks with modern techniques such as speed breeding and gene editing.

Dr Mikhail Semenov and Dr Nimai Senapati, who co-led this study, define a crops genetic yield potential as the highest yield achievable by an idealised variety.

A plant with an optimal genome allows it to capture water, sunlight and nutrients more efficiently than any other.

Dr Semenov said: Current wheat cultivars are, on average, only at the half-way point with respect to the yields they could produce given the mismatches between their genetics and local wheat growing conditions.

Global wheat production could be doubled by the genetic improvement of local wheat cultivars - without increasing global wheat area.

Using existing data on the contribution of different genes to individual plant traits such as size, shape, metabolism and growth, the researchers ranmillions of computer simulations to design perfect wheat plantsthat were tailored to their local environments.

When compared to the performance of locally adapted cultivars, in all cases they found current wheat varieties were underperforming for grain yield, with an obvious genetic yield gap between reality and possibility.

According to Dr Senapati, closing the genetic yield gap would go a long way to feeding the growing world population and would reduce pressure to convert wild habitats to farmland.

Using a state-of-the-art wheat model, called Sirius, the team first calculated the potential yield from a total of 28 commonly used wheat varieties grown at a number of sites around the world, assuming the best possible cultivation conditions for each one.

This gave harvests of less than four tons in Australia and Kazakhstan - compared with 14 tons of wheat produced per hectare in New Zealand.

Next, they designed idealized local varieties within their model, which optimised several plant traits that contribute to yield and whose underlying genetics will allow them to be improved by plant breeders.

Simulations were based on extensive data on the natural genetic variation underpinning the traits.

These included tolerance and response to drought and heat stresses, the size and orientation of the light-capturing upper leaves, and the timing of key life cycle events.

The results showed that by optimizing these key traits, genetic yield gaps could be anywhere from 30-70% across different countries, with a global average genetic yield gap of 51%. Therefore, global wheat production could be doubled by exploiting this existing genetic yield gap towards achieving global food security in a sustainable way.

Not unsurprisingly, the countries with the lowest current yields could gain the most from closing their genetic yield gaps, said Dr Senapati.

That said, even improvements in those countries with a medium genetic yield gap of 40 to 50%, but with a large proportion of the global wheat harvest, would have a substantial effect on global wheat production due to the larger wheat cultivation areas involved.

Meanwhile, here in Ireland, sheep production has been a key focus of genetic research for many years.

In fact, the myriad sources of data now available to Sheep Ireland is allowing the organisation to achieve the role it was created to fulfil on its establishment back in 2009.

This was the core message delivered by Sheep Irelands manager, Kevin McDermott, courtesy of his presentation to the recent EasyCare open evening. The event was held on the Co Antrim farm of Campbell Tweed.

Our aim is to secure balanced breeding goals for the Irish sheep industry, he stressed.

The good news is that the facts expanding network of data sources and real time information available to us is making this possible.

For example, genetic evaluations can be updated on a weekly basis. Making this possible is the fact that Sheep Ireland is a centralised data source for the entire Irish sheep industry.

McDermott particularly highlighted the role that genomics is now playing within Irelands sheep breeding sectors.

He further explained:Being able to genotype sheep brings with it many benefits. At a very fundamental level, it allows us to verify the parentage of pedigree breeding stock.

This is significant, given that up to 8% of pedigree ewes and lambs born in Ireland have been attributed the wrong ancestry, up to this point.

However, genomics opens up a host of new opportunities, when it comes to delivering improved performance at farm level.

McDermott continued:But none of this would be possible without the increasing buy-in of both pedigree and commercial sheep farmers throughout Ireland.

A total of 8 pedigree sheep societies are now using the Sheep Ireland IT system to administer their flockbooks: Belclare, Beltex, Charollais, Galway, Irish Suffolk Sheep Society, Rouge de lOuest, Texel and Vendeen.

The Sheep Ireland representative also confirmed the benefits that will be accrued by farmers using the organisations new phone app.

Essentially, it allows flockowners associated withSheep Irelandto record information about their animals, such as lambing, and growth rates on an almost real-time basis.

Kevin McDermott again: The new app allows farmers to record and submit information reliably and accurately while they are actually out in the field or in sheds.

Gone are the days when recordings are initially written down on paper and then uploaded into the Sheep Ireland once the farmer gets back to his or her office computer. As a result, the margin for error is greatly reduced.

The impact of the continuing progress made by Sheep Ireland over recent years has been significant.

The organisation was designated the responsibility of increasing the rate of genetic gain within the Irish sheep sector by identifying and promoting the use of rams with more profitable and sustainable genetics.

This has been achieved by gathering performance data from the top rams in the country and accessing their strengths and weaknesses using a genetic evaluation which is updated weekly to include any new data.

The results of these genetic evaluations are then displayed in sales catalogues and online in a simple one to five star rating system, allowing sheep farmers to make a more informed breeding decision when selecting their next stock ram.

Looking to the future, Sheep Ireland sees its role as being part of the response from Irish agriculture to the challenge of global warming.

Specifically, the organisation is currently seeking to develop an Estimated Breeding Value (EBV) for sheep, linked to their methane emissions.

Kevin McDermott again: Again, genomics can play a role in this context.

He concluded: All of the work carried out by Sheep Ireland is independently validated. This approach gives sheep producers a very high level of confidence in the performance-related data that we make available.

Dairy is the largest sector within local agriculture at the present time.

There is a growing recognition of the role that improved genetics will play in delivering future sustainability for the milk sector in Northern Ireland.

Technologies including the use of sexed semen and embryo transfer are already making a significant difference in this regard.

Ai Services Breeding Services Manager Ivan Minford takes up the story: Committing to AI has always represented a very small investment relative to the overall costs incurred within any dairy farming business. Feed, fertiliser and energy prices continue to increase at an exponential rate.

Whats more, the development of effective breeding policies has always been the cornerstone of improved herd performance that will continue to deliver for many generations.

In money terms, the size of the initial investment required to make all of this happen is inconsequential, relative to the scale of the benefits accrued.

He continued; And this remains the case. Ai Services has developed a strong working relationship with the worlds premier breeding companies to secure elite dairy genetics at prices that represent unbeatable value for money for local milk producers.

According to the Ai Services representative, an investment in improved genetics will deliver at two fundamental levels for dairy farmers: improved efficiency and improved profitably.

He further explained: Genetics impacts on every impact of cow performance: improved milk production, enhanced milk quality, extended longevity within a milking group and improved health traits to name but a few.

Significantly, all of these factors combine to deliver a smaller carbon footprint and improved sustainability for all dairy farming operations.

Cow size has also been identified as a key factor in determining the carbon footprint of all milk production business.

There is scope to reduce cow size while still maintaining overall animal performance, Minford concluded.

So how does all this fit into the future development of agriculture in Northern Ireland.

Farm Minister Edwin Poots has set out his vision for the future of farm support in Northern Ireland.

Speaking at the Irish National Ploughing Championships in Co Laois, he confirmed that the post-Brexit farm support measures will focus on a number of key themes: recognising the role of active farmers in adopting sustainable production practices, creating the conditions that will provide encouragement for young people coming into the industry and driving up efficiency levels across the industry.

Where beef is concerned, the minister referred to a revolution taking place within the sector, similar to that which has already been effected within the pig and poultry sectors.

He added:The use of improved genetics and the introduction of management systems that drive performance and reduce environmental impacts, particularly greenhouse gas emissions, are priorities for the beef industry.

Edwin Poots concluded:All future support measures will be underpinned by a measurable improvement in farm economic and environmental performance.

So there you have it: improving genetics will play a critically important role as farming in Northern Ireland looks to the future.

And no doubt, this is something that we can all look forward to.

But developing new genotypes and bloodlines is one thing: managing them effectively is another days work entirely!

Read the rest here:
The real power ofimproved genetics - Farming Life

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

See more here:
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.

Here is the original post:
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

View original post here:
SOPHiA GENETICS Unveils Strategy to Drive Health Care Innovations at Inaugural Investor Day Event - GlobeNewswire

September 19, 2022

Contact:Thonnia Lee, Office of Communications, Public Relations and Marketing

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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