Archive for October, 2021

Latest Study on Industrial Growth of Global CRISPR-Based Therapeutics Market 2021-2027. A detailed study accumulated to offer Latest insights about acute features of the CRISPR-Based Therapeutics market. The report contains different market predictions related to revenue size, production, CAGR, Consumption, gross margin, price, and other substantial factors. While emphasizing the key driving and restraining forces for this market, the report also offers a complete study of the future trends and developments of the market. It also examines the role of the leading market players involved in the industry including their corporate overview, financial summary and SWOT analysis.

The Major Players Covered in this Report: Caribou Biosciences, Addgene, CRISPR THERAPEUTICS, Merck KGaA, Mirus Bio LLC, Editas Medicine, Takara Bio USA, Thermo Fisher Scientific, Horizon Discovery Group, Intellia Therapeutics & GE Healthcare Dharmacon

CRISPR-Based Therapeutics Market Study guarantees you to remain / stay advised higher than your competition. With Structured tables and figures examining the CRISPR-Based Therapeutics, the research document provides you a leading product, submarkets, revenue size and forecast to 2027. Comparatively is also classifies emerging as well as leaders in the industry.Click To get SAMPLE PDF of CRISPR-Based Therapeutics Market (Including Full TOC, Table & Figures) @https://www.htfmarketreport.com/sample-report/3176523-global-crispr-based-therapeutics-market-growth

This study also covers company profiling, specifications and product picture, sales, market share and contact information of various regional, international and local vendors of Global CRISPR-Based Therapeutics Market. The market proposition is frequently developing ahead with the rise in scientific innovation and M&A activities in the industry. Additionally, many local and regional vendors are offering specific application products for varied end-users. The new merchant applicants in the market are finding it hard to compete with the international vendors based on reliability, quality and modernism in technology.

Read Detailed Index of full Research Study at @https://www.htfmarketreport.com/reports/3176523-global-crispr-based-therapeutics-market-growth

The titled segments and sub-section of the market are illuminated below:In-depth analysis of Global CRISPR-Based Therapeutics market segments by Types: , Genome Editing, Genetic Engineering, gRNA Database/Gene Librar, CRISPR Plasmid, Human Stem Cells, Genetically Modified Organisms/Crops & Cell Line EngineeringDetailed analysis of Global CRISPR-Based Therapeutics market segments by Applications: Biotechnology Companies, Pharmaceutical Companies, Academic Institutes & Research and Development Institutes

Major Key Players of the Market:Caribou Biosciences, Addgene, CRISPR THERAPEUTICS, Merck KGaA, Mirus Bio LLC, Editas Medicine, Takara Bio USA, Thermo Fisher Scientific, Horizon Discovery Group, Intellia Therapeutics & GE Healthcare Dharmacon

Regional Analysis for Global CRISPR-Based Therapeutics Market: APAC (Japan, China, South Korea, Australia, India, and Rest of APAC; Rest of APAC is further segmented into Malaysia, Singapore, Indonesia, Thailand, New Zealand, Vietnam, and Sri Lanka) Europe (Germany, UK, France, Spain, Italy, Russia, Rest of Europe; Rest of Europe is further segmented into Belgium, Denmark, Austria, Norway, Sweden, The Netherlands, Poland, Czech Republic, Slovakia, Hungary, and Romania) North America (U.S., Canada, and Mexico) South America (Brazil, Chile, Argentina, Rest of South America) MEA (Saudi Arabia, UAE, South Africa)

Furthermore, the years considered for the study are as follows:Historical year 2015-2020Base year 2020Forecast period** 2021 to 2027 [** unless otherwise stated]

**Moreover, it will also include the opportunities available in micro markets for stakeholders to invest, detailed analysis of competitive landscape and product services of key players.

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Key takeaways from the Global CRISPR-Based Therapeutics market report: Detailed considerate of CRISPR-Based Therapeutics market-particular drivers, Trends, constraints, Restraints, Opportunities and major micro markets. Comprehensive valuation of all prospects and threat in the In depth study of industry strategies for growth of the CRISPR-Based Therapeutics market-leading players. CRISPR-Based Therapeutics market latest innovations and major procedures. Favorable dip inside Vigorous high-tech and market latest trends remarkable the Market. Conclusive study about the growth conspiracy of CRISPR-Based Therapeutics market for forthcoming years.

What to Expect from this Report On CRISPR-Based Therapeutics Market:1. A comprehensive summary of several area distributions and the summary types of popular products in the CRISPR-Based Therapeutics Market.2. You can fix up the growing databases for your industry when you have info on the cost of the production, cost of the products, and cost of the production for the next future years.3. Thorough Evaluation the break-in for new companies who want to enter the CRISPR-Based Therapeutics Market.4. Exactly how do the most important companies and mid-level companies make income within the Market?5. Complete research on the overall development within the CRISPR-Based Therapeutics Market that helps you elect the product launch and overhaul growths.

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Detailed TOC of CRISPR-Based Therapeutics Market Research Report-

CRISPR-Based Therapeutics Introduction and Market Overview CRISPR-Based Therapeutics Market, by Application [Biotechnology Companies, Pharmaceutical Companies, Academic Institutes & Research and Development Institutes] CRISPR-Based Therapeutics Industry Chain Analysis CRISPR-Based Therapeutics Market, by Type [, Genome Editing, Genetic Engineering, gRNA Database/Gene Librar, CRISPR Plasmid, Human Stem Cells, Genetically Modified Organisms/Crops & Cell Line Engineering] Industry Manufacture, Consumption, Export, Import by Regions (2015-2020) Industry Value ($) by Region (2015-2020) CRISPR-Based Therapeutics Market Status and SWOT Analysis by Regions Major Region of CRISPR-Based Therapeutics Marketi) Global CRISPR-Based Therapeutics Salesii) Global CRISPR-Based Therapeutics Revenue & market share Major Companies List Conclusion

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CRISPR-Based Therapeutics Market Analysis, Size, Strategic Assessment, Market Growth and Forecasts to 2027 Puck77 - Puck77

CRISPR in agriculture market includes biological techniques that have been utilized in a wide variety of plant species to improve agricultural traits. Due to the deterioration of air quality, the health of soils, and adverse climate change CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) has been implemented to improve crop yields.

The agriculture sector is one of the potential sectors that utilize CRISPR technology to increase the production of crops. The CRISPR processes in which specified enzymes have been modified can remove DNA from a genome that is different from the genetically modified organisms (GMOs).

According to FSA (Federation of American Scientists), NIH had sanctioned funds with the value of approximately $1,155.4 million in 2020 respectively for the CRISPR related research activities and projects.

Report Consultant has published an innovative statistical data, titled as CRISPR in Agriculture market. This report has been aggregated with different market segments, such as applications, end-users and revenue. It focuses on the analysis of the existing market and upcoming innovations, to provide better insights for the businesses. This study includes the elaborative description of CRISPR in Agriculture market along with the different perspectives from various industry experts.

Ask For 40% [emailprotected]https://www.reportconsultant.com/ask_for_discount.php?id=77685

Top Key Players:Bayer AG, Benson Hill Biosystems, Inc., Caribou Bioscience Inc., CRISPR Therapeutics, Horizon Discovery Group PLC, Intellia Therapeutics Inc., Yield10 Biosciences Inc., and so on.CRISPR in Agriculture Market By End-UserAcademic & Research InstitutesBiotech Companies

CRISPR in Agriculture Market By Target TypeCropsLivestockAquaculture

The genetic editing technology in CRISPR has brought multiple benefits to the food and agricultural industry that improves the productivity of fermentation processes. The development of abiotic stress-tolerant crop plants in the tropics by using the technology of CRISPR such as drought, soil salinity, heat stress that significantly limit the yield of crops across the globe. The CRISPR increases the demand of genome-editing for emerging diseases and pests in tropical regions that has opened a new opportunity for rapid development of disease resistant crop varieties by deletion of susceptibility.

Different regions, such as North America, Latin America, Japan, China, Asia Pacific, and India are considered to examine the facts of the leading key players. Through quantitative and qualitative analysis, this report has summarized about the significant pillars that can boost the performance of different industries.Get a Sample Copy of this CRISPR in Agriculture Market report now! @https://www.reportconsultant.com/request_sample.php?id=77685

CRISPR in Agriculture Market Research objectives1. To study and analyze the CRISPR in Agriculture market size by key regions/countries, product type and application, history data from 2016 to 2020, and forecast to 2028.2. To understand the structure of the CRISPR in Agriculture market by identifying its various sub-segments.3. To analyze the CRISPR in Agriculture concerning individual growth trends, prospects, and their contribution to the total market.4. To share detailed information about the key factors influencing the growth of the market (growth potential, opportunities, drivers, industry-specific challenges and risks).

5. To project the size of CRISPR in Agriculture sub-markets, concerning key regions (along with their respective key countries).6. To analyze competitive developments such as expansions, agreements, new product launches and acquisitions in the market.7. To strategically profile the key players and comprehensively analyze their growth strategies.

A substantial study of the market strategies, challenges, prospects for advancements along with a detailed introspection of prominent aspects affecting the market is included in this report. It also sheds light upon the ongoing developments in this field as well as prevailing strategies to thrive in such a continually evolving market. To conclude with, this report covers all the necessary financial, economic and social factors relevant to the industry, thus enhancing a readers ability to understand the information required to make an informed decision.Customization Service of the Report:Report Consultant provides customization of reports as per your need. This report can be personalized to meet your requirements. Get in touch with our sales team, who will guarantee you to get a report that suits your necessities.Contact us:Rebecca Parker(Report Consultant)Contact No: +81-368444299[emailprotected]www.reportconsultant.comAbout Report Consultant:Report Consultant A global leader in analytics, research and advisory that can assist you to renovate your business and modify your approach. With us, you will learn to take decisions intrepidly. We make sense of drawbacks, opportunities, circumstances, estimations and information using our experienced skills and verified methodologies.Our research reports will give you an exceptional experience of innovative solutions and outcomes. We have effectively steered businesses all over the world with our market research reports and are outstandingly positioned to lead digital transformations. Thus, we craft greater value for clients by presenting advanced opportunities in the global market.

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CRISPR in Agriculture Market to Exhibit Robust Growth in Forthcoming Period 2021- 2028 With Prominent Players: Bayer AG, Benson Hill Biosystems, Inc.,...

Detailed study and analysis of the Global CRISPR Technology Market highlights new trends in the CRISPR Technology industry and provides companies with trading insights. This study helps manufacturers, suppliers and investors, CEOs to identify opportunities and business optimization strategies to improve their value in the global CRISPR Technology market. Provides important information for well-known companies that are one of the top performing companies. The report provides comprehensive coverage of existing and potential markets as well as an assessment of competitiveness in changing market scenarios.

The report also presents data in the form of charts, tables and figures together with contact details and sales contact information for the major market players in the global market. There is a detailed overview of the competitive landscape of the global CRISPR Technology industry, with all the information gathered and deepened with the SWOT analysis. Opportunities for potential industrial growth have been discovered and the competition risks involved have also been structured.

Get FREE Sample copy of this Report with Graphs and Charts at:https://reportsglobe.com/download-sample/?rid=282174

The segmentation chapters enable readers to understand aspects of the market such as its products, available technology and applications. These chapters are written to describe their development over the years and the course they are likely to take in the coming years. The research report also provides detailed information on new trends that may define the development of these segments in the coming years.

CRISPR Technology Market Segmentation:

CRISPR Technology Market, By Application (2016-2027)

CRISPR Technology Market, By Product (2016-2027)

Major Players Operating in the CRISPR Technology Market:

Company Profiles This is a very important section of the report that contains accurate and detailed profiles for the major players in the global CRISPR Technology market. It provides information on the main business, markets, gross margin, revenue, price, production and other factors that define the market development of the players studied in the CRISPR Technology market report.

Global CRISPR Technology Market: Regional Segments

The different section on regional segmentation gives the regional aspects of the worldwide CRISPR Technology market. This chapter describes the regulatory structure that is likely to impact the complete market. It highlights the political landscape in the market and predicts its influence on the CRISPR Technology market globally.

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The Study Objectives are:

This report includes the estimation of market size for value (million USD) and volume (K Units). Both top-down and bottom-up approaches have been used to estimate and validate the market size of CRISPR Technology market, to estimate the size of various other dependent submarkets in the overall market. Key players in the market have been identified through secondary research, and their market shares have been determined through primary and secondary research. All percentage shares, splits, and breakdowns have been determined using secondary sources and verified primary sources.

Some Major Points from Table of Contents:

Chapter 1. Research Methodology & Data Sources

Chapter 2. Executive Summary

Chapter 3. CRISPR Technology Market: Industry Analysis

Chapter 4. CRISPR Technology Market: Product Insights

Chapter 5. CRISPR Technology Market: Application Insights

Chapter 6. CRISPR Technology Market: Regional Insights

Chapter 7. CRISPR Technology Market: Competitive Landscape

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CRISPR Technology Market Size 2021 Key Strategies, Applications, Trends and Opportunities | Top Brands: Thermo Fisher Scientific, Merck KGaA,...

Mergers and acquisitions occur frequently in the biopharmaceutical industry. And there are often rumors of other deals that never materialize. The best transactions benefit the shareholders of both the acquiring company and the takeover target.In this Motley Fool Live video recorded on Oct. 13, Fool contributors Keith Speights and Brian Orelli discuss potential biotech buyouts that would be great for investors.

Keith Speights: All right, Brian. Now, let's take a speculative twist in our discussion about acquisitions. We've just talked about two deals that have been announced this week. But Brian, is there a biotech buyout that you would really like to see? Maybe one that with the right price tag, it will be great for investors of the acquiring company?

Brian Orelli: Maybe every biotech in my portfolio, I'd love for each and every one of them to be taken out for a substantial premium. I don't know. There's some people who say that they're disappointed because a company got taken out because they'd rather own the company and profit from the growth of that company individually.

But the way I see it, there's plenty of biotechs in the sea to reinvest those profits. If you're going to give me a quick up-front profit, I'm definitely going to take it and I'm not going to complain about it.

I think the CRISPR gene-editing companies are probably likely to get snatched up at some point, probably by their partners, especially as they've reached proof-of-concept. I'm thinking Intellia (NASDAQ:NTLA) potentially being acquired by Regeneron (NASDAQ:REGN), and CRISPR Therapeutics (NASDAQ:CRSP) potentially being acquired by Vertex Pharmaceuticals (NASDAQ:VRTX).

I think these would be great for the investors, mostly because I think maybe their valuations are a little inflated. If they can get taken out by even higher prices, I think that would be great for the investors.

I own Vertex so I certainly don't want Vertex overpaying for CRISPR Therapeutics. Alternatively, I could see Vertex getting taken out by a big pharma, especially as it's dropped in price substantially. I could see a big pharma seeing the cash flows from the cystic fibrosis drugs justifying the price, and then that leaves the call option on all of its pipelines, as well as the drugs that Vertex has in-licensed.

Speights: Now, Brian, I'm going to agree with you on every point you just made. No. 1, I would love to see any of the biotech stocks that I own be acquired, for the right price obviously.

No. 2, I agree with you that the CRISPR gene-editing companies are probably near the top of the list of potential acquisition targets over the next few years. I also agree with you that Vertex, if there's going to be one of those massive big pharma mergers like we've seen over the last 20 years, some of those massive deals, I think Vertex would be an excellent candidate to be acquired by a bigger company.

I'm not sure. We'll see if that happens, but I think it would be one of the top megamerger acquisition candidates that are on the market right now.

Orelli: I think a pharma that wanted a lot of cash flow, but also wanted to boost up their pipeline, Vertex probably has more external deals than it has internal candidates. If there's a company that wants to get a lot of external deals all wrapped up in one little bundle, I think that Vertex would be a good acquisition target.

This article represents the opinion of the writer, who may disagree with the official recommendation position of a Motley Fool premium advisory service. Were motley! Questioning an investing thesis -- even one of our own -- helps us all think critically about investing and make decisions that help us become smarter, happier, and richer.

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Biotech Buyouts That Would Be Great for Investors - Motley Fool

H. Lundbeck A/S (Lundbeck) announced that it has entered into a definitive agreement with AprilBio Co., Ltd. (AprilBio), a biopharmaceutical company based in South Korea dedicated to developing specialized biologics and antibody drugs.

Under the agreement between the two companies, Lundbeck receives exclusive, worldwide rights to research, develop and commercialize APB-A1, a novel and well-differentiatedanti-CD40 ligand (CD40L) antibody-like drug candidate,readyfor phase I testing around the beginning of 2022. This novel drug candidate offers significant potential across a wide array of neuroimmune diseases.

Dr. Johan Luthman, EVP and Head of Research & Development in Lundbeck, said:

"I am excited to announce this partnership with AprilBio around their interesting novel anti-CD40L antibody-like molecule that accelerates our R&D strategy within neuroimmunology, one of our four strategic biological focus areas. Based on promising preclinical data, this project has the potential to offer new, potent and differentiated therapies for several different types of neuroimmune diseases".

The agreement enables Lundbeck to initiate clinical activities targeting the neuroimmune system. The concept is built on a biology that has proven its ability to therapeutically target diseases of the central nervous system. APB-A1 will accelerate internal experience and expertise that in turn will enable building a broader pipeline for Lundbeck in this area.

"We are also glad to join hands with Lundbeck, which leads the global brain disease treatment industry," AprilBio CEO Dr. Sang-hoon Cha said in a statement. "We expect that possibilities to successfully develop a new drug for treating multiple neuroimmune diseases will increase through this partnership."

Under the terms of the license agreement, Lundbeck will make a one-time payment to AprilBio of USD 16 million in cash. In addition, Lundbeck will pay AprilBio success-based development, regulatory, and sales milestone payments of up to USD 432 million related to APB-A1. Lundbeck will also pay AprilBio tiered royalty payments with the highest tier reaching low double-digit percentage of net sales. Lundbeck will be responsible for all future development activities and expenses related to the project.

About APB-A1APB-A1 is a neutralizing anti-CD40L antibody-like drug candidate with an innovative molecular design blocking the essential CD40L/CD40 co-stimulatory interaction. The activation of the CD40L/CD40 signaling cascade is essential for the initiation of cellular and humoral immune responses. It is an established and clinically validated immune pathway through its ability to trigger activation, differentiation and proliferation of B-cells, T-cells, and several other immunes cells (such as monocytes, macrophages, dendritic cells, natural killer cells) to mediate immune responses. Modulating the CD40L/CD40 interaction therefore holds great promise for treatment of a wide range of autoimmune related CNS disorders and neurological diseases.

APB-A1 is a human, high affinity, anti-CD40L antibody-like fusion protein that is designed to inhibit the CD40L/CD40 pathway through neutralization of CD40L presented on activated T-cells, and consequently significantly attenuating the initiated immune response. In preclinical studies, APB-A1 has demonstrated engagement with CD40L leading to decreased antibody response and circulating inflammatory markers. One of the differentiating aspects of the APB-A1 design is its ability to utilize human serum albumin for half-life extension translating into superior clinical features.

About AprilBioAprilBio Co., Ltd. is a biopharmaceutical company in South Korea founded in 2013. The company is specialized in development of specialized biologics and antibody drugs. The company's platform technologies include a human phage-display Ab library and Anti-Serum Albumin Fab-Associated (SAFA) technology (versatile building block for half-life extension and generation of novel biological therapeutics). AprilBio is focused on rare diseases, oncology, autoimmune and inflammatory diseases.

Contacts

About H. Lundbeck A/SH. Lundbeck A/S (LUN.CO, LUN DC, HLUYY) is a global pharmaceutical company specialized in brain diseases. For more than 70 years, we have been at the forefront of neuroscience research. We are tirelessly dedicated to restoring brain health, so every person can be their best.

Too many people worldwide live with brain diseases - complex conditions often invisible to others that nonetheless take a tremendous toll on individuals, families and societies. We are committed to fighting stigma and discrimination against people living with brain diseases and advocating for broader social acceptance of people with brain health conditions. Every day, we strive for improved treatment and a better life for people living with brain disease.

We have approximately 5,600 employees in more than 50 countries, and our products are available in more than 100 countries. Our research programs tackle some of the most complex challenges in neuroscience, and our pipeline is focused on bringing forward transformative treatments for brain diseases for which there are few, if any therapeutic options. We have research facilitiesin Denmark and the United States, and our production facilities are located in Denmark, France, and Italy. Lundbeck generated revenue of DKK 17.7 billion in 2020(EUR 2.4billion; USD 2.7billion).

For additional information, we encourage you to visit our corporatesitewww.lundbeck.comand connect with us on Instagram (h_lundbeck), Twitter at@Lundbeckand viaLinkedIn.

H. Lundbeck A/S

Ottiliavej 9, 2500 Valby, Denmark

+45 3630 1311

info@lundbeck.com

https://news.cision.com/h--lundbeck-a-s/r/lundbeck-receives-exclusive-rights-to-apb-a1--an-innovative-phase-i-ready-bio-therapeutic-for-the-tr,c3432091

https://mb.cision.com/Main/18215/3432091/1480764.pdf

(c) 2021 Cision. All rights reserved., source Press Releases - English

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H Lundbeck A/S : Lundbeck receives exclusive rights to APB-A1, an innovative phase I-ready bio-therapeutic for the treatment of neuroimmune diseases...

The summer before she started her neuroscience degree at the University of Texas, Celine Halioua interned at a clinic in Germany, working with patients who had age-related brain cancer. She formed a bond with one of them. He had a large, bushy moustache and a permanent smile the picture of a kind father, she told me. My German was not great, and neither was his English, but what struck me was his kindness despite the fact he was there to discuss his terminal diagnosis.

Halioua was shadowing a doctor, and found it hard to grasp that nothing could be done for this patient. I always thought that doctors were magical that if you put the effort in, youd be able to fix it. The realisation that you cant made me feel that we dont have free will.

She resolved to find that fix: not a cure for cancer, but an end to ageing itself. Now, at only 26, Halioua is a leading light in the relatively new field of anti-ageing biotech. Im confident well have an ageing drug by the time its relevant for me, she told me. She estimated that time as within a decade, and aims to dominate the market before then. Transparently, my goal is to build the ageing pharma company there will be many. The ageing field will one day be larger than the cancer field. Halioua described ageing as deviation from optimal biological function. Optimal is subjective, of course: Olympic gymnasts peak at a much younger age than Olympic sprinters. Old is easier to define: Halioua described it as when the physical body gets in the way of the thing that you want to do.

Haliouas speech was so rapid that the internet connection from her office in San Francisco could barely keep up. She looked every inch the digital nomad in her black T-shirt and AirPods: part biogerontologist, part CEO, part Gen Z-er. Haliouas mother is Moroccan and her father German; she was born in Texas but studied in Sweden, Germany and the UK, and dropped out of her PhD at Oxford University and began to work for the venture capitalist Laura Deming, now 27, at the California-based Longevity Fund, a firm that invests in anti-ageing businesses. Halioua launched her own start-up in 2020.

The quest for eternal youth may not be new, but it is now bankrolled by some of the wealthiest individuals and corporations on Earth. PayPal co-founder Peter Thiel and Oracles Larry Ellison are among the many billionaires who are investing. Google founders Sergey Brin and Larry Page helped launch Calico, a Google subsidiary focused on combating ageing, in 2013. Amazon founder Jeff Bezos is in the game: not long after touching down from his maiden space flight in July, he was reported to have invested an undisclosed sum in Russian billionaire Yuri Milners Altos Labs, which will have a research base in Cambridge, UK (most anti-ageing start-ups are in the US). It is estimated that the industry will be worth $610bn by 2025.

[See also: The internet was built for connection how did it go so wrong?]

The field shouldnt be confused with the kooky subculture of life extensionism, whereby the determined and ascetic experiment with severe calorie restriction, intensely calibrated exercise and cocktails of daily supplements in a bid to extend a life that is arguably not worth living. Instead, anti- ageing science works at the level of gene therapy, cell hacking and reconstituting human blood; the medical treatments at its heart are based on bleeding edge science and aimed at the mass market. Some focus on biological reprogramming: adding proteins known as Yamanaka factors to cells, causing them to revert to a previous state. Others look at genomic instability or the way DNA damage that accumulates over time might be repaired.

The entrepreneurs in this fledgling field are determined that the end of ageing will come via therapies approved by the US Food and Drug Administration (FDA) and the European Medicines Agency (EMA). The elixir of youth wont be a single drug, but a regimen of treatments that knock out different hallmarks of ageing and allow us to get older without losing our bodies and minds. We will still die: there will be accidents as well as diseases unrelated to age (children still get fatal cancers, after all). But death will become increasingly remote, and no longer preceded by years of inevitable decline.

Its advocates argue that, once ageing is cured, the financial, medical, societal and emotional burden of taking care of the elderly will disappear. But have these entrepreneurs thought about what a post-ageing world would look like? And if they have, would anyone want to live there?

As it stands, a drug will only get regulatory approval if it is marketed as a treatment for age-related diseases such as arthritis, cataracts and macular degeneration, diabetes, certain cancers, dementia and Parkinsons rather than ageing in its own right. This, then, is where the science is focused. The thinking is that, if the ageing processes that underlie those diseases are treated, other rejuvenation benefits can be smuggled in.

Based in San Francisco, Unity Biotechnology is developing a class of anti-ageing drugs called senolytics. These work by eradicating senescent cells those that have stopped dividing and then gather in the body, spewing out factors that harm the surrounding tissue. Its a completely new way both of thinking about a disease and targeting it, Anrivan Ghosh, Unitys CEO, told me. Senolytics reprogramme the tissue. They raise the possibility that I can restore a previous state that a tissue or a body was in. It was first thing in the morning for Ghosh (we were speaking over Zoom), but he was fizzing with enthusiasm. He is 57 but looks younger, with a neat goatee and hair that is only flecked with grey.

Senolytic drugs are designed to be taken prophylactically, during what Ghosh refers to as a window of time when senescent cells are known to accumulate (this varies in different parts of the body). He was keento tell me about Unitys ongoing clinical trial in people with age-related eye disease the first evidence of a senolytic treatment working, he said. Twelve patients with severe vision loss due to macular degeneration or diabetic macular oedema (two of the major causes of age-related blindness) had been put on a course of Unitys lead senolytic. One of the patients could not see any letters on an eye chart, even with her glasses on, from four metres away. Everything she once needed help with, she can now do independently. The majority of those patients showed an improvement.

I would have been happy if they just maintained their vision, Ghosh said. It raises the possibility that you may somehow be able to reverse trajectory and restore a better state. Thats another level.

[See also: The fidget business]

Unity was an early success story, with Peter Thiel and Jeff Bezos signing up as seed investors. People like Thiel and Bezos arent interested in financing the kind of incremental gains a next-generation medicine might offer, Ghosh told me. They are drawn to the idea of being able to do something that changes the way we think about disease, that changes the way we live. Over time, Unitys funding has come increasingly from bigger, more mainstream investors.

Promising paradigm change can be a risky business. Unity was valued at $700m at its initial public offering in May 2018, but shares fell by more than 60 per cent in August 2020 after its flagship product, a senolytic treatment for osteoarthritis of the knee that had worked on mice, was shown to have no greater effect than a placebo in human trials. It tells you something about the translational gap in that case sometimes the animal studies do not replicate in the human case, Ghosh said. There will be many bumps before we have success.

Up to 30 biotech companies around the world are developing senolytic drugs. British biogerontologist and computational biologist Andrew Steele, who wrote his book Ageless: The New Science of Getting Older Without Getting Old (2020) while studying nematode worms at the Francis Crick Institute in London, told me he thought we were two or three years away from having the first senolytics in the clinic for specific conditions. It could be within a decade that were using these things preventatively. Like most other advocates, Steele was ambitious about the timeframe, given the relatively small number of human trials.

Ageing isnt officially defined as a disease, which is a problem for the biotech companies, Steele explained. Its currently very difficult to get a drug approved because it isnt an indication in the pharmaceutical industry. That means theres no way to say, Ive reversed or slowed someones ageing. But he remained optimistic. Were in a position, unique in human and scientific history, where weve finally got a handle on the processes. Unless youre very old or very, very unwell, theres going to be an anti-ageing drug in time for you.

For Steele, who is 36, this cant come soon enough. We have been completely ignoring the single largest cause of death, human disease and suffering, he told me. I dont think barbaric is too strong a word. Being old steals your independence: its what puts you at risk of all kinds of things not just the internal stuff like cancer and heart disease, but external threats like falls, infectious disease.

Steele told me about some 24-month-old mice (around 70 in human years) he had observed in a lab while researching his book. After a dose of senolytics, the mice thrived. They get less cancer, fewer cataracts, fewer heart problems, they are fitter and less frail, he said. Theyre cognitively younger as well. And they have better fur, thicker, plumper skin, less grey hair they just look fantastic.

Celine Halioua doesnt have to worry about the translational gap between mice and humans. She left the world of longevity venture capital in 2019 to become founder and CEO of Loyal, a biotech start-up dedicated to extending dog lifespan. It aims not simply to stretch the length of time a dog can live anything from an extra six months to three years, depending on the breed but to ensure that those months and years are healthy. (Halioua herself is a devoted dog owner, and lists her husky, Wolfie, as the companys chief evangelist on the Loyal website.) But dogs are just the beginning. Were planning to take what we learn in dogs to help pet parents and non-pet parents live longer, too, she told me.

Dogs develop the same age-related diseases as we do, Halioua explained, at approximately the same point in their life-span (the exception being heart disease, because they dont eat a lot of McDonalds or whatever). Their fur loses pigment and goes grey, just like their owners hair. They share an environment with us, and environmental factors are huge in ageing. Its also possible to see whether an intervention is working much sooner in dogs than in humans: You can do a preventative measure when theyre two or three, and youll know by six or seven, probably sooner, whether the intervention did or did not do the thing. Dogs will make the pathway to regulatory approval smoother, Halioua believes. If something can work in a complex species like a dog, that isnt super-inbred like a mouse, its a more robust justification to pursue that in people.

Significantly, dogs have devoted owners who are prepared to pay over the odds though Halioua said she was determined not to exploit that devotion. It is important to me to price our products so that they are accessible for the majority of dog owners. The final cost will depend on the materials but, order of magnitude tens, not hundreds, of dollars a month.

The first of two Loyal drugs in development targets cellular mechanism and glucose metabolism in large- and giant-breed dogs. Due to a quirk of animal husbandry, the larger the dog, the shorter its lifespan. A Great Dane might live seven to nine years on average, while a Chihuahua might live 16 to 18. Thats weird. You normally dont see a times-two differential in lifespan within the same species you dont see it in people of varying heights. This, Halioua explained, was due to an antagonistic pleiotropic effect: the thing that caused the dog to grow big quickly has a negative impact on lifespan.

The second drug targets metabolic fitness in dogs of any breed and size, in order to replicate the same effect on lifespan that calorie restriction does in mice. This will be better for late-in-life intervention. Of course, prevention is optimal, but there are people who already have grey-faced dogs and we wanted to have something for them. Trials are due to begin next year.

Other anti-ageing therapies have emerged from more gruesome animal experimentation. The biotech company Elevian, founded in Silicon Valley but now based in Boston, began 15 years ago after Harvard professor of regenerative biology Amy Wagers stitched live mice together, fusing the circulatory systems of old and young specimens, in a process called parabiosis. The mice lived fused together for four weeks before their organs were removed and studied. Elevians CEO and co-founder, Mark Allen, described an experiment that sounded like Frankenstein and Dracula combined: The old mice exposed to young blood grow biologically younger by many different measures, and the young mice exposed to old blood grow older.

[See also: The spirit of the age: Why the tech billionaires want to leave humanity behind]

A 51-year old medical doctor turned tech entrepreneur, Allen told me he had read about Wagers work and thought it might be turned into a therapy. But its not an easy thing to translate. In the parabiosis model, the old animals are getting a continuous transfusion of young blood, 24/7, for four weeks. You cant really have a blood boy tied to you, he said, with a dark grin.

The Harvard team identified the recombinant protein GDF11, the critical factor circulating in blood that appears to be behind the rejuvenating effect. Just injecting GDF11 once daily was able to reproduce many of the different effects, Allen said. I fell in love with this work because of the breadth of effect. He reeled off a list of diseases that GDF11 might combat: emphysema, cardiovascular disease, fatty liver disease and potentially some cancers.

Still, Elevian had to choose one specific indication they could tell regulators they were targeting, and decided its best bet was stroke: the worst possible disease that we could treat for the shortest possible duration, and see clinically meaningful effects, Allen said. Stroke is the second biggest cause of death worldwide and a leading cause of long-term disability; the few treatments that currently exist need to be given within a few hours after a stroke if they are to be effective.

Allen said animal trials were looking positive. When we give GDF11 after a stroke, it significantly improves sensory motor function recovery. And we can give it late we can start it 24 hours or later when no other treatments exist. Our primary focus today is taking it into clinical trials. For Allen, this would be the start of something more ground-breaking. Part of the game is getting it to market as soon as possible and then beginning to expand its indication.

The entrepreneurs I speak to might be taking different paths to eternal youth, but they agree on one thing: ultimately, ageing will be cured. None wants to hazard a guess at how long people will live there may be some yet unknown physical side effect that we discover in our 200s but they believe the only obstacle to an infinite human lifespan is our inability to imagine what that might look like. This means that the potential negative effects can only be raised delicately. The ageing process causes two thirds of death globally, Steele reminded me. Any objection you want to come up with to say we shouldnt do something about it has to be larger than that.

But Paul Root Wolpe, 64, director of the centre for ethics at Emory University in Georgia in the USA (and a former senior bioethicist at Nasa), told me that a world without ageing would be an economic disaster. The argument some advocates make for its enormous social benefits is a misdirection, he said. I find their arguments extremely naive, sociologically unsupportable, and most importantly, deeply narcissistic. Ive never heard a single plausible argument of how radical life extension would benefit society only an egocentric desire not to die. The truth is, they want to stop ageing. They want to live healthily to 150.

In Wolpes view, anti-ageing scientists and entrepreneurs minimise or ignore the profound implications of significantly increasing the human lifespan. The International Monetary Fund has stated that an ageing population in Japan has led to a vanishing labour force, higher demands for social services, a shrinking tax pool, greater wealth disparities and thats just from living what is currently our lifespan. If we increase it, all of those things would increase exponentially.

But in the future envisaged by the biotech start-ups, we would work into our hundreds: an elderly population would still be a labour force. Wolpe had little patience for this idea. That is a profoundly elite perspective. Do you really think that the longshoreman, the hard labourer, the person who works as a clerk in a store, at the age of 65 is going to say, Great! I get to work for another 50 years! Its absurd. Polls show that large percentages of people hate their job. Elitists who work entirely with their brains are a small minority of the human population. They have a very blinkered point of view. It was no coincidence that Silicon Valleys tech billionaires were early investors, Wolpe said. This is one of the great scientific, intellectual areas to conquer. These people have already conquered the world in new ways. They are the first group to touch the lives of hundreds of millions, if not billions, of people. They have so much cash, and they dont know what to do with it.

The political ramifications of an indefinite lifespan are equally huge, Wolpe argued. The elderly vote at much higher rates than the young, and, in America at least, the highest echelons of power have become the preserve of the over-70s. Politically, young people will be squeezed, and the fresh ideas they bring to politics and innovation more generally will be suppressed.

Do you think that if the last generation or the generation before that lived to 100 or 150, there would be gay marriage, diversity inclusion movements, #MeToo? Wolpe said. The vast majority of the great innovations of the last 50 years were created by young people. A life well-lived hands its torch to the next generation. It doesnt try to override them for its own narcissistic needs.

Overpopulation and the climate crisis are other obvious counter-arguments. If death becomes rare, and humans remain at optimal health, how soon will the world run out of space and resources? Wont humans die from starvation and natural disasters instead?

[See also: Toxic relationships, burnout, productivity dysmorphia why do we medicalise societal problems?]

This is not a technology in isolation, Allen argued when I put this to him. Were figuring out how to have cleaner energy, how to have food that is healthier and less polluting, how to live more peacefully, how to travel into space. There is not a real estate problem here on Earth if we live better. Its an argument typical of Silicon Valley optimism: the solution is always more tech.

Im sanguine about overpopulation, Steele told me. If we had to work a little bit harder to solve things like climate change, resource use, land use and all those things that Im genuinely concerned about, Id happily do so if it meant suddenly no one was dying of cancer or Alzheimers.

Both Steele and Halioua dismissed the idea that indefinite fertility would lead to a population crisis, seeing it instead as an opportunity for a fairer world. Halioua pointed out that, if women want to have children, they are currently forced to make compromises at a critical time in their careers. Im going to be in my thirties soon, theoretically the ideal age to have kids, and Im not going to want kids at that age hopefully I will still be building Loyal. Thats a societal pressure that men dont have. [This] will free up 50 per cent of the population who inevitably have to take the hit.

Already, the wealthy live longer: men in the most deprived areas of England can expect to lead lives nearly a decade shorter than those in the wealthiest parts. Anti-ageing drugs will surely amplify these inequalities, when only the individuals and nations that can afford them can buy ever longer life-spans. Halioua said she had factored these concerns into her development plans: The ideal ageing drug is going to be like a statin, in terms of not being expensive. Steele added that this was a long game: expensive drugs have patents that expire after 20 years, after which generic drugs can be made at a fraction of the cost. Im not saying its right, but its normal for rich people in the West, and then everyone in the West, and then poorer countries to benefit from various kinds of medical intervention.

[See also: How life without germs has left us newly vulnerable]

I asked the anti-ageing entrepreneurs about Wolpes point that longer lives will increase intergenerational inequalities. In a future where people keep their minds and bodies, never losing their edge, how will the young ever compete in the workplace?

That kind of thinking assumes that if people were to live in good health for a very long period of time they would want to continue to do the same things, Ghosh said. I know I would not want to do drug discovery for the next 30 years. I have a bazillion other things Id like to do, and I would happily let other people take this role.

Halioua took the question personally. With Loyal, there are plenty of people who are double my age, in their 40s and 50s, completely cognisant, who have been working in ageing a long time, and didnt have the idea or desire to build this company, she said. Experienced people come with baggage and biases. Being naive has actually been one of my best traits, she said. In other words, the young will still wield their advantages.

Allen was the only anti-ageing advocate I spoke to who entertained any ethical discomfort. The biggest thing that concerns me is despots, dictators, he said. They die over time. With this, they might be able to live.

Even if we believe the claims these proponents of eternal youth make that the planet can cope, that societies will be no more unequal one problem remains: death. Its proximity directly affects our appetite for risk, making clinical trials into new vaccines possible, and encouraging billionaires to go into space. In a future where death occurs only as a result of rare disease, suicide or tragic accident, will we become paralysed by the fear of it?

For the first time, Halioua didnt have an answer. I dont know, she replied, after a long pause. I would argue that this is already a huge latent paralysis in the average human. Maybe it will get better. I dont see a world where we start becoming extra- terrified of car accidents, but maybe we will. Her face brightened: she had an idea. Maybe Tesla needs to get all their self-driving cars on the market and market it this way Number One Cause of Death Eliminated By Tesla! There it was again: the answer to a problem created by technology is more technology. The future looked bright once more and endless.

Jenny Kleeman is the author of Sex Robots and Vegan Meat: Adventures at the Frontier of Birth, Food, Sex and Death (Picador)

This article appears in the 13 Oct 2021 issue of the New Statesman, Perfect Storm

Read the original here:
Who wants to live forever? Big Tech and the quest for eternal youth - New Statesman

Cancer is a condition where some of the bodys cells grow and divide in a way that can be difficult to manage.

Typically, the growth and division of cells is tightly managed and there are many genes that regulate these processes.

When certain genetic changes occur within cells, the way that they grow and divide can become atypical and develop into cancer. There are several factors involved in genetic changes that may lead to developing cancer.

While environmental and lifestyle factors can lead to some of these changes, an individuals genetics also play an important role. Its possible to inherit some gene changes that increase your risk of developing certain types of cancer.

Genetic testing is available to help detect some of the genetic changes that can increase the risk of developing cancer. Keep reading to learn more about this testing, its potential benefits, and whos a good candidate.

Genetic testing is a tool that can be used to learn about inherited cancer risks. Some examples of cancers where specific genes appear to play a role in cancer risk include:

Other cancers where specific genes appear to play a role in cancer risk include some cancers of your:

Genetic testing looks for variations in genes that are associated with an increased risk of cancer. The National Cancer Institute estimates that inherited gene variants contribute to 5 to 10 percent of all cancers.

There are many options for genetic testing. For example, your healthcare professional may recommend a test to look for variants in a single gene. There are also panel tests that can detect variants in several genes.

There are several components that are associated with genetic testing for cancer. Lets explore each of them below:

A healthcare professional, such as a doctor or genetic counselor, will look at both your personal and family medical history to determine if youre a good candidate for genetic testing.

A genetic counselor will work to give you additional information that can help you decide if you want to get tested. This can include information on:

Genetic counselors are also important after testing. They can help you interpret your results and discuss what to do moving forward.

If you decide to get tested, youll be asked to sign an informed consent document. This document confirms that youve been told about things like:

The testing procedure typically involves collecting a blood sample from a vein in your arm. However, it may also be a sample of:

The sample is then analyzed by a lab that specializes in genetic testing. Its possible that it can take several weeks for results to be ready.

When results are available, theyre typically sent to your genetic counselor, who will then contact you to discuss them and develop a plan for next steps.

The different results that you can receive are:

Genetic testing for cancer can have several potential benefits. These can include:

A healthcare professional may recommend genetic testing for cancer when:

Now lets look at some examples of situations where you may consider genetic testing for cancer.

Someone with a strong family history of developing certain types of cancer may choose to get tested to find out their risk level. This is typically the case if:

For example, someone with both a mother and sister that have been diagnosed with breast cancer may choose to be tested for variations in the BRCA1 and BRCA2 genes.

If the test has a positive result, this person can then begin to take preventative steps. These can include things like:

A person thats already been diagnosed with cancer may wish to see if an inheritable factor is present. This is particularly true if they have a family history of certain types of cancer or if they received their diagnosis younger than 50 years old.

Knowing that a relative has a specific genetic variation that increases cancer risk can be beneficial for family members as well. It may prompt them to get genetic testing themselves.

Genetic testing isnt perfect. If you do receive a positive test result for a specific gene variant, it doesnt mean that youll develop cancer. It just means that your risk of developing cancer is increased.

Additionally, remember that all cancers are different. Because of this, different types of variations are associated with different levels of risk. Your genetic counselor will discuss this with you when you get your results.

According to Breastcancer.org, the cost of genetic testing for cancer can vary greatly and can be between $300 and $5,000. How much genetic testing costs can depend on the type of test as well as how complex it is.

What exactly is covered will depend on your specific health insurance plan. Many plans will offer some coverage if genetic testing is considered medically necessary.

If youre considering genetic testing for cancer, contact your insurance provider before getting tested. They can help inform you about what is and isnt covered.

Recently, home-based genetic testing has increased in popularity. These tests typically involve using a swab to collect a sample from your mouth. You then mail this sample back and get your results by:

You may be curious if home-based genetic tests are good for determining your cancer risk.

Overall, its best to talk with a healthcare professional if youre interested in genetic testing to assess your cancer risk. Some reasons for this include:

Genetic testing can help determine if you have certain genetic variations that place you at an increased risk of developing cancer. Its often done when you have a family or personal history of certain types of cancer.

There are many benefits to genetic testing. For example, a negative test result may offer some peace of mind. Or, a positive result could help you start taking steps that can prevent cancer from occurring.

Genetic testing does have limitations. A positive test result doesnt mean with certainty that youll develop cancer, Meanwhile, a negative test result doesnt mean that youll never develop cancer over the course of your lifetime.

A healthcare professional or genetic counselor will work with you to help you decide if genetic testing is right for you. If you do decide to get tested, they can also walk you through what the results mean as well as discuss next steps.

Read the original here:
Genetic Testing for Cancer: Benefits, Risks, Cost, and More - Healthline

Important

There are many things to think about when deciding whether genetic testing is right for you. Although these tests can provide important information about health risks, they can also be upsetting or raise questions about what the results mean. Genetic tests also have certain limitations that are important to understand. Your personal and family medical history, as well as your goals for testing, should all factor into your decisions about whether and how to test.

A genetic counselor, a healthcare professional with special training in genetic conditions, will be able to answer your questions and help you make an informed choice. We recommend that you speak with a genetic counselor before testing, and also after testing to help you understand your results and what actions you should take. This is especially important for health conditions that are preventable or treatable.

Talk to your healthcare provider or click here to search for a genetic counselor near you (this link takes you to a page managed by the National Society of Genetic Counselors: http://www.aboutgeneticcounselors.com/).

Read more:
Information about Genetic Health Risk reports - 23andMe

Most rare retinal diseases including retinitis pigmentosa, Stargardt disease, Usher syndrome and choroideremia are inherited and usually caused by one or more defects (mutations) in a single gene.

Genetic testing is available to attempt to identify the defective gene causing the IRD in an individual or family.

There are potential benefits to knowing the underlying genetic cause of a persons IRD. It may help confirm or refine a diagnosis. Knowing the mutated gene can help a person understand how the disease may affect their vision during their lifetime. It can also guide the testing of family members to identify those at risk of inheriting the condition. Knowing the genetic defect may help people qualify for clinical trials and inform them about which future therapies may be of benefit.

At the same time, the information revealed from a genetic test may not be immediately helpful to an individual or family. In some cases, the knowledge might create anxiety for some family members.

It is very important to remember, however, that a genetic test may not reveal the defective gene, which can be frustrating for a patient and their family.

The decision to undergo genetic testing should not be made lightly. Anyone interested in a genetic test is strongly advised to talk to a genetic counselor or retinal physician who is knowledgeable about the genetic testing process and the potential impacts of the results, before they decide to undertake the test.

The Foundations booklet Genetic Testing For Retinal Degenerative Diseases: Information and Resources for Affected Individuals, Families and Health Care Providers offers additional information on the genetic testing process. While the booklet is not a substitute for a genetic counselor, it can help you better understand and prepare for the process. The last section of the booklet lists additional resources, which may also be helpful.

You can download the booklet by clicking on the hyperlink below or call 800-683-5555 and ask for a copy to be mailed to you.

Here is the original post:
Why Genetic Testing is Important - Foundation Fighting Blindness

If a person develops pancreatic cancer, it may have genetic mutations that affect how it responds to treatment. Genetic testing can provide valuable information to help doctors and individuals make treatment decisions.

Healthcare providers use genetic testing to learn more about the DNA in a persons cells. Specific genetic mutations affect how cancer grows, including pancreatic cancer.

People who dont have cancer may still consider genetic testing, depending on their family history. If someone inherits specific genetic mutations, it raises their risk of developing pancreatic cancer.

Take a moment to learn how doctors may use genetic testing to check for these genetic mutations.

Healthcare providers and genetic counselors use two main types of genetic testing to manage pancreatic cancer: germline testing and somatic testing.

Germline testing, or predictive genetic testing, can identify whether a person has inherited genetic mutations linked to pancreatic cancer. These include certain mutations on the following genes:

Many of these genetic mutations also raise the risk of other types of cancer, such as breast, ovarian, prostate, and colorectal cancer.

A healthcare provider or genetic counselor may recommend germline testing to someone who receives a pancreatic cancer diagnosis. This testing will identify whether the cancer has a genetic link, which may affect the treatment options.

A healthcare provider or genetic counselor may also recommend germline testing to someone who has a strong family history of certain types of cancer or a blood relative who tested positive for certain genetic mutations. If the blood relative has genetic traits linked to pancreatic cancer, those traits may run in the family.

When someone tests positive for genetic mutations linked to pancreatic cancer, their healthcare provider or genetic counselor may encourage their family members to get tested. Doctors call this cascade testing.

If someone receives a diagnosis of pancreatic cancer, their healthcare provider may order somatic, or tumor, testing on a sample of the tumor.

This will identify whether the cancer has mutations in specific genes that affect how it behaves and responds to treatment.

The results of somatic testing help the healthcare provider determine the most suitable and effective treatments. Certain targeted therapies are more effective in treating tumors with specific genetic mutations.

The results of a germline or somatic test may influence a persons treatment plan for pancreatic cancer. That is because certain genetic mutations affect how pancreatic cancer responds to specific treatments.

For instance, research suggests that platinum-based chemotherapy might best suit people with pancreatic cancer who test positive for germline or somatic mutations in DNA repair genes. The BRCA1, BRCA2, and PALB2 genes are three examples of DNA repair genes.

According to a review in Cancer Management and Research, PARP inhibitors provide another promising treatment for pancreatic cancer in people with germline mutations in the BRCA1 or BRCA2 gene.

Scientists continue to study how people with somatic or germline mutations in these genes or other DNA repair genes respond to this treatment.

A persons genetic test results can also help their doctor predict how pancreatic cancer will respond to other medications, such as larotrectinib (Vitrakvi), entrectinib (Rozlytrek), and pembrolizumab (Keytruda).

To conduct genetic testing, a healthcare provider collects a sample of blood or tissue from a persons body. The type of sample depends on which kind of testing they order.

Before someone undergoes germline testing, their healthcare provider or genetic counselor will ask them about their personal and family medical history. This helps them determine whether germline testing is appropriate for them.

To conduct germline testing, a healthcare professional uses a needle and syringe to draw a sample of the persons blood. They send this sample to a laboratory for genetic sequencing.

To conduct somatic testing, a healthcare professional collects a sample of pancreatic cancer from a persons body. They may use endoscopic surgery to collect this sample.

To perform endoscopic surgery, the healthcare professional makes a small incision in the persons abdomen. Then they insert an endoscope, which is a flexible tube, through the incision and use that tube to remove a sample of the tumor.

They then send the sample to a laboratory for genetic testing.

A person can talk to their healthcare provider or genetic counselor to find out about the cost of genetic counseling services and genetic tests.

If someone has health insurance and meets certain criteria, their insurance plan may cover some or all of the costs of germline testing, somatic testing, or genetic counseling.

They may contact their insurance provider to learn if their plan provides coverage, and how much they can expect to pay in co-payment, co-insurance, or deductible charges.

Under federal law in the United States, health insurance providers cannot use genetic tests to decide which people they cover or how much they charge for health insurance.

Federal law does not prevent life insurance, disability insurance, or long-term care insurance providers from using genetic test results to guide their coverage decisions. As a result, some people prefer to pay for genetic counseling and testing out of pocket to keep the results private.

Sometimes the results of genetic tests are inconclusive. In other words, the test may not provide enough information to know if a person has specific genetic mutations or not.

False-negative results are rare, but they do occur. This means that although the test shows a negative result, genetic mutations are present.

To help a person understand the results of their genetic test, their healthcare provider may refer them to a genetic counselor.

A genetic counselor can help the person understand what positive, negative, or inconclusive test results mean for them and their family.

A person should talk to their healthcare provider or a genetic counselor to determine whether they should get genetic testing for pancreatic cancer or other types of cancer.

Their healthcare provider or genetic counselor may recommend germline testing if the person:

Their healthcare provider or genetic counselor might recommend somatic testing if they received a diagnosis of pancreatic cancer.

If someone has a family history of pancreatic cancer or certain other types of cancer, their healthcare provider or genetic counselor may recommend germline testing.

If a person receives a diagnosis of pancreatic cancer, their treatment team may recommend germline testing, somatic testing, or both.

These types of genetic testing can identify the presence of specific genetic mutations that may affect how cancer develops.

Anyone concerned about their cancer risk should talk to their healthcare provider about whether genetic testing is appropriate for them.

Continue reading here:
Genetic testing for pancreatic cancer: What to know - Medical News Today

DNA matching techniques to identify someone's father

DNA paternity testing is the use of DNA profiles to determine whether an individual is the biological parent of another individual. Paternity testing can be especially important when the rights and duties of the father are in issue and a child's paternity is in doubt. Tests can also determine the likelihood of someone being a biological grandparent. Though genetic testing is the most reliable standard, older methods also exist, including ABO blood group typing, analysis of various other proteins and enzymes, or using human leukocyte antigen antigens. The current techniques for paternity testing are using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Paternity testing can now also be performed while the woman is still pregnant from a blood draw.[1][2]

DNA testing is currently the most advanced and accurate technology to determine parentage. In a DNA paternity test, the result (called the 'probability of parentage)[3][failed verification] is 0% when the alleged parent is not biologically related to the child, and the probability of parentage is typically 99.99% when the alleged parent is biologically related to the child. However, while almost all individuals have a single and distinct set of genes, rare individuals, known as "chimeras", have at least two different sets of genes, which can result in a false negative result if their reproductive tissue has a different genetic make-up from the tissue sampled for the test.[4]

The DNA test is performed by collecting buccal (cheek) cells found on the inside of a person's cheek using a buccal or cheek swab. These swabs have wooden or plastic stick handles with a cotton on synthetic tip. The collector rubs the inside of a person's cheek to collect as many buccal cells as possible, which are then sent to a laboratory for testing. Samples from the alleged father or mother and the child would be needed.

It is possible to determine who the biological father of the fetus is while the woman is still pregnant through procedures called chorionic villus sampling or amniocentesis. Chorionic villus sampling retrieves placental tissue in either a transcervical or transabdominal manner. Amniocentesis retrieves amniotic fluid by inserting a needle through the pregnant mother's abdominal wall. These procedures are highly accurate because they are taking a sample directly from the fetus; however, there is a small risk for the woman to miscarry and lose the pregnancy as a result. Both CVS and Amnio require the pregnant woman to visit a genetic specialist known as a maternal fetal medicine specialist who will perform the procedure.

Advances in genetic testing have led to the ability to identify the biological father while the woman is still pregnant. There is a small amount of fetal DNA (cffDNA) present in the mother's blood during pregnancy. This allows for accurate fetal DNA paternity testing during pregnancy from a blood draw with no risk of miscarriage. Studies have shown that cffDNA can first be observed as early as 7 weeks gestation, and the amount of cffDNA increases as the pregnancy progresses.[5][6]

The DNA of an individual is the same in every somatic (nonreproductive) cell. Sexual reproduction brings the DNA of both parents together to create a unique combination of genetic material in a new cell, so the genetic material of an individual is derived from the genetic material of each parent in equal amounts; this genetic material is known as the nuclear genome of the individual, because it is found in the nucleus.

Comparing the DNA sequence of one person to that of another can prove if one of them was derived from the other, but DNA paternity tests are not currently 100% accurate. Specific sequences are examined to see if they were copied verbatim from one individual's genome; if so, then the genetic material of one individual could have been derived from that of the other (i.e. one is the parent of the other). Besides nuclear DNA, mitochondria also have their own genetic material called mitochondrial DNA. Mitochondrial DNA comes only from the mother, without any shuffling.

Proving a relationship based on comparison of the mitochondrial genome is much easier than that based on the nuclear genome. However, testing the mitochondrial genome can prove only if two individuals are related by common descent through maternal lines only from a common ancestor and is, thus, of limited value (i.e., it could not be used to test for paternity).

In testing the paternity of a male child, comparison of the Y chromosome can be used, since it is passed directly from father to son.

In the US, the AABB has regulations for DNA paternity and family relationship testing, but AABB accreditation is not required. DNA test results are legally admissible if the collection and the processing follows a chain of custody. Similarly in Canada, the SCC has regulations on DNA paternity and relationship testing, but this accreditation, while recommended, is not required.

The Paternity Testing Commission of the International Society for Forensic Genetics has taken up the task of establishing the biostatistical recommendations in accordance with the ISO/IEC 17025 standards.[7] Bio-statistical evaluations of paternity should be based on a likelihood ratio principle - yielding the Paternity Index, PI. The recommendations provide guidance on concepts of genetic hypotheses and calculation concerns needed to produce valid PIs, as well as on specific issues related to population genetics.

The first form of any kind of parental testing was blood typing, or matching blood types between the child and alleged parent, which became available in the 1920s, after scientists recognized that blood types, which had been discovered in the early 1900s, were genetically inherited. Under this form of testing, the blood types of the child and parents are compared, and it can be determined whether there is any possibility of a parental link. For example, two O blood type parents can produce a child only with an O blood type, and two parents with a B blood type can produce a child with either a B or an O blood type. This often led to inconclusive results, as 30% of the entire population can be excluded from being the possible parent under this form of testing.[8] In the 1930s, serological testing, which tests certain proteins in the blood, became available, with a 40% exclusion rate.[9]

In the 1960s, highly accurate genetic paternity testing became a possibility when HLA typing was developed, which compares the genetic fingerprints on white blood cells between the child and alleged parent.[10] HLA tests could be done with 80% accuracy but could not distinguish between close relatives.[11] Genetic parental testing technology advanced further with the isolation of the first restriction enzyme in 1970. Highly accurate DNA parental testing became available in the 1980s with the development of RFLP. In the 1990s, PCR became the standard method for DNA parental testing: a simpler, faster, and more accurate method of testing than RFLP, it has an exclusion rate of 99.99% or higher.[11]

The DNA parentage test that follows strict chain of custody can generate legally admissible results that are used for child support, inheritance, social welfare benefits, immigration, or adoption purposes. To satisfy the chain-of-custody legal requirements, all tested parties have to be properly identified and their specimens collected by a third-party professional who is not related to any of the tested parties and has no interest in the outcome of the test.

The quantum of evidence needed is clear and convincing evidence: that is, more evidence than an ordinary case in civil litigation, but less than beyond a reasonable doubt required to convict a defendant in a criminal case.

In recent years, immigration authorities in various countries, such as the United States, United Kingdom, Canada, Australia, France, and others, may accept DNA parentage test results from immigration petitioners and beneficiaries in a family-based immigration case when primary documents that prove biological relationship are missing or inadequate.

In the U.S., immigration applicants bear the responsibility of arranging and paying for DNA testing. The U.S. immigration authorities require that the DNA test, if pursued, be performed by one of the laboratories accredited by the AABB (formerly American Association of Blood Banks). Similarly, in Canada, the laboratory needs to be accredited by the Standards Council of Canada.

Although paternity tests are more common than maternity tests, there may be circumstances in which the biological mother of the child is unclear: examples include cases of an adopted child attempting to reunify with his or her biological mother, potential hospital mix-ups, and in vitro fertilization where the laboratory may have implanted an unrelated embryo inside the mother.

Other factors, such as new laws regarding reproductive technologies using donated eggs and sperm and surrogate mothers, can also mean that the female giving birth is not necessarily the legal mother of the child. For example, in Canada, the federal Human Assisted Reproduction Act provides for the use of hired surrogate mothers. The legal mother of the child may be the egg donor. Similar laws are in place in the United Kingdom and Australia.

In Brazil in 2019, two male identical twins were ordered to both pay maintenance for a child fathered by one of them, because the father could not be identified with DNA.[12]

Peace-of-mind parentage tests are widely available on the internet. For a parentage test (paternity or maternity) to be admissible for legal purposes, such as for changing a birth certificate, Family Law Court proceedings, visa/citizenship applications or child support claims, the process must comply with the Family Law Regulations 1984 (Cth).[13] Further, the laboratory processing the samples must be accredited by the National Association of Testing Authorities (NATA).[14]

Personal paternity-testing kits are available. The Standards Council of Canada regulates paternity testing in Canada whereby laboratories are ISO 17025-approved. In Canada, only a handful of labs have this approval, and it is recommended that testing is performed in these labs. Courts also have the power to order paternity tests during divorce cases.[15]

In China, paternity testing is legally available to fathers who suspect their child is not theirs. Chinese law also requires a paternity test for any child born outside the one-child policy for the child to be eligible for a hukou, or family registration record. Family tie formed by adoption can also only be confirmed by a paternity test. A large number of Chinese citizens seek paternity testing each year, and this has given rise to many unlicensed illegal testing centers being set up.[16]

DNA paternity testing is solely performed on decision of a judge in case of a judiciary procedure in order either to establish or contest paternity or to obtain or deny child support.[17] Private DNA paternity testing is illegal, including through laboratories in other countries, and is punishable by up to a year in prison and a 15,000 fine.[18] The French Council of State has described the law's purpose as upholding the "French regime of filiation" and preserving "the peace of families."[19]

Under the Gene Diagnostics Act of 2009, secret paternity testing is illegal. Any paternity testing must be conducted by a licensed physician or by an expert with a university degree in science and special education in parentage testing, and the laboratory carrying out genetic testing must be accredited according to ISO/IEC 17025. Full informed consent of both parents is required, and prenatal paternity testing is prohibited, with the exception of sexual abuse and rape cases. Any genetic testing done without the other parent's consent is punishable with a 5,000 fine.[20] Due to an amendment of the civil law section 1598a in 2005, any man who contests paternity no longer automatically severs legal rights and obligations to the child.[21][22]

A paternity test with any legal standing must be ordered by a family court. Though parents have access to "peace of mind" parental tests through overseas laboratories, family courts are under no obligation to accept them as evidence. It is also illegal to take genetic material for a parental test from a minor over 16 years of age without the minor's consent. Family courts have the power to order paternity tests against the will of the father in divorce and child support cases, as well as in other cases such as determining heirs and settling the question involving the population registry. A man seeking to prove that he is not the father of the child registered as his is entitled to a paternity test, even if the mother and natural guardian object. Paternity tests are not ordered when it is believed it could lead to the murder of the mother, and until 2007, were not ordered when there was a chance that the child could have been conceived outside of marriage, making them a mamzer under Jewish law.[23][24][25]

DNA paternity testing for personal knowledge is legal, and home test kits are available by mail from representatives of AABB- and ISO 17025-certified laboratories.[26] DNA Paternity Testing for official purposes, such as sustento (child support) and inheritance disputes, must follow the Rule on DNA Evidence A.M. No. 06-11-5-SC, which was promulgated by the Philippine Supreme Court on October 15, 2007.[27] Tests are sometimes ordered by courts when proof of paternity is required.

In Spain, peace-of-mind paternity tests are a "big business," partly due to the French ban on paternity testing, with many genetic testing companies being based in Spain.[28][29]

In the United Kingdom, there were no restrictions on paternity tests until the Human Tissue Act 2004 came into force in September 2006. Section 45 states that it is an offence to possess without appropriate consent any human bodily material with the intent of analysing its DNA. Legally declared fathers have access to paternity-testing services under the new regulations, provided the putative parental DNA being tested is their own. Tests are sometimes ordered by courts when proof of paternity is required. In the UK, the Ministry of Justice accredits bodies that can conduct this testing. The Department of Health produced a voluntary code of practice on genetic paternity testing in 2001. This document is currently under review, and responsibility for it has been transferred to the Human Tissue Authority.In the 2018 case of Anderson V Spencer the Court of Appeal permitted for the very first time DNA samples taken from a Deceased person to be used for paternity testing.

In the United States, paternity testing is fully legal, and fathers may test their children without the consent or knowledge of the mother. Paternity testing take-home kits are readily available for purchase, though their results are not admissible in court and are for personal knowledge only.

Only a court-ordered paternity test may be used as evidence in court proceedings. If parental testing is being submitted for legal purposes, including immigration, testing must be ordered through a lab that has AABB accreditation for relationship DNA testing.[30]

The legal implications of a parentage result test vary by state and according to whether the putative parents are unmarried or married. If a parentage test does not meet forensic standards for the state in question, a court-ordered test may be required for the results of the test to be admissible for legal purposes. For unmarried parents, if a parent is currently receiving child support or custody, but DNA testing later proves that the man is not the father, support automatically stops. However, in many states, this testing must be performed during a narrow window of time, if a voluntary acknowledgement of parentage form has already been signed by the putative father; otherwise, the results of the test may be disregarded by law, and in many cases, a man may be required to pay child support, though the child is biologically unrelated. In a few states, if the mother is receiving the support, then that alleged father has the right to file a lawsuit to get back any money that he lost from paying support. As of 2011, in most states, unwed parents confronted with a voluntary acknowledgement of parentage form are informed of the possibility and right to request a DNA paternity test. If testing is refused by the mother, the father may not be required to sign the birth certificate or the voluntary acknowledgement of parentage form for the child. For wedded putative parents, the husband of the mother is presumed to be the father of the child. But, in most states, this presumption can be overturned by the application of a forensic paternity test; in many states, the time for overturning this presumption may be limited to the first few years of the child's life.

Reverse paternity determination is the ability to establish the biological father when the father of that person is not available. The test uses the STR alleles in the mother and her child, other children and brothers of the alleged father, and deduction of genetic constitution of the father by the basis of genetic laws, all to create a rough amalgamation. This can compare the father's DNA when a direct sample of the father's DNA is unavailable. An episode of Solved shows this test being used to know if a blood sample matches with the victim of a kidnapping.

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DNA paternity testing - Wikipedia

BOSTON--(BUSINESS WIRE)--Outcomes4Me Inc., developer of a leading free mobile app and platform to navigate cancer treatment and care, today announced that it has partnered with Invitae Corporation (NYSE: NVTA), a leading medical genetics company, to expand education and access to genetic testing to breast cancer patients and survivors. The collaboration leverages the strengths of Invitae, which supplies clinical grade genetic testing, and Outcomes4Mes 360-degree, validated and evidence-based cancer support and treatment options via its free and easy-to-use app. Initially and currently available in the United States, patients can now receive genetic counseling through Invitaes partnership with Genome Medical, get testing, and upload their results within the Outcomes4Me app.

There is a misconception that genetic testing is only useful as a preventative tool prior to a cancer diagnosis. According to Outcomes4Me patient data, almost half of users (46 percent) who qualified for testing (based on NCCN Guidelines) did not receive testing or did not know if they had received testing. However, genetic testing can provide insights that can help inform and refine precision therapy use and clinical treatment trial enrollment. In addition, genetic testing results can be used to help prevent recurrence and reduce incidence of other inherited cancers.

A cancer diagnosis is often overwhelming for patients and their families. Outcomes4Me demystifies cancer by providing the most up-to-date and validated research, support, and treatment options, all grounded in science and data and curated according to the patients specific diagnosis. Outcomes4Me partners with the researchers, doctors, and academics that set the rigorous standards of cancer care for all treatment providers, including the National Comprehensive Care Network (NCCN), Vanderbilt-Ingram Cancer Center (VICC) and Massachusetts General Hospital (MGH). The collaboration with Invitae expands access to genetic testing, a vitally important tool in the patients cancer care arsenal.

Outcomes4Me is an indispensable platform for patients with breast cancer, giving them the personalized knowledge and access to timely new trials and targeted therapies that could lead to better health outcomes, said Ed Esplin, M.D., Ph.D., FACMG, FACP, Clinical Geneticist at Invitae. By providing access to our comprehensive genetic testing and counseling services, Outcomes4Me is adding a valuable resource that will empower patients to advance their knowledge, understanding, and therefore, self-advocacy during treatment and survivorship.

Unlike popular direct-to-consumer genetic testing services, which test for a few specific genetic variants for certain genes, Invitae provides state-of-the-art clinical grade next-generation sequencing-based (NGS) genetic testing that comprehensively analyses more than 80 genes, including all known mutations of the important BRCA1/BRCA2 genes. This comprehensive approach, combined with associated genetic counseling, not only provides insights for cancer patients, but also for family members who may be at risk.

Our collaboration with Invitae reinforces Outcomes4Mes mission to give patients back control, said Maya R. Said, Sc. D., Founder and CEO of Outcomes4Me. Because of this work with Invitae, our valued community now has rare direct access to a much-needed testing service. Outcomes4Me will proudly continue to democratize the best in cancer treatment, research, and support by removing barriers and bias in information flow.

The Outcomes4Me app is available free to users on both the App Store and Google Play.

About Invitae

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

About Outcomes4Me

Outcomes4Me is on a mission to improve health outcomes by empowering patients with understandable, relevant and evidence-based information. Outcomes4Me has developed a platform for shared decision-making between patients and providers. The platform harnesses regulatory-grade, real-world data and patient experiences generating deeper insights and better outcomes to improve care and accelerate research. The Outcomes4Me mobile app enables cancer patients to make decisions and take control of their care based on information that is personalized to their specific condition, including finding treatment options, matching to clinical trials, and tracking and managing symptoms. Based in Boston, Massachusetts, Outcomes4Me, a woman-led company, comprises seasoned healthcare, oncology, pharmaceutical, consumer and technology veterans. For more information, visit http://www.outcomes4me.com.

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Outcomes4Me Partners with Invitae to Offer Genetic Testing to Breast Cancer Patients - Business Wire

NEW YORK The Centers for Disease Control and Prevention said on Monday that its Genetic Testing Reference Materials Program (GeT-RM) has partnered with the Clinical Genome Resource (ClinGen) to develop a publicly available list of 546 curated clinically important variants in 84 genes for use in next-generation sequencing genetic testing.

By defining variants that are either major contributors to disease or difficult to detect, the list will serve as a resource for the design of comprehensive analytical validation studies, as well as the creation of computer-modulated or simulated reference materials for clinical genomic test development, the partners said.

Genetic testing has grown from the analysis of small sets of known pathogenetic variants in one or a few genes to the analysis of hundreds or thousands of genes simultaneously using NGS, they added. But it's difficult, or even impossible, to obtain DNA reference materials containing the full scope of variants and variant types needed to perform a comprehensive validation study. It can also be challenging for laboratories to maintain the expert knowledge to identify variants that are appropriately representative of the spectrum of disease for inclusion in validation studies.

The new variant list, they said, will help address these complexities.

The CDC and ClinGen first proposed the curated list in a paper published in August in the Journal of Molecular Diagnostics. The variant types include 346 SNVs, 104 deletions, 37 copy number variants, 25 duplications, 18 deletion-insertions, five inversions, four insertions, two complex rearrangements, three difficult-to-sequence regions, and two fusions. They were nominated for a variety of reasons, including being major contributors to disease, analytically difficult to detect, or inadvertently filtered out due to high allele frequency.

The authors also noted that the list of 84 genes include 29 of the 73 genes recommended by the American College of Medical Genetics and Genomics for reporting of incidental or secondary findings.

The ClinGen Allele Registry was used to standardize nomenclature for all nominated variants, and ClinVar Variation IDs and associated disorders were added where available. The Food and Drug Administration has also recognized ClinGen's curation process and its resulting classifications as a regulatory-grade variant database, and the curated variants are available via the National Center for Biotechnology Information's ClinVar database and ClinGen's Evidence Repository.

"This important novel approach will remove a critical bottleneck for test developers and may help harmonize test development and validation across laboratories," co-lead investigator Birgit Funke, VP of genomic health at Sema4, said in a statement.

Co-lead investigator and GeT-RM Director Lisa Kalman also noted that the partners have started a pilot project to demonstrate how the curated variants "could be used to create reference materials by in silico mutagenesis of NGS sequencing files. The pilot will examine whether the added variants can be detected by the clinical laboratories that generated the NGS files and demonstrate a general process that labs can use to develop electronic reference materials to fit their own needs."

GeT-RM and ClinGen will continue to add to the current variant list as needed, and are inviting input from the genetics community about the list and the processes used to generate it.

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CDC, ClinGen Partner to Develop Curated List of Important Variants for Use in NGS Genetic Testing - GenomeWeb

DALLAS--(BUSINESS WIRE)--Taysha Gene Therapies, Inc. (Nasdaq: TSHA), a patient-centric, pivotal-stage gene therapy company focused on developing and commercializing AAV-based gene therapies for the treatment of monogenic diseases of the central nervous system (CNS) in both rare and large patient populations, today announced sponsored genetic testing for giant axonal neuropathy (GAN) in partnership with GeneDx, Inc., a leader in genomic analysis and a wholly owned subsidiary of BioReference Laboratories, Inc., an OPKO Health company (NASDAQ:OPK). Under the partnership, Taysha will sponsor the inclusion of a genetic marker to test for GAN in the GeneDx hereditary neuropathy panel free of charge to individuals at risk for or suspected of having GAN.

GAN is a progressive neurodegenerative disease that affects both the central and peripheral nervous systems leading to motor weakness, sensory impairment, and cognitive dysfunction. Currently, there are no approved treatments for GAN, which results in death for patients often in their late teens or early twenties. Although no symptoms are present in the first few months of life, many children with early onset GAN develop symptoms and features before the age of three. A more recently identified later onset phenotype of GAN is often mischaracterized as Charcot-Marie-Tooth. The estimated prevalence for GAN is 2,400 patients, but the GAN population is anticipated to be larger than previously appreciated.

In the natural history study, Motor Function Measure 32 (MFM32), a validated and well-known scale to measure strength and motor function, is the primary endpoint. A four-point change on the MFM32 score is considered clinically meaningful, which has been validated across numerous similar neuropathies. Natural history decline in patients with GAN is eight points per year. Treatment with TSHA-120, Tayshas intrathecally dosed AAV9 gene therapy currently being evaluated in a Phase 1/2 clinical trial led by Carsten Bnnemann, M.D., Chief of the Neuromuscular and Neurogenetic Disorders of Childhood Section and Senior Investigator, Neurogenetics Branch of the National Institute of Neurological Disorders and Stroke (NINDS), U.S. National Institutes of Health (NIH). Data demonstrate a statistically significant halt in decline as measured by the MFM32 at therapeutic doses. All GAN natural history data was generated and supported by the NINDS, NIH under umbrella protocol NCT01568658.

Rare diseases like GAN are often mischaracterized, particularly when there are overlapping symptoms with other diseases with higher awareness, said Suyash Prasad, MBBS, M.Sc., MRCP, MRCPCH, FFPM, Chief Medical Officer and Head of Research and Development of Taysha. Early diagnosis can dramatically improve the lives of patients and we are very excited to work with GeneDx, a global leader in genetic testing, to have GAN included in its routine hereditary neuropathy screening panel. Ultimately, this can help address current treatment barriers by raising disease awareness, making diagnostic tools more accessible and facilitating earlier intervention for patients suffering from GAN. We are also excited to collaborate with the Hereditary Neuropathy Foundation and the Charcot-Marie-Tooth Association Centers of Excellence, healthcare professionals, and patient advocacy groups to increase access to genetic testing. In the meantime, we look forward to reporting Phase 1/2 clinical data for TSHA-120 from the high dose cohort in the second half of this year. We have submitted a request for scientific advice from a regulatory agency and look forward to next steps.

Paul Kruszka, M.D., F.A.C.M.G., chief medical officer of GeneDx added, Earlier access to genetic testing can take years off the diagnostic journey for patients facing rare diseases like GAN. By ensuring patients and clinicians no longer have to rely on solely clinical criteria and symptom presentation to get to an accurate diagnosis, we can help clinicians turn their attention to effective treatment plans earlier in the course of the disease. We look forward to partnering with Taysha on this important effort to improve diagnosis of neurodegenerative diseases like GAN.

Taysha will sponsor the new initiative which will make genetic testing available free of charge to individuals at risk for or suspected of having GAN. The initiative is designed to increase access to genetic testing for patients. GeneDx will provide analysis of genes on the Hereditary Neuropathy Panel by next-generation sequencing with deletion/duplication detection.

As the later onset phenotype of GAN is sometimes miscategorized as Charcot-Marie-Tooth or Charcot-Marie-Tooth Type 2, Taysha plans to collaborate with the Hereditary Neuropathy Foundation (HNF) and the Charcot-Marie Tooth Association (CMTA) by engaging their Centers of Excellence to administer genetic tests to appropriate patients and by creating awareness among patients and families about this new initiative.

Allison Moore, Founder and Chief Executive Officer (CEO) of the HNF said, We believe all patients at risk for or suspected to have GAN should have access to receive genetic testing in order to confirm a potential GAN diagnosis and to be made aware of opportunities to participate in clinical trials for investigational treatments. This initiative aligns with HNFs mission to accelerate and help facilitate an accurate diagnosis for patients and families worldwide.

Through this initiative, patients will have access to no-charge genetic testing, eliminating one of the biggest barriers, said Amy Gray, CEO of the CMTA. The CMTAs support of this initiative is part of our broader commitment to accelerate research and empower patients and families living with GAN and other forms of CMT, including the most vulnerable, by giving them access to resources that may help improve outcomes and quality of life.

All testing will be ordered through a clinician. Sponsored testing programs have previously been shown to increase access to genetic testing, confirm diagnosis and enable participation in clinical trials for patients.

About Taysha Gene Therapies

Taysha Gene Therapies (Nasdaq: TSHA) is on a mission to eradicate monogenic CNS disease. With a singular focus on developing curative medicines, we aim to rapidly translate our treatments from bench to bedside. We have combined our teams proven experience in gene therapy drug development and commercialization with the world-class UT Southwestern Gene Therapy Program to build an extensive, AAV gene therapy pipeline focused on both rare and large-market indications. Together, we leverage our fully integrated platforman engine for potential new cureswith a goal of dramatically improving patients lives. More information is available at http://www.tayshagtx.com.

About GeneDx, Inc.

GeneDx, Inc. is a global leader in genomics, providing testing to patients and their families worldwide. Originally founded by scientists from the National Institutes of Health, GeneDx offers a world-renowned clinical genomics program with particular expertise in rare and ultra-rare genetic disorders. In addition to its market-leading exome sequencing service, GeneDx offers a suite of additional genetic testing services, including diagnostic testing for hereditary cancers, cardiac, mitochondrial, neurological disorders, prenatal diagnostics, and targeted variant testing. GeneDx is a subsidiary of BioReference Laboratories, Inc., a wholly owned subsidiary of OPKO Health, Inc. To learn more, please visit http://www.genedx.com.

About OPKO Health

OPKO Health, Inc. (NASDAQ:OPK) is a multinational biopharmaceutical and diagnostics company that seeks to establish industry-leading positions in large, rapidly growing markets by leveraging its discovery, development, and commercialization expertise and novel and proprietary technologies. For more information, visit http://www.opko.com.

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as anticipates, believes, expects, intends, projects, and future or similar expressions are intended to identify forward-looking statements. Forward-looking statements include statements concerning the potential of our product candidates, including TSHA-120, to positively impact quality of life and alter the course of disease in the patients we seek to treat, our research, development and regulatory plans for our product candidates, TSHA-120s eligibility for accelerated approval in the United States and Europe, the potential for these product candidates to receive regulatory approval from the FDA or equivalent foreign regulatory agencies, and whether, if approved, these product candidates will be successfully distributed and marketed, and the potential market opportunity for these product candidates. Forward-looking statements also include statements as to the accuracy of GeneDx testing and the impact of testing on treatment paths and outcomes. Forward-looking statements are based on current expectations and are subject to various risks and uncertainties that could cause actual results to differ materially and adversely from those expressed or implied by such forward-looking statements. Accordingly, these forward-looking statements do not constitute guarantees of future performance, and you are cautioned not to place undue reliance on these forward-looking statements. Risks regarding our business are described in detail in our Securities and Exchange Commission (SEC) filings, including in the respective Annual Report on Form 10-K for the full-year ended December 31, 2020, and our Quarterly Reports on Form 10-Q for us and OPKO, all of which are available on the SECs website at http://www.sec.gov. Additional information will be made available in other filings that we make from time to time with the SEC. Such risks may be amplified by the impacts of the COVID-19 pandemic. These forward-looking statements speak only as of the date hereof, and we and OPKO disclaim any obligation to update these statements except as may be required by law.

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Taysha Gene Therapies Announces Sponsored Genetic Testing for Giant Axonal Neuropathy (GAN) in Partnership with GeneDx as well as a Collaboration with...

The Krystal Decode DEB program is designed to shorten time to accurate diagnosis and facilitate the delivery of optimal care

PITTSBURGH and GAITHERSBURG, Md., Oct. 12, 2021 (GLOBE NEWSWIRE) -- Krystal Biotech, Inc., (Krystal) (NASDAQ: KRYS), the leader in redosable gene therapies for rare diseases, and GeneDx, Inc., a leader in genomic analysis and a wholly-owned subsidiary of BioReference Laboratories, Inc., an OPKO Health company (NASDAQ:OPK), today announced a collaboration offering no-charge genetic testing for all types of Epidermolysis Bullosa (EB). The goal of the program, called Krystal Decode DEB, is to help patients with the dystrophic form of this genetic condition, also known as DEB, get a definitive diagnosis sooner, with highly accurate results obtained with a blood or cheek swab sample.

"In the US, EB is too often diagnosed by clinical features alone without molecular confirmation. Since clinical features in different EB subtypes and other blistering disorders can show many similarities, a diagnosis based solely on clinical features can be inaccurate or delayed, which ultimately hurts the patients by preventing them from receiving proper care. The Krystal Decode DEB program will help accelerate and/or confirm an accurate diagnosis of DEB and empower health care providers, patients and families to make informed health decisions to facilitate optimal care delivery, said Dr. Peter Marinkovich, M.D., Blistering Disease Clinic Director and Associate Professor of Dermatology at Stanford University, and Primary Investigator for Krystals ongoing Phase 3 trial.

EB is a rare genetic connective tissue disorder that causes extremely fragile skin that blisters and tears from minor friction or trauma. There are 4 types of EB, each caused by mutations in different genes. Accurately diagnosing dystrophic EB (caused by mutations in the COL7A1 gene) is critical due to the higher risk of squamous cell cancer, internal complications and mortality.

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Epidermolysis Bullosa is a group of disorders with varied presentations, prognoses and long-term sequelae resulting from distinct gene mutations. However, many suspected EB patients do not receive diagnostic testing due to lack of insurance coverage, cost of assessment and unfamiliarity with the impact of genetic information on health care delivery, said Dr. Jeanett Segal M.D., United States Medical Director of Krystal Biotech, Inc. Fortunately, genetic tests are available and we are thrilled to work with GeneDx to offer this at no-charge to patients with EB symptoms.

The Krystal Decode DEB program utilizes a comprehensive panel of genes to identify DEB or other genetic conditions with similar phenotype to DEB, including other EB types and some other non EB skin blistering conditions, to aid in diagnosis.

Diagnosis of rare diseases like DEB can take years. Access to genetic testing as early as possible is essential to ensure people suspected of having DEB receive an accurate diagnosis and optimal treatment as soon as possible, said Dr. Paul Kruszka, M.D., F.A.C.M.G., Chief Medical Officer of GeneDx. Were pleased to be working with Krystal Biotech to make it easier for patients suspected of having DEB to receive genetic testing.

The Krystal Decode DEB program is open to all US residents, including residents of Puerto Rico, who have clinical symptoms consistent with EB and have not previously received genetic testing. More information on the Decode DEB program can be obtained by emailing krystal@genedx.com or calling 1-888-729-1206. Krystal reserves the right to amend, suspend or terminate this program without notice.

About Dystrophic EBDEB is a rare and severe monogenic disease that affects the skin and mucosal tissues. It is caused by one or more mutations in a gene called COL7A1, which is responsible for the formation of the protein type VII collagen protein (COL7) that forms anchoring fibrils that bind the dermis (inner layer of the skin) to the epidermis (outer layer of the skin). The lack of functional anchoring fibrils leads to extremely fragile skin that blisters and tears from minor friction or trauma. DEB patients suffer from open wounds, which leads to skin infections, fibrosis which can cause fusion of fingers and toes, and ultimately a significantly increased risk of developing squamous cell carcinoma of the skin, which is often fatal.

About Krystal BiotechKrystal Biotech, Inc. (NASDAQ:KRYS) is a pivotal-stage gene therapy company leveraging its novel, redosable gene therapy platform and in-house manufacturing capabilities to develop therapies to treat serious rare diseases. For more information, please visit http://www.krystalbio.com.

About GeneDxGeneDx, Inc. is a global leader in genomics, providing testing to patients and their families worldwide. Originally founded by scientists from the National Institutes of Health, GeneDx offers a world-renowned clinical genomics program with particular expertise in rare and ultra-rare genetic disorders. In addition to its market-leading exome sequencing service, GeneDx offers a suite of additional genetic testing services, including diagnostic testing for hereditary cancers, cardiac, mitochondrial, neurological disorders, prenatal diagnostics, and targeted variant testing. GeneDx is a subsidiary of BioReference Laboratories, Inc., a wholly-owned subsidiary of OPKO Health, Inc. To learn more, please visit http://www.genedx.com.

About OPKO HealthOPKO is a multinational biopharmaceutical and diagnostics company that seeks to establish industry-leading positions in large, rapidly growing markets by leveraging its discovery, development, and commercialization expertise and novel and proprietary technologies. For more information, visit http://www.opko.com.

Forward-Looking StatementsThis press release contains forward-looking statements, including with respect to the Krystal Decode DEB program, such as its ability to help accelerate and/or confirm an accurate diagnosis of DEB and empower health care providers, patients and families to make informed health decisions to facilitate optimal care delivery. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors as are set forth under the caption Risk Factors in Krystals annual and quarterly reports on file with the U.S. Securities and Exchange Commission. Krystal undertakes no duty or obligation to update any forward-looking statements contained herein as a result of new information, future events or changes in its expectations or circumstances.

CONTACTS:

Investors:

Media:

Whitney Ijem

Mary Coyle

Krystal Biotech

TellMed Strategies

wijem@krystalbio.com

mary.coyle@tmstrat.com

Source: Krystal Biotech, Inc.

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Krystal Biotech and GeneDx Announce Collaboration to Provide No-charge Genetic Testing for Patients with Suspected Dystrophic Epidermolysis Bullosa...

California Governor Newsom signed the Genetic Information Privacy Act (GIPA) into law on October 6, 2021. GIPA requires direct-to-consumer genetic testing companies to comply with certain privacy and data security requirements such as requiring consumers' affirmative consent regarding the collection, use, maintenance, and disclosure of genetic data, and enabling consumers to access and destroy their genetic data.

GIPA applies to companies that:

Licensed medical providers who are actively diagnosing or treating a patient's medical condition.

GIPA covers "genetic data," which is defined as any data, regardless of the format, that results from analysis of a biological sample from a consumer or from another element enabling equivalent information to be obtained, and concerns genetic material. Genetic material includes, but is not limited to, DNA, RNA, genes, chromosomes, alleles, genomes, alterations or modifications to DNA or RNA, SNPs, uninterpreted data that results from analysis of the biological sample, and any information extrapolated, derived, or inferred from materials in this list.

Genetic data does not include de-identified data, or a biological sample to the extent that data or a biological sample is collected, used, maintained, and disclosed exclusively for scientific research under very particular circumstances described in the law.

GIPA creates safeguards for privacy, security, and confidentiality for consumers of direct-to-consumer genetic testing. It ensures that consumers receive the required notice and have the ability to revoke consent for the use, collection, or disclosure of the consumer's genetic data.

Under GIPA, companies must do the following, among other requirements identified within the statute:

Consumers who have suffered injury in fact and lost money or property as a result of the violation of GIPA will have a private right of action. The California Attorney General and local government counsel will also prosecute GIPA through civil penalties.

GIPA will go into effect on January 1, 2022.

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Privacy Law Essentials: California's Genetic Information Privacy Act | Hinshaw Privacy & Cyber Bytes - Insights on Compliance, Best Practices, and...

Preimplantation genetic testing (PGT) of embryos during in vitro fertilization (IVF) enlightens patients of possible gene mutations prior to implantation. SGF's in-house team of researchers continues to explore PGT as a counseling tool to optimize care for generations to come.

WASHINGTON, Oct. 14, 2021 /PRNewswire-PRWeb/ -- National Breast Cancer Awareness Month reminds us that an estimated 700,000 people in the U.S. will be diagnosed with breast cancer this year alone, of which, up to 10 percent of cases are linked to an inherited gene mutation. Individuals and couples with known genetic diseases can turn to Shady Grove Fertility (SGF) to undergo in vitro fertilization (IVF) with preimplantation genetic testing for monogenic/single gene defects (PGT-M) to reduce the risk of passing genetic mutations to future offspring.

SGF can screen for over 280 recessive gene mutations, including diseases such as cystic fibrosis, Tay-Sachs disease, and spinal muscular atrophy. Additionally, patients at risk for dominant gene mutations, such as breast cancer or inherited forms of colon cancer, can have individualized testing for these diseases.

In 2019, SGF formed a partnership with breast cancer advocate and Previvor Founder, Allyn Rose, to educate patients of these interventions and the availability of fertility preservation prior to any cancer treatment.

"In the last letter that my mother wrote to me before her passing from metastatic breast cancer at age 50, she warned me of my family's predisposition to cancer and rare diseases, encouraging me to undergo in vitro fertilization (IVF) treatment to eliminate this disease," says Rose, a former Miss USA and Miss America contestant, model, and the recipient of the 21st Annual Congress on Women's Health's Advocacy Award and a Breast Cancer Summit Lifetime Achievement Award.

While Rose is not a carrier for the breast cancer gene, she is a carrier of a rare X-linked genetic mutation called Wiskott-Aldrich syndrome. Because of this genetic mutation, there would be a 50 percent chance that her future children would also become carriers of the disease. In October 2019, Rose started her IVF journey with Kate Devine, M.D., at SGF's K Street location in Washington, D.C., opting to undergo PGT-M to reduce the risk of having a child with an inherited condition. After 10 months of IVF treatment with SGF, Rose announced that she was pregnant in July 2020.

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Nearly two years after beginning their journey with SGF, Rose and her husband Christopher announced the birth of their daughter, Yve, on April 9, 2021.

"It was an incredibly fulfilling experience welcoming my daughter into the world because it felt as if my journey had come full circle," shares Rose. "For the last 10 years, I've worked as an advocate in the breast cancer community. I've spent years speaking on the importance of long-term perspective and highlighting my choice to undergo a preventive mastectomy in order to prolong my life and to conceive via IVF removing my rare genetic disease from my family tree. Now, I can hold my daughter in my arms and see that it was all worth it. Everything that I've worked towards has finally come to fruition."

"Allyn's story is a beacon of hope for women with increased cancer risk and other genetic risk factors," says Dr. Devine. "IVF with PGT-M is a safe and reliable means of fertility treatment for people who want to reduce risk of known genetic mutations in their children. I'm so happy that Allyn underwent treatment to reduce her own familial breast cancer risk and that she and that her baby girl is free of Wiskott-Aldrich gene mutations."

While Rose was proactive with preventive family-building measures, more awareness and education is needed on the topic. SGF is slated to present research findings on genetic testing in the infertility population for those at increased risk at the 2021 ASRM Scientific Congress and Expo, taking place in Baltimore from October 1721.

The study, which was honored with the ASRM 2021 Corporate Member Council In-Training Award, concludes that an overwhelming majority of eligible fertility patients are declining cancer genetic testing despite receiving focused genetic counseling regarding the recommendation to pursue testing as well as the opportunity to potentially minimize the cancer risk of future offspring.

"Prior to initiating fertility treatment, all patients who participated in the study received focused genetic counseling informing them that if one parent has a hereditary cancer-predisposing mutation, there is a 50% risk that any child will have it too," explains Dr. Devine, who also serves as SGF's Director of Research. "We will continue to research the underlying 'why' behind these decisions to evolve future care models that offer the safest and healthiest outcomes for our patients."

"Making the decision to pursue IVF with PGT is a very personal one," adds Rose. "But I am a strong proponent of pursuing all options available in order to give children the best possible opportunity to thrive in life. We are so fortunate to live in a world where we can now reduce the inheritance of deadly genetic diseases via IVF. It's such an incredible gift and I am fortunate to have had the opportunity to give my children a better outlook than I had."

SGF is also dedicated to helping patients with cancer receive fertility preservation care. SGF has a specially trained team that works specifically with people with cancer to ensure the fertility preservation process before cancer treatment can be expedited in order that cancer treatment can quickly begin. The oncofertility team at SGF helps to guide patients through each step of the treatment process, from finding ways to afford treatment to the actual medical procedure.

If you would like to learn more about SGF's oncofertility treatment options or to schedule an appointment, please call the New Patient Center at 1-888-761-1967 or complete this brief online form.

About Shady Grove Fertility (SGF) SGF is a leading fertility and IVF center of excellence with more than 100,000 babies born. With 43 locations, including new locations in Colorado and Norfolk, VA, as well as throughout CO, FL, GA, MD, NY, PA, VA, D.C., and Santiago, Chile, SGF offers patients virtual physician consults, delivers individualized care, accepts most insurance plans, and makes treatment more affordable through innovative financial options, including 100% refund guarantees. More physicians refer their patients to SGF than any other center. SGF is among the founding partner practices of US Fertility, the largest physician-owned, physician-led partnership of top-tier fertility practices in the U.S. Call 1-888-761-1967 or visit ShadyGroveFertility.com.

Media Contact

Jean Dzierzak, Shady Grove Fertility, 301-545-1375, jean.dzierzak@sgfertility.com

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-- New data in patients with POMC or LEPR deficiency obesity show setmelanotide led to clinically meaningful improvements in health related quality of life measures and hunger -- -- Updated results from Uncovering Rare Obesity testing program suggest up to 64.5 percent of individuals with early-onset, severe obesity may carry variants linked to rare genetic diseases of obesity -- -- Additional posters include encore presentations of data from Phase 3 trial evaluating setmelanotide in BBS and Phase 2 trial in HET obesity, as well as Phase 1b trial evaluating once-weekly setmelanotide --

BOSTON, Oct. 14, 2021 (GLOBE NEWSWIRE) -- Rhythm Pharmaceuticals, Inc. (Nasdaq: RYTM), a commercial-stage biopharmaceutical company committed to transforming the care of people living with rare genetic diseases of obesity, today presented the first-ever data on the health related quality of life (HRQOL) and experience of patients with obesity due to POMC or LEPR deficiency and updated results from the Uncovering Rare Obesity (URO) genetic testing program at the Obesity Medicine Associations Overcoming Obesity 2021 Conference and its Digital Experience (DX) Oct. 14-23.

The Company and its collaborators delivered four poster presentations, including:

New HRQOL data from post-hoc analyses of Phase 3 trials evaluating setmelanotide in patients with POMC or LEPR deficiency obesity that showed setmelanotide treatment led to sustained, clinically meaningful HRQOL improvements in a majority of patients;

New results from a study based on in-depth patient interviews conducted in patients with POMC and LEPR deficiency obesity enrolled in Rhythms pivotal Phase 3 trials, which highlighted that the reduced hunger and improved satiety resulting from setmelanotide treatment substantially and meaningfully changed patients lives; and

Two presentations detailing updated results from Rhythms URO genetic testing of approximately 8,500 people in the United States with early-onset, severe obesity project that:

64.5% of individuals who had genetic sequencing performed may carry variants associated with rare genetic diseases of obesity, including 54.6% with variants in the melanocortin-4 receptor (MC4R) pathway that may qualify them for enrollment in Rhythms EMANATE or DAYBREAK trials or for treatment with IMCIVREE; and

1.96% of individuals who had genetic sequencing performed may carry biallelic variants in one of 22 Bardet-Biedl Syndrome (BBS)-associated genes or the ALMS1 gene, of which up to 0.34% carried variants considered pathogenic or likely pathogenic.

These new data contribute to the growing body of evidence that supports setmelanotides potential to deliver clinically meaningful weight loss and clinically meaningful improvements in patient reported hyperphagia, as well as HRQOL, reinforcing the value of setmelanotides potential for the treatment of rare genetic diseases of obesity of the MC4R pathway, said Linda Shapiro, M.D., Ph.D., Chief Medical Officer of Rhythm. As we prepare to initiate our next wave of clinical trials, we are encouraged by these new results from the URO genetic testing program, which suggest the potential prevalence of genetic variants among people living with early-onset, severe obesity. These results reinforce the importance of genetic testing for clinical decision making in individuals with early-onset, severe obesity and hyperphagia and support our plans to initiate the Phase 3 EMANATE and Phase 2 DAYBREAK trials later this year, which will expand our clinical development of setmelanotide into patients with variants in any of 36 genes that may impair the MC4R pathway.

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New HRQOL Data and Patient-reported Experience of Hunger from Phase 3 Trials in POMC and LEPR Deficiency ObesitiesInvestigators presented two posters with data generated from post-hoc analyses of the Companys Phase 3 trials in POMC and LEPR deficiency obesities.

In a presentation entitled, Quality of Life in POMC or LEPR Deficiency: Setmelanotide Phase 3 Trials, Peter Khnen, M.D., Charit - Universittsmedizin Berlin, Corporate Member of Freie Universitt Berlin und Humboldt-Universitt zu Berlin, Institute for Experimental Pediatric Endocrinology presented data on the HRQOL burden improvements before and after treatment with setmelanotide.1 Highlights include:

Setmelanotide resulted in clinically meaningful improvement in HRQOL in eight of 13 (73%) of patients after 52 weeks of treatment, with improvements in HRQOL that were 2 to 3 times larger than the relevant meaningful threshold; and

Meaningful HRQOL improvements were observed as early as Week 5 on therapy, and these improvements were maintained throughout the study as they mirrored clinically meaningful hunger reductions and weight loss in these patients.

Martin Wabitsch, M.D. Division of Pediatric Endocrinology and Diabetes, Center for Rare Endocrine Diseases, Department of Pediatrics and Adolescent Medicine, University of Ulm, Ulm, Germany, presented qualitative data from a series of patient interviews in a poster entitled, Patient Experience of Hunger in POMC or LEPR Deficiency. Patients reported that hyperphagia and the constant inability to feel satiety negatively affects their HRQOL, while reduced hunger and improved satiety achieved on setmelanotide therapy substantially and meaningfully changed their lives, profoundly improving their ability to function at school or work. Additionally, these patients reported that discontinuing treatment with setmelanotide would be devastating.

The results of these studies underscore the tremendous burden of POMC and LEPR deficiency obesity, better characterizing the experience of people living with these conditions and highlighting the significant impact of severe obesity and insatiable hunger on their daily lives, said Dr. Khnen. Importantly, these data suggest setmelanotide can deliver clinically meaningful HRQOL benefits, reducing the significant burden of disease by providing patients with improvements in their feelings of insatiable hunger, in addition to substantial weight loss. These results further reinforce the value of setmelanotide as the first U.S., EU and UK-approved precision medicine for chronic weight management in POMC and LEPR deficiency obesities.

Updated Data from the URO Testing ProgramIda Moeller, ScD, ScM, MMSc, Director of Biomedical Informatics at Rhythm, presented, Variants in Obesity-related Genes in a Population with Early-onset Obesity. Rhythms URO testing program is designed to expand access to genetic testing for patients with suspected rare genetic diseases of obesity in the U.S. As of July 12, 2021, Rhythm had collected genetic sequences from approximately 8,500 individuals with early-onset, severe obesity, including 788 individuals who had genetic sequencing performed on the Companys updated genetic panel with 79 genes and the full chromosomal region 16p11.2.

Based on an integrated yield weighted by the number of individuals sequenced for each gene, utilizing the data from the two panels (the original panel and the updated expanded panel), Rhythm projects that 64.5% of individuals sequenced may carry actionable variants linked to rare genetic diseases of obesity.2 Rhythm also estimates that 54.6% of individuals sequenced carry variants in the MC4R pathway that may qualify them for enrollment in Rhythms EMANATE or DAYBREAK trials or commercial treatment with IMCIVREE.

Additionally, Dr. Robert Haws, M.D., Marshfield Clinical Research Institute, presented, Frequency of BBS and ALMS1 Variants in a Cohort With Early-onset Obesity. Based on updated URO results, the Company projects that 0.34% of individuals with early-onset, severe obesity may carry pathogenic or likely pathogenic variants in genes known to be associated with BBS or Alstrom syndrome (or 0.24%, excluding patient samples from a leading BBS clinic where higher frequency of BBS-related variants would expected). Including patients with variants of unknown significance (VUS), Rhythm estimates that 1.96% of individuals with early-onset, severe obesity may carry biallelic variants in one of 22 known BBS-associated genes or ALMS1.3

Also at the Overcoming Obesity 2021 Conference, Rhythm and its collaborators presented three additional abstracts as posters, all of which detailed previously reported clinical data:

Efficacy and Safety of the Melanocortin-4 Receptor Agonist Setmelanotide in Obesity Due to Bardet-Biedl Syndrome: a Phase 3 Trial, as presented by Dr. Robert Haws, M.D., Marshfield Clinical Research Institute;

Setmelanotide in POMC, PCSK1, or LEPR Heterozygous Deficiency Obesity (Phase 2), as presented by Sadaf Farooqi, Ph.D., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge Biomedical Research Centre, University of Cambridge;

Trial of a Once-Weekly Setmelanotide Formulation in Patients with Obesity, as presented by Annette Valles-Sukkar, Director Clinical Operations, Rhythm Pharmaceuticals.

All Rhythms presentations from Obesity Medicine Associations Overcoming Obesity 2021 Conference and its Digital Experience will be available on the Publication and Presentations section of its website: https://www.rhythmtx.com/publications/ .

About Rhythm PharmaceuticalsRhythm is a commercial-stage biopharmaceutical company committed to transforming the treatment paradigm for people living with rare genetic diseases of obesity. Rhythms precision medicine, IMCIVREE (setmelanotide), was approved in November 2020 by the U.S. Food and Drug Administration (FDA) for chronic weight management in adult and pediatric patients 6 years of age and older with obesity due to POMC, PCSK1 or LEPR deficiency confirmed by genetic testing and in July and September 2021, respectively, by the European Commission (EC) and Great Britains Medicines & Healthcare Products Regulatory Agency (MHRA) for the treatment of obesity and the control of hunger associated with genetically confirmed loss-of-function biallelic POMC, including PCSK1, deficiency or biallelic LEPR deficiency in adults and children 6 years of age and above. IMCIVREE is the first-ever FDA-approved and EC- and MHRA-authorized therapy for patients with these rare genetic diseases of obesity. Rhythm is advancing a broad clinical development program for setmelanotide in other rare genetic diseases of obesity, and is leveraging the Rhythm Engine and the largest known obesity DNA database -- now with approximately 37,500 sequencing samples -- to improve the understanding, diagnosis and care of people living with severe obesity due to certain genetic deficiencies. Rhythms headquarters is in Boston, MA.

IMCIVREE (setmelanotide) IndicationIn the United States, IMCIVREE is indicated for chronic weight management in adult and pediatric patients 6 years of age and older with obesity due to proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency. The condition must be confirmed by genetic testing demonstrating variants in POMC, PCSK1, or LEPR genes that are interpreted as pathogenic, likely pathogenic, or of uncertain significance (VUS).

In the EU and Great Britain, IMCIVREE is indicated for the treatment of obesity and the control of hunger associated with genetically confirmed loss-of-function biallelic POMC, including PCSK1, deficiency or biallelic LEPR deficiency in adults and children 6 years of age and above. IMCIVREE should be prescribed and supervised by a physician with expertise in obesity with underlying genetic etiology.

Limitations of UseIMCIVREE is not indicated for the treatment of patients with the following conditions as IMCIVREE would not be expected to be effective:

Obesity due to suspected POMC, PCSK1, or LEPR deficiency with POMC, PCSK1, or LEPR variants classified as benign or likely benign;

Other types of obesity not related to POMC, PCSK1 or LEPR deficiency, including obesity associated with other genetic syndromes and general (polygenic) obesity.

Important Safety Information

WARNINGS AND PRECAUTIONS

Disturbance in Sexual Arousal: Sexual adverse reactions may occur in patients treated with IMCIVREE. Spontaneous penile erections in males and sexual adverse reactions in females occurred in clinical studies with IMCIVREE. Instruct patients who have an erection lasting longer than 4 hours to seek emergency medical attention.

Depression and Suicidal Ideation: Some drugs that target the central nervous system, such as IMCIVREE, may cause depression or suicidal ideation. Monitor patients for new onset or worsening of depression. Consider discontinuing IMCIVREE if patients experience suicidal thoughts or behaviors.

Skin Pigmentation and Darkening of Pre-Existing Nevi: IMCIVREE may cause generalized increased skin pigmentation and darkening of pre-existing nevi due to its pharmacologic effect. This effect is reversible upon discontinuation of the drug. Perform a full body skin examination prior to initiation and periodically during treatment with IMCIVREE to monitor pre-existing and new skin pigmentary lesions.

Risk of Serious Adverse Reactions Due to Benzyl Alcohol Preservative in Neonates and Low Birth Weight Infants: IMCIVREE is not approved for use in neonates or infants.

ADVERSE REACTIONS

The most common adverse reactions (incidence 23%) were injection site reactions, skin hyperpigmentation, nausea, headache, diarrhea, abdominal pain, back pain, fatigue, vomiting, depression, upper respiratory tract infection, and spontaneous penile erection.

USE IN SPECIFIC POPULATIONSDiscontinue IMCIVREE when pregnancy is recognized unless the benefits of therapy outweigh the potential risks to the fetus.

Treatment with IMCIVREE is not recommended for use while breastfeeding.

To report SUSPECTED ADVERSE REACTIONS, contact Rhythm Pharmaceuticals at +1 (833) 789-6337 or FDA at 1-800-FDA-1088 or http://www.fda.gov/medwatch.

See Full Prescribing Information, EU SmPC and MHRA SmPC for IMCIVREE.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. All statements contained in this press release that do not relate to matters of historical fact should be considered forward-looking statements, including without limitation statements regarding the potential, safety, efficacy, and regulatory and clinical progress of setmelanotide, our expectations surrounding potential regulatory submissions, approvals and timing thereof, our business strategy and plans, including regarding commercialization of setmelanotide, and our participation in upcoming events and presentations. Statements using word such as expect, anticipate, believe, may, will and similar terms are also forward-looking statements. Such statements are subject to numerous risks and uncertainties, including, but not limited to, our ability to enroll patients in clinical trials, the design and outcome of clinical trials, the impact of competition, the ability to achieve or obtain necessary regulatory approvals, risks associated with data analysis and reporting, our liquidity and expenses, the impact of the COVID-19 pandemic on our business and operations, including our preclinical studies, clinical trials and commercialization prospects, and general economic conditions, and the other important factors discussed under the caption Risk Factors in our Quarterly Report on Form 10-Q for the quarterly period ended June 30, 2021 and our other filings with the Securities and Exchange Commission. Except as required by law, we undertake no obligations to make any revisions to the forward-looking statements contained in this release or to update them to reflect events or circumstances occurring after the date of this release, whether as a result of new information, future developments or otherwise.

Corporate Contact:David ConnollyHead of Investor Relations and Corporate CommunicationsRhythm Pharmaceuticals, Inc.857-264-4280dconnolly@rhythmtx.com

Investor Contact:Hannah DeresiewiczStern Investor Relations, Inc.212-362-1200hannah.deresiewicz@sternir.com

Media Contact:Adam DaleyBerry & Company Public Relations212-253-8881adaley@berrypr.com

_______________________________1 Assessments were taken for patients in Rhythms Phase 3 trials who experienced weight loss of at least five kilograms (or at least five percent of baseline body weight for the patients who weighed less than 100 kg). QOL was assessed using the Impact of Weight on Quality of Life-Lite (IWQOL-Lite) scale for patients 18 years or older, and using the Pediatric Quality of Life Inventory (PedsQL) for children and adolescents aged 8 to 12 and 13 to 17 years, respectively.2 The 64.5% figure represents a weighted yield from 8,599 URO samples collected as of July 12, 2021. Prior to May 2021, Rhythms URO panel tested for variants in 40 obesity-related genes, including 11 genes eligible for the DAYBREAK or EMANATE trials; data for those 11 genes is available in all 8,599 samples. Rhythm launched URO 2.1/3.0 in early May 2021, which now sequences 79 obesity-related genes and the 16p11.2 chromosomal region, including 25 additional DAYBREAK/EMANATE genes. Data on all 79 genes (including all 36 DAYBREAK/EMANATE genes) was available for 788 patients, and then used to calculate a weighted yield across the total study population.3 Data on the frequency of BBS and ALMS1 variants were collected from URO samples as of July 5, 2021, which included a smaller sample size of 8,459 sequenced individuals.

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Hyris developed a rapid T-cell test to track patients' immunity levels to SARS-CoV-2 for global clinical use after having inked an exclusive licensing agreement with Duke-NUS Medical School. This new solution leverages the Hyris SystemTM, a proprietary platform that enables genetic testing in any setting, at any time, with results available in real-time through its AI-powered platform.

Hyris supports research over COVID-19 Immunity

LONDON, Oct. 14, 2021 (GLOBE NEWSWIRE) -- After almost two years of fight against COVID-19, governments, NGOs, and corporations are now focusing on strategies and solutions to boost population immunity and move onto the next phase - possibly out of the pandemic.

Hyris, a global, innovation-based biotechnology company renowned for its inclusive approach to genetic analysis, offers a wide range of solutions to support medical professionals and decision-makers in the fight against COVID-19. The proprietary genetic testing Hyris SystemTM has been successfully used to detect the presence of the Coronavirus on surfaces and environments (the SARS-CoV-2 Environmental test) and the infection COVID-19 into individuals (SARS-CoV-2 Human test). The tests have been able to reliably detect the presence of all the main Variants of Concern since July 2020, helping to keep people safe around the world effectively.

"Alongside with limiting the spread of SARS-CoV-2 new variants and potential hotspots, getting high immunity rates among populations is the number one priority for policymakers and health institutions," says Stefano Lo Priore, Founder and CEO at Hyris. "Hyris integrated its solutions with a simple yet effective test, to measure a patient T-cell immune response to the SARS-CoV-2 virus, which causes COVID-19."

The T-cell clinical test kit was developed through an exclusive licensing agreement between Hyris and Duke-NUS Medical School. "This new kit enables quick evaluation of T-cell immune responses in COVID-19 convalescent patients as well as vaccinated people," adds Isabella Della Noce, Chief Biologist at Hyris. "This is a new dimension for vaccine strategies as we face the threat of new virus variants."

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Led by Professor Antonio Bertoletti from the Programme in Emerging Infectious Diseases at Duke-NUS, the research team discovered a simple and rapid method to measure the T-cell immune response to the SARS-CoV-2 virus. The study, titled "Rapid measurement of SARS-CoV-2 spike T cells in whole blood from vaccinated and naturally infected individuals", was published in the Journal of Clinical Investigation.

According to Duke-NUS' press release, this discovery allows a rapid and large-scale expansion of studies to track T-cell activity across the world while not requiring specialised or expensive equipment, helping to define the correlates of protection from T-cells and antibodies for the development of COVID-19 vaccines.

Many progressive organisations and medical centres worldwide have already chosen the Hyris System as the ideal 'Point of Care' solution in the fight against COVID-19. Such a test is a prime example of how scientific innovation is key to the fight against the SARS-CoV-2 virus. "Today, more than ever before, we need wider access to diagnostic systems and tests, but also to support and validate vaccination campaigns around the world," concludes Lo Priore.

Contact a Hyris expert to discover how to perform beyond your current diagnostic capability info@hyris.net.

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The Direct-to-consumer Genetic Testing market report provides a granular assessment pertaining to the key development trends and dynamics impacting this industry landscape over the analysis timeframe. It offers significant inputs with respect to the regulatory outlook as well as geographical landscape of this business space. The study also elaborates on the factors that are positively influencing the overall market growth and encloses a detailed SWOT analysis. Additionally, the document comprises of limitations & challenges impacting the future remuneration and y-o-y growth rate of this market.

The report offers an in-depth analysis of the competitive landscape alongside raw materials and downstream buyers of Direct-to-consumer Genetic Testing market. Moreover, the study assesses the effect of COVID-19 pandemic on the growth opportunities of this industry vertical.

Elaborating on the competitive landscape of Direct-to-consumer Genetic Testing market:

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Global Direct-to-consumer Genetic Testing Market Market Overview

Global Direct-to-consumer Genetic Testing Market Industry Trends

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Direct-to-consumer Genetic Testing Market 2021 Global Outlook, Research, Trends and Forecast to 2026 - Northwest Diamond Notes

The company is leveraging success with its COVID-19 tests to position itself better for a post-pandemic world. Key Points

Fulgent Genetics' (NASDAQ:FLGT) sales soared thanks to its COVID-19 tests. Its stock more than quadrupled in 2020 and is up over 50% so far this year. In this Motley Fool Live video recorded on Sept. 29, 2021, Motley Fool contributors Keith Speights and Brian Orelli discuss what's going on now with Fulgent.

Keith Speights: Your thoughts on Fulgent Genetics, ticker is FLGT?

Brian Orelli: The company is still developing genetic tests, which was what they were doing before the pandemic. They're still doing COVID-19 testing, which is what they pivoted or added during the pandemic. Then they are using all that cash that they're getting from the COVID-19 to expand fairly quickly.

They bought a company that does more other types of tests for cancers, looking at imaging the tumors and that thing and looking at the chromosomes. I think that they are using that to expand their offerings, so now that they will be able to do genetic testing on the tumors, but also offer other services. That should make them a one-stop-shop for tumors.

They also did a deal with another company that has a predictive test, I believe, for cancer. They're partnering with that company. The other one was an acquisition where they just bought the whole testing facility to expand their offerings in cancer.

This article represents the opinion of the writer, who may disagree with the official recommendation position of a Motley Fool premium advisory service. Were motley! Questioning an investing thesis -- even one of our own -- helps us all think critically about investing and make decisions that help us become smarter, happier, and richer.

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People who are at a greater risk for developing, or have previously received a diagnosis of, a hereditary cancer have an acceptable method available to them to identify what the chances of passing those and other genetic mutations on to their future children are.

The procedure, known as preimplantation genetic testing, helps identify what, if any, genetic abnormalities are present in embryos that were created during the process of in vitro fertilization (IVF).

This procedure may effectively aid people with a previous diagnosis, or risk, of hereditary cancer from passing those genetic mutations on to future offspring.

During the recent 12th Annual Joining FORCES Against Hereditary Cancer Conference, Dr. Terri L. Woodard, an associate professor in the Department of Gynecologic Oncology and Reproductive Medicine at The University of Texas MD Anderson Cancer Center in Houston, discussed the topic of fertility preservation and parenting issues that cancer survivors and previous often face. Moreover, Woodard highlighted what people should know about certain genetic testing procedures.

Increase in Genetic Mutations

Woodard noted that previous research has shown that adolescents and young adults diagnosed with cancers that are frequently associated with old age often have a higher percentage of inherited cancer mutations.

However, she explained, those rates are higher than were once thought.

In fact, Woodard cited a study of more than 1,000 adolescents aged between 18 years and 39 years and noted that the results demonstrated that approximately 21% of the participants diagnosed with early-onset cancer had a germline mutation. Only 13% of the remaining patients had a germline mutation.

This just highlights the fact that many of these young individuals have genetic mutations that can be passed down along to their offspring, she said. Because these patients are younger, there are often fertility and family building issues that arise.

Fertility and Future Family Planning Concerns

There are several genetic conditions associated with a greater cancer risk, according to Woodard. If people have any of those conditions, they are likely to want to pursue genetic testing. For instance, she highlighted hereditary breast and ovarian cancer syndrome. Woodard noted that many of these patients may experience some form of infertility at a younger age than other people. These patients also may need to undergo risk-reducing surgeries to prevent ovarian cancer.

Another condition, known as Li-Fraumeni syndrome, is associated with a greater risk for developing sarcomas, central nervous system tumors, breast cancer and gonadal germ cell tumors all of which, according to Woodard, negatively affect a persons fertility.

Thats why, she said, many of these individuals need to be partaking in fertility preservation conversations with their care team.

Additionally, some of these cancers may require treatment that negates a persons ability to have children.

Fertility Preservation Methods

Woodard shared insight on some of the fertility preservation methods that people have access to. She noted that eggs, embryos and sperm can all be frozen for use later. Ovarian and testicular tissue freezing are also possibilities, according to Woodard.

Another option available to patients who require radiation to the areas surrounding their reproductive organs is gonadal shielding. In this instance, radiology technicians use protective shields to minimize radiation exposure to certain areas.

People can also go through an experimental approach known as ovarian suppression. Woodard explained that a gonadotropin-releasing hormone agonist is used in women to suppress the ovary during chemotherapy.

The thought is that a quiet ovary is more resistant to the effects of chemotherapy than one that is actively cycling, she said during her presentation.

She cautioned, however, that the data that are available on this approach are quite variable.

Family Building Options

There are a great range of opportunities available to patients when deciding to have a family, Woodard explained. Depending on their comfort levels, she said, options available to patients range from natural conception to IVF and plenty more.

For people who may have premature ovarian failure because of their cancer treatment, there is an option to use donor eggs, sperm or embryos. There are also gestational carriers for women who may no longer have a uterus or are deemed too high risk to carry a pregnancy to full-term.

And lastly, Woodard noted that people can pursue adoption. However, she explained, it can sometimes be difficult for people with a history of cancer to adopt.

Sometimes adoption can be challenging for survivors of cancer because some agencies see it as too risky and do not allow those patients to have kind of the initial screening, she said. Asking an adoption agency, whether a cancer diagnosis will disqualify them early on, is a very important question for patients to ask.

Genetic Testing for Future Children

Woodard concluded her discussion by reviewing genetic testing methods that are available for patients to use for assessing the possibility of passing inherited mutations down to future children.

Patients who are already pregnant may use prenatal genetic testing, she said. Prenatal screening lets the parents know what the chances are that the child would have abnormal genetics. Diagnostic prenatal tests are slightly different in that they can show if a fetus is affected with a certain disorder.

The problem with prenatal genetic testing is that the patient is already pregnant, she said. If we find an abnormality, it really has some implications and has patients (making) some hard decisions on whether they would want to continue the pregnancy or not.

For those patients who are not yet pregnant and may be considering IVF, preimplantation genetic testing is a viable option.

Woodard explained that an embryo is tested after the initial IVF prior to transplanting the embryo back into the patients uterus. There are several types of preimplantation genetic testing, but one specifically tests the embryo for a specific gene.

If a woman is a carrier of a BRCA mutation, and she wants to test her embryo for that mutation, this is the type of testing we would use, she explained.

Although some consider preimplantation genetic testing to be unethical or controversial because some people use it for sex selection of their baby Woodard noted its a viable option for many trying to start a family without passing genetic mutations down to their offspring.

(Preimplantation genetic testing) is an acceptable method to prevent transmission of mutations to offspring, but requires in-depth genetic counseling and support, she concluded.

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Novel Procedure Considered an 'Acceptable Method' to Preventing Transmission of Hereditary Cancer Mutations to Children - Curetoday.com

Expanded in-house testing capabilities enable faster and more accurate diagnosis, prognosis and treatment planning for a wide variety of cancers.

Florida Cancer Specialists & Research Institute (FCS) recently expanded its molecular testing capabilities at its state-of-the-art Pathology Laboratory in Fort Myers and is providing patients with clinical next-generation sequencing (NGS) that are offered at FCS clinics throughout Florida. NGS testing is available for testing of solid tumors and hematologic malignancies and lymph nodes.

Through its NGS tests, FCS pathologists can detect oncogenic mutations in hundreds of different genes, tumor mutational burden and microsatellite instability simultaneously. This form of genetic testing allows clinicians to make faster diagnoses of a wide range of cancers while providing recommendations for clinical trials options and personalized therapies based on each patients results.

This latest innovation has been a collaboration and strategic vision of FCS executive and physician leadership along with the medical and clinical teams at the FCS Pathology Lab. Having NGS capabilities and resources housed and managed within the organization further complements FCS genetics counseling capabilities by enabling the development of more comprehensive risk assessments.

FCS Chief Executive Officer Nathan H. Walcker said, We see tremendous clinical and strategic value to performing this very important testing in-house. With genomic testing, we are providing our physicians with enhanced tools to optimize treatment options for our patients, including improved clinical trial matching opportunities.

Adding Next Generation Sequencing capabilities is very exciting and will certainly open up more clinical trial opportunities for our patients and practice, said Manish Patel, MD, FCS Director of Drug Development. We have many clinical trials that involve molecularly targeted therapies, and these will now be more efficiently matched to our patients mutational profiles.

This level of advanced laboratory services is rarely available from a community oncology practice, Walcker continued. Our continuous investments in the highest quality and most advanced technologies and the partnerships we have established with globally recognized industry leaders further enhances our ability to deliver truly personalized medicine to our patients, leading to more positive outcomes.

According to FCS President & Managing Physician Lucio Gordan, Centralized NGS capabilities can help drive the ultimate patient-centered goal of more personalized therapy and increased cure and response rates through faster molecular diagnosis and treatment planning. NGS testing can provide us with a clearer and more distinct understanding of each patients individual diagnosis, he concludes.

FCS established critical partnerships with global technology and software leaders in NGS testing and has built the fundamental infrastructure for the success of the lab that includes a dedicated laboratory geneticist, molecular pathologist and supporting clinical experts.

Following FCS clinical research and development, together with its independent test validations of Illumina 500+ solid tumor panel; Invitae VariantPlex Myeloid panel and the Invitae FusionPlex PanHeme panel on the Illumina NextSeq 550Dx sequencing platform, FCS is now able to offer these tests to current patients.

The genetic test results are analyzed and interpreted by FCS variant scientists using the PierianDx CGW software. Powered by a comprehensive knowledgebase and secure, scalable data analysis platform, PierianDx CGW will enable FCS to perform quick and accurate classification and interpretation of the results to help identify FDA-approved therapies or match patients within the practices large network of participating clinical trials.

The launch of the NGS lab and testing capabilities has been positively received among physicians and clinicians throughout FCS. Providing NGS capabilities and expertise inhouse greatly enhances access and integration of molecular testing into precision treatment planning, said FCS Assistant Managing Physician Michael Diaz, MD.

Having Florida Cancer Specialists and Research Institute as a customer represents another important step in our journey to bring genomic solutions to the fight against cancer, said Phil Febbo, MD, Chief Medical Officer at Illumina. By unlocking the power of the genome, we will help researchers and clinicians process, analyze and make genomic data more accessible to advance future cancer care and improve outcomes.

As pioneers in genetics, Invitae is focused on making genetic information available to as many people as possible who can benefit from it. We are delighted and proud to begin this strategic collaboration with FCS and applaud the practice for embracing and investing in this groundbreaking approach. It will not only expand access to genetic testing but will truly transform oncology care in the years to come, said Robert Daber, Chief Scientific Officer, Oncology, of Invitae.

We are thrilled to provide our best-in-class bioinformatics and knowledge platform to support personalized, community-based cancer care, states Mark McDonough, CEO of PierianDx. Partnering with leading-edge institutions like Florida Cancer Specialists aligns with our mission to democratize clinical genomics and to vastly advance the precision and accuracy of cancer care.

Recognized by the American Society of Clinical Oncology (ASCO) with a national Clinical Trials Participation Award, Florida Cancer Specialists & Research Institute (FCS) offers patients access to more clinical trials than any private oncology practice in Florida. In the past four years, the majority of new cancer drugs approved for use in the U.S. were studied in clinical trials with Florida Cancer Specialists participation. * Trained in prestigious medical schools and research institutes, our physicians are consistently ranked nationally as Top Doctors by U.S. News & World Report.

Founded in 1984, Florida Cancer Specialists has built a national reputation for excellence that is reflected in exceptional and compassionate patient care, driven by innovative clinical research, cutting-edge technologies and advanced treatments, including targeted therapies, genomic-based treatment, and immunotherapy. Our highest values are embodied by our outstanding team of highly trained and dedicated physicians, clinicians and staff.

Read more:
Florida Cancer Specialists & Research Institute Expands Next Generation Genomic Testing Capabilities to Advance Cancer Care - OncLive

PEOPLE who have at least two grandparents from the Scottish Traveller community are urged to take part in the first genetic study of the group.

Edinburgh University researchers are seeking to understand how Scottish Travellers relate to Irish Travellers, English Gypsies and Welsh Kale, as well as those in settled communities.

Those who take part will be asked to provide a saliva sample for genetic testing, as well as complete a survey about their health and lifestyles.

Previous research helped to define the Irish Traveller community as a distinct ethnic group, the university said.

Lead researcher, Professor Jim Wilson, said: Scottish Traveller groups have never been involved in studies using the power of modern genetics. I was delighted to be asked by representatives of this community to carry out a study that will reveal how the Traveller communities fit into the genetic landscape of Scotland and the British Isles.

Samantha Donaldson, a Scottish Traveller from Dunfermline and a member of the studys public involvement panel, said: For us Travellers, also known as Nacken, this study could be very useful.

Many myths surround our origins, so the study could potentially prove or disprove some of these stories. Travellers have some of the greatest health inequalities in Scotland.

If we are genetically predisposed to certain conditions more than other groups, or if we have illnesses that are more likely to affect us,

then health professionals may be able to use data to address some of these inequalities.

See original here:
People urged to take part in genetic study of Scottish Traveller community - The National

FACTS AT A GLANCEEdition:9;Released:April 2021Executive Pool:383Companies:42 - Players covered include Alta Genetics, Inc.; Animal Genetics Inc.; Crv Holding B.V.; Envigo, Inc.; Ew Group GmbH; Genus PLC; Hendrix Genetics BV; Neogen Corporation; Vetgen; Zoetis, Inc. and Others.Coverage:All major geographies and key segmentsSegments:Product & Service (Live Animals, Genetic Materials, Animal Genetic Testing Services)Geographies:World; United States; Canada; Japan; China; Europe (France; Germany; Italy; United Kingdom; and Rest of Europe); Asia-Pacific; Rest of World.

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ABSTRACT-

Global Animal Genetics Market to Reach $7 Billion by 2026Amid the COVID-19 crisis, the global market for Animal Genetics estimated at US$4.6 Billion in the year 2020, is projected to reach a revised size of US$7 Billion by 2026, growing at a CAGR of 7% over the analysis period. Live Animals, one of the segments analyzed in the report, is projected to record a 7.6% CAGR and reach US$5.1 Billion by the end of the analysis period. After a thorough analysis of the business implications of the pandemic and its induced economic crisis, growth in the Genetic Materials segment is readjusted to a revised 6.8% CAGR for the next 7-year period.

The U.S. Market is Estimated at $1.5 Billion in 2021, While China is Forecast to Reach $1.2 Billion by 2026The Animal Genetics market in the U.S. is estimated at US$1.5 Billion in the year 2021. China, the world`s second largest economy, is forecast to reach a projected market size of US$1.2 Billion by the year 2026 trailing a CAGR of 6.5% over the analysis period. Among the other noteworthy geographic markets are Japan and Canada, each forecast to grow at 6.6% and 5.6% respectively over the analysis period. Within Europe, Germany is forecast to grow at approximately 5.7% CAGR.

Animal Genetic Testing Services Segment to Reach US$836.6 Million by the year 2026In the global Animal Genetic Testing Services segment, USA, Canada, Japan, China and Europe will drive the 4.4% CAGR estimated for this segment. These regional markets accounting for a combined market size of US$514.3 Million in the year 2020 will reach a projected size of US$696.9 Million by the close of the analysis period. China will remain among the fastest growing in this cluster of regional markets. More

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Originally posted here:
New Analysis from Global Industry Analysts Reveals Steady Growth for Animal Genetics, with the Market to Reach $7 Billion Worldwide by 2026 -...