LogicBio Therapeutics names Daphne Karydas and Jeff Goater to Board of Directors – BioSpace

LEXINGTON, Mass., Dec. 14, 2020 /PRNewswire/ --LogicBio Therapeutics Inc. (Nasdaq: LOGC), a clinical stage genetic medicines company developing therapies based on advanced gene editing technology and next-generation synthetic capsids, today announced that Daphne Karydas and Jeff Goater have been appointed to the Company's board of directors.

"We are excited to welcome Daphne and Jeff. They both bring an impressive depth of experience and proven leadership in the areas of corporate finance, global strategic planning, mergers and acquisitions and strategic partnerships in the biopharma sector," said Frederic Chereau, LogicBio president and CEO. "As we plan for many major developments at LogicBio including initiation of our phase 1/2 SUNRISE clinical trial for LB-001, we believe their expertise will play a central role in guiding our corporate strategic planning and help us reach new levels of momentum in all operational areas."

Ms. Karydas is chief financial officer at Syndax Pharmaceuticals, a clinical stage biopharmaceutical company developing an innovative pipeline of cancer therapies. Previously, she served as senior vice president of corporate financial planning & analysis and strategy at Allergan plc, where she oversaw financial and business strategy through the company's acquisition by Abbvie in May 2020. Prior to joining Allergan, Ms. Karydas spent over 17 years in asset management and investment banking focused on the bio-pharmaceutical sector. She served as a senior healthcare analyst at J.P. Morgan Asset Management and a portfolio manager and senior healthcare analyst at The Boston Company Asset Management and was a vice president at Goldman Sachs Asset Management and a member of Goldman Sachs' healthcare investment banking team. She began her career as a project chemical engineer at Merck & Co. and earned a B.S. and M.S. in chemical engineering from the Massachusetts Institute of Technology and an M.B.A. from Harvard Business School.

Mr. Goater is chief executive officer at Surface Oncology, an immuno-oncology company developing next-generation antibody therapies. Previously he was chief financial officer of Voyager Therapeutics, helping to guide the company through an initial public offering and establishment of a strategic partnership with Sanofi Genzyme. For almost ten years he was an investment banker, most recently at Evercore Partners where he was an advisor on more than $100 billion in strategic transactions in the biopharma industry. He began his career as a research scientist and earned master's degrees in microbiology/immunology, pathology and business administration from the University of Rochester.

"I am especially excited to be joining the LogicBio board of directors as the Company plans for a range of promising product development milestones and business opportunities based on the potential of the platform," said Ms. Karydas. "I look forward to working with the team to expand the Company's progress and target new opportunities in the rapidly emerging gene editing space."

"In recent years, LogicBio has made significant progress both in advancing its pipeline and in positioning the Company for many promising opportunities in research and business development," said Mr. Goater, adding, "I look forward to joining with the other members of the board in helping the Company achieve its mission of bringing innovative therapies to patients with rare diseases around the world."

"As we welcome Daphne and Jeff to our board, we also are very grateful to Erez Chimovits and Daniel O'Connell, who are stepping down from our board, for their service during several formative and active years for our Company," Mr.Chereau added.

About LogicBio Therapeutics

LogicBio Therapeuticsis dedicated to extending the reach of genetic medicine with pioneering platforms. LogicBio's proprietary genome editing technology platform, GeneRide, enables the site-specific integration of a therapeutic transgene without nucleases or exogenous promoters by harnessing the native process of homologous recombination. LogicBio has received FDA clearance for the first-in-human clinical trial of LB-001, a wholly owned genome editing program leveraging GeneRide for the treatment of methylmalonic acidemia. Patient enrollment in the phase 1/2 SUNRISE clinical trial is expected to begin in early 2021. In addition, LogicBio has a collaboration with Takeda to research and develop LB-301, an investigational therapy leveraging GeneRide for the treatment of the rare pediatric disease Crigler-Najjar syndrome.

LogicBio is also developing a Next Generation Capsid platform for use in gene editing and gene therapies. Data presented have shown that the capsids deliver highly efficient functional transduction of human hepatocytes with improved manufacturability with low levels of pre-existing neutralizing antibodies in human samples. Top-tier capsid candidates from this effort have demonstrated significant improvements over benchmark AAVs currently in clinical development. LogicBio is developing these highly potent vectors for internal development candidates and potentially for business development collaborations.

Forward Looking Statements

This press release contains "forward-looking" statements within the meaning of the federal securities laws. These are not statements of historical facts and are based on management's beliefs and assumptions and on information currently available. They are subject to risks and uncertainties that could cause the actual results and the implementation of the Company's plans to vary materially, including the risks associated with the initiation, cost, timing, progress and results of the Company's current and future research and development activities and preclinical studies and potential future clinical trials. These risks are discussed in the Company's filings with theU.S. Securities and Exchange Commission(SEC), including, without limitation, the Company's Annual Report on Form 10-K filed onMarch 16, 2020, the Company's Quarterly Report on Form 10-Q filed on May 11, 2020, and the Company's subsequent filings with theSEC. Except as required by law, the Company assumes no obligation to update these forward-looking statements publicly, even if new information becomes available in the future.

Media contact:Jenna UrbanBerry & Company Public Relationsjurban@berrypr.com212 253 8881

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SOURCE LogicBio Therapeutics, Inc.

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LogicBio Therapeutics names Daphne Karydas and Jeff Goater to Board of Directors - BioSpace

rBIO Achieves Crucial Milestone on Mission to Lower the Cost of Insulin by 30% – BioSpace

Biotech startup has developed a new genetic coding process to synthesize proteins and peptide hormones; rBIO's platform for synthetic insulin achieves success as the team looks to production scale-up and a range of other prescription drugs to target

SAN FRANCISCO, Dec. 17, 2020 /PRNewswire/ -- rBIO, an early-stage synthetic biology company focused on reducing the cost of prescription drugs, has announced its first in-lab milestone: synthetic production of human insulin. With its genetic coding platform and process now proven, the company is now poised to upscale production of insulin and to identify other prescription drugs that can be manufactured using rBIO's method for synthetically 'coding' microorganisms.

rBIO's approach applies recent breakthroughs in genetics and recombinant DNA science to design new strains of synthetic life capable of expressing a wide variety of peptide hormones.

"We targeted insulin for our initial model because it checks two boxes: first, it's a specialty drug that is priced too high for many people who depend on it, and second its supply chain is vulnerable," said Cameron Owen, founder and CEO of rBIO. "Our goal is to re-shore insulin manufacturing to the USA and make this crucial hormone available at a lower cost for the millions of Americans suffering from diabetes."

With lab-scale production of human insulin achieved, the next step is to increase insulin yields prior to seeking FDA approval. Looking ahead, rBIO has developed a shortlist of eight drugs that can be synthesized with this unique coding approach. "Our results with insulin clearly demonstrate that our technology works, so we're looking to apply this approach for epinephrine and erythropoietin, among others," added Owen.

"A wide array of biological products can be synthesized with this approach," said Dr. Debanjan Dhar, professor of medicine at University of California, San Diego. "Single-celled organisms like yeast, bacteria, and algae can be exploited to drive the next manufacturing boom of biological products needed to meet patient demand for crucial drugs."

Pharmaceuticals are a major concern for national security, an issue that has received heightened prominence during the current COVID-19 pandemic. According to the FDA, 1,079 facilities worldwide produce the 370 drugs marketed in the US that are on the World Health Organization's Essential Medicines List. However, just 21 percent of those facilities are based in the United States.

About rBIOrBIO is a biotech startup focused on applying recombinant DNA science to reduce the cost of prescription drugs. The company was formed by a team from Johns Hopkins Carey Business School and a team of scientists whose backgrounds include genetics, bioengineering, and bioinformatics. Based in San Francisco, rBIO is privately funded. For more information, visit https://www.rbio.online/.

Contact: tim@zingpr.com

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SOURCE rBIO, Co.

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rBIO Achieves Crucial Milestone on Mission to Lower the Cost of Insulin by 30% - BioSpace

Report: More than 1,300 Medicines and Vaccines in Development to Help Fight Cancer – PRNewswire

WASHINGTON, Dec. 15, 2020 /PRNewswire/ --Over the last 30 years, significant progress has been made in the fight against cancer. Researchers have expanded their understanding of how cancer develops and how to target medicines for specific cancer types. Since peaking in 1991, the death rate associated with cancer declined by 29%, which translates to 2.9 million fewer cancer deaths. The most recent data shows that between 2016 and 2017 alone, cancer death rates declined by 2.2%, the largest single-year drop ever recorded. Despite the challenges imposed by the COVID-19 pandemic, this momentum continues with biopharmaceutical companies focusing on research and development of innovative cancer therapies.

Still, cancer remains the second leading cause of death in the United States, accounting for 21% of all deaths. It is estimated that new cancer cases reached 1.8 million in 2020, increasing demand for earlier screening and diagnosis, as well as new treatments to address substantial unmet medical needs so patients can continue to live long and healthy lives.

To continue the progress and deliver hope to those battling cancer, biopharmaceutical research companies are working to develop more effective and better tolerated treatments.

A new report today from PhRMA finds that more than 1,300 medicines and vaccines for various cancers are currently in development, either in clinical trials or awaiting review by the U.S. Food and Drug Administration.

New medicines have played a key role in cancer survival gains, much of which are driven by advances in molecular and genomic research that have revealed the unique complexities of cancer and changed our understanding of the disease. Examples of the science behind potential new cancer treatments include:

The more than 1,300 medicines and vaccines in development represent an increased recognition among researchers that no two cancers are alike, which has led to further adoption of personalized medicine and the creation of treatments to target cancers specific to a single person. As researchers continue to explore life-saving methods and technologies to fight cancer, it is important we foster an innovation ecosystem that encourages ongoing research and development in this space.

To read the new report on medicines and vaccines in clinical testing for various cancers, click here.

Learn more about cancer at PhRMA.org/Cancer

SOURCE Pharmaceutical Research and Manufacturers of America (PhRMA)

http://phrma.org

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San Diego’s Locanabio raises $100 million for treatments aimed at degenerative diseases – The San Diego Union-Tribune

Locanabio, a San Diego gene therapy company focused on treatments for severe neurodegenerative diseases such as Huntingtons and Lou Gehrigs disease, has raised $100 million in a second round of venture capital funding.

The Torrey Pines Mesa company will use the money for further pre-clinical and clinical development of its proprietary RNA-targeting system to fight degenerative diseases including myotonic dystrophy type 1 and retinal disease, along with Huntingtons and genetic ALS.

Locanabios approach is to combine two methods for treating diseases gene therapy and RNA modification. The platform consists of several RNA-targeting systems that are combined with gene therapy delivery to modify dysfunctional RNA.

The capabilities of the platform could allow Locanabio to develop treatments for a wide range of genetic diseases beyond those on its current roadmap.

This financing positions us to accelerate our efforts to advance multiple promising programs into (new drug) studies in 2021 and to further develop our novel RNA-targeting platform, which has the potential to be a major new advance in medicine that can bring hope to patients with many devastating genetic diseases, said Chief Executive Jim Burns in a statement.

Burns joined Locanabio in December 2019 from Casebia, where he served as the chief executive and led the team in developing CRISPR-based therapeutics to treat blood disorders, blindness and heart disease. Before that, he spent the bulk of his career at Sanofi-Genzyme, where he held several leadership roles.

This latest financing was led by Vida Ventures. Other new investors participating include RA Capital Management, Invus, Acuta Capital Partners and an investment fund associated with SVB Leerink.

Prior investors ARCH Venture Partners, Temasek, Lightstone Ventures, UCB Ventures and Google Ventures also participated. Lonanabio previously raised $55 million in May 2019.

As part of the funding round, Rajul Jain, a medical doctor and director of Vida Ventures, will join Locanabios board of directors.

The unique approach in RNA targeting using gene therapy to deliver RNA binding proteins developed by Locanabio represents the next frontier of genetic medicine with the ability to target the root cause of a range of genetic diseases, said Jain in a statement. They have built a strong management team to execute this bold vision, and we are proud to support them.

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San Diego's Locanabio raises $100 million for treatments aimed at degenerative diseases - The San Diego Union-Tribune

Worldwide SNP Genotyping Industry to 2025 – Pharmacogenomics Led the End-user Segment of the SNP Genotyping Market – ResearchAndMarkets.com – Business…

DUBLIN--(BUSINESS WIRE)--The "SNP Genotyping Market - Growth, Trends, and Forecasts (2020 - 2025)" report has been added to ResearchAndMarkets.com's offering.

The global SNP genotyping market is expected to register a CAGR of 21% during the forecast period.

The analysis of SNPs is widely utilized in different disciplines of genetics and related studies, commonly associated with studying genetic determinants of many complex diseases. SNP technologies are extensively utilized for detection and are beneficial in the etiology of several human diseases, such as cancer, cardiovascular, Alzheimer's, and asthma, among others.

Companies Mentioned

Key Market Trends

Pharmacogenomics Led the End-user Segment of the SNP Genotyping Market

Under end users, pharmacogenomics is the leading segment. The large share of pharmacogenomics is primarily due to the increasing pipeline for personalized medicine and novel drug delivery systems, which are extensively exploiting SNP in genetic materials for drug development applications. According to the Journal of Personalized Medicine, up to June 2019, there were around 132 pharmacogenimic guidelines for the available drugs and also, pharmacogenomic information is added in around 309 medication label. Hence, the growing demand for pharmacogenomics is expected to propel the SNP Genotyping market in this segment.

North America had Largest Share in the Global SNP Market, while Asia-Pacific is the Fastest-growing Region

North America is the dominating region in the SNP genotyping market, due to rising commercial research in personalized medicines and animal breeding, among others. In addition, Asia-Pacific is the fastest-growing market, due to the rising demand for SNP genotyping in emerging economies like China and India, across different fields, which is largely propelling the market's growth.

Key Topics Covered:

1 INTRODUCTION

1.1 Study Deliverables

1.2 Study Assumptions

1.3 Scope of the Study

2 RESEARCH METHODOLOGY

3 EXECUTIVE SUMMARY

4 MARKET DYNAMICS

4.1 Market Overview

4.2 Market Drivers

4.2.1 Miniaturisation of Equipment and Instruments

4.2.2 Increased Multiplexing Capacity Leading to Increased Application

4.3 Market Restraints

4.3.1 Lack of Standardisation in SNP Processes

4.3.2 Privacy Concerns Pose a Threat to Broad Technology Adoption

4.4 Porter's Five Forces Analysis

5 MARKET SEGMENTATION

5.1 Technology

5.1.1 TaqMan SNP Genotyping

5.1.2 Massarray SNP Genotyping

5.1.3 SNP GeneChip Arrays

5.1.4 Other Technologies

5.2 End User

5.2.1 Pharmacogenomics

5.2.2 Diagnostic Field

5.3 Geography

5.3.1 North America

5.3.1.1 United States

5.3.1.2 Canada

5.3.1.3 Mexico

5.3.2 Europe

5.3.2.1 Germany

5.3.2.2 United Kingdom

5.3.2.3 France

5.3.2.4 Italy

5.3.2.5 Spain

5.3.2.6 Rest of Europe

5.3.3 Asia-Pacific

5.3.3.1 China

5.3.3.2 Japan

5.3.3.3 India

5.3.3.4 Australia

5.3.3.5 South Korea

5.3.3.6 Rest of Asia-Pacific

5.3.4 Middle-East & Africa

5.3.4.1 GCC

5.3.4.2 South Africa

5.3.4.3 Rest of Middle-East & Africa

5.3.5 South America

5.3.5.1 Brazil

5.3.5.2 Argentina

5.3.5.3 Rest of South America

6 COMPETITIVE LANDSCAPE

6.1 Company Profiles

6.1.1 Agilent Technologies Inc.

6.1.2 Bio-Rad Laboratories Inc.

6.1.3 Danaher Corporation

6.1.4 Douglas Scientific LLC

6.1.5 Illumina Inc.

6.1.6 Life Technologies Corp.

6.1.7 Luminex Corp.

6.1.8 Promega Corporation

6.1.9 Thermo Fischer Scientific Inc.

7 MARKET OPPORTUNITIES AND FUTURE TRENDS

For more information about this report visit https://www.researchandmarkets.com/r/s2295f

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Worldwide SNP Genotyping Industry to 2025 - Pharmacogenomics Led the End-user Segment of the SNP Genotyping Market - ResearchAndMarkets.com - Business...

Potential Weakness in SARS-CoV-2 Discovered Single Protein Needed for COVID-19 Virus to Reproduce and Spread – SciTechDaily

A single protein that appears necessary for the COVID-19 virus to reproduce and spread to other cells is a potential weakness that could be targeted by future therapies.

The molecule, known as transmembrane protein 41 B (TMEM41B), is believed to help shape the fatty outer membrane that protects the virus genetic material while it replicates inside an infected cell and before it infects another.

The latest finding comes from a pair of studies led by researchers at NYU Grossman School of Medicine and NYU Langone Healths Perlmutter Cancer Center, and colleagues at Rockefeller University and elsewhere.

Published in the journal Cell online December 8, 2020, the studies revealed that TMEM41B was essential for SARS-CoV-2 to replicate. In a series of experiments, researchers compared how the COVID-19 virus reproduces in infected cells to the same processes in two dozen deadly flaviviruses, including those responsible for yellow fever, West Nile, and Zika disease. They also compared how it reproduces in infected cells to three other seasonal coronaviruses known to cause the common cold.

Together, our studies represent the first evidence of transmembrane protein 41 B as a critical factor for infection by flaviviruses and, remarkably, for coronaviruses, such as SARS-CoV-2, as well, says the studies co-senior investigator John T. Poirier, PhD.

An important first step in confronting a new contagion like COVID-19 is to map the molecular landscape to see what possible targets you have to fight it, says Poirier, an assistant professor of medicine at NYU Langone Health. Comparing a newly discovered virus to other known viruses can reveal shared liabilities, which we hope serve as a catalog of potential vulnerabilities for future outbreaks.

While inhibiting transmembrane protein 41 B is currently a top contender for future therapies to stop coronavirus infection, our results identified over a hundred other proteins that could also be investigated as potential drug targets, says Poirier, who also serves as director of the Preclinical Therapeutics Program at NYU Langone and Perlmutter Cancer Center.

For the studies, researchers used the gene-editing tool CRISPR to inactivate each of more than 19,000 genes in human cells infected with each virus, including SARS-CoV-2. They then compared the molecular effects of each shutdown on the virus ability to replicate.

In addition to TMEM41B, some 127 other molecular features were found to be shared among SARS-CoV-2 and other coronaviruses. These included common biological reactions, or pathways, involved in cell growth, cell-to-cell communication, and means by which cells bind to other cells. However, researchers say, TMEM41B was the only molecular feature that stood out among both families of viruses studied.

Interestingly, Poirier notes, mutations, or alterations, in TMEM41B are known to be common in one in five East Asians, but not in Europeans or Africans. He cautions, however, that it is too early to tell if this explains the relatively disproportionate severity of COVID-19 illness among some populations in the United States and elsewhere. Another study finding was that cells with these mutations were more than 50 percent less susceptible to flavivirus infection than those with no gene mutation.

Poirier says more research is needed to determine if TMEM41B mutations directly confer protection against COVID-19 and if East Asians with the mutation are less vulnerable to the disease.

The research team next plans to map out TMEM41Bs precise role in SARS-CoV-2 replication so they can start testing treatment candidates that may block it. The team also has plans to study the other common pathways for similar potential drug targets.

Poirier adds that the research teams success in using CRISPR to map the molecular weaknesses in SARS-CoV-2 serves as a model for scientists worldwide for confronting future viral outbreaks.

References:

TMEM41B IS A PAN-FLAVIVIRUS HOST FACTOR by H.-Heinrich Hoffmann, William M. Schneider, Kathryn Rozen-Gagnon, Linde A. Miles, Felix Schuster, Brandon Razooky, Eliana Jacobson, Xianfang Wu, Soon Yi, Charles M. Rudin, Margaret R. MacDonald, Laura K. McMullan, John T. Poirier and Charles M. Rice, 8 December 2020, Cell.DOI: 10.1016/j.cell.2020.12.005

Genome-scale identification of SARS-CoV-2 and pan-coronavirus host factor networks by William M. Schneider, Joseph M. Luna, H.-Heinrich Hoffmann, Francisco J. Sanchez-Rivera, Andrew A. Leal, Alison W. Ashbrook, Jeremie Le Pen, Inna Ricardo-Lax, Eleftherios Michailidis, Avery Peace, Ansgar F. Stenzel, Scott W. Lowe, Margaret R. MacDonald, Charles M. Rice and John T. Poirier, 9 December 2020, Cell.DOI: 10.1016/j.cell.2020.12.006

Study funding was provided by National Institutes of Health grants R01 AI091707, U19 AI111825, R01 CA190261, R01 CA213448, U01 CA2133359, R01 AI143295, R01 AI150275, R01 AI124690, R01 AI116943, P01 AI138938, P30 CA008748, P30 CA016087, R03 AI141855, R21 AI142010, T32 CA160001. Additional funding support was provided by the G. Harold and Leila Y. Mathers Charitable Foundation, the BAWD Foundation, and Fast Grants.

Besides Poirier, another NYU Langone researcher involved in these studies is Andrew Leal. Other collaborators included study co-senior investigator Charles Rice and study co-investigators William Schneider, Joseph Luna, Heinrich Hoffman, Alison Ashbrook, Jeremie Le Pen, Inna Ricardo-Lax, Eleftherios Michailidis, Avery Peace, Ansgar Stenzel, Margaret MacDonald, Kathryn Rozen-Gagnon, Felix Schuster, Brandon Razooky, Eliana Jacobson, Xianfang Wu, and Soon Yi, at Rockefeller University in New York City; Francisco-Sanchez-Rivera, Scott Lowe, Linda Miles, and Charles Rudin, at Memorial Sloan Kettering Cancer Center in New York City; and Laura McMullen, at the U.S. Centers for Disease Control and Prevention in Atlanta.

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Potential Weakness in SARS-CoV-2 Discovered Single Protein Needed for COVID-19 Virus to Reproduce and Spread - SciTechDaily

Landing of $75M expansion of Texas-based Taysha adds to Triangle’s growing gene therapy hub – WRAL Tech Wire

RESEARCH TRIANGLE PARK Dallas-basedTaysha Gene Therapiesannounced plans today to invest $75 million in a gene therapy manufacturing facility in Durham that will employ more than 200 people.

Taysha is joining the fast-growing community of cutting-edge gene- and cell-therapy companies setting up shop in the Research Triangle, where decades of investment and workforce training have created a magnet for the discovery and manufacture of sciences game-changers in fighting some of humankinds most fearsome maladies.

Taysha logo

The company is developing gene therapies that use benign adeno-associated viruses (AAV) as vectors, or carriers, to transport genetic corrections to otherwise defective areas of the body. Taysha is initially targeting genetic diseases of the central nervous system, such as CLN1 disease, also called infantile Batten disease, which causes developmental delays in children, and Rett syndrome, a rare genetic mutation affecting brain development in young girls.

Taysha has a partnership withthe University of Texas Southwestern Medical Centernear its Dallas headquarters that accommodates some initial production of its gene therapies. And the company announced a partnership last month to add manufacturing capacity at therapeutics developer CatalentsMaryland-based gene therapy facilities. But the RTP investment is aimed at large-scale manufacturing of Tayshas product line as it evolves.

There are reasons the Research Triangle has become an epicenter for AAV technology, used by most gene therapy companies today. It was developed byJude Samulski, Ph.D.,of Chapel Hill, who holds the first U.S. patent for inserting non-AAV genes into AAV. Samulski is the lead inventor on more than 300 patents in the field of AAV vectors and gene therapy.

Jobs paying nearly $120,000 coming to Durham County in biotech expansion

Samulski was recruited to the University of North Carolina School of Medicine in 1993 with nearly $250,000 in grant funding from the North Carolina Biotechnology Center. He led UNCs Gene Therapy Center for several years and in 2001 co-foundedAsklepios BioPharmaceutical (AskBio)in RTP, which Bayer recently bought for $4 billion.

AskBio itself spun out four gene therapy startups in recent years:NanoCor Therapeutics, Chatham Therapeutics, Bamboo Therapeutics andActus Therapeutics. Chatham was acquired by Takeda, and Bamboo wasacquired by Pfizer.

That base of gene therapy science, coupled with North Carolinas storied life sciences workforce development system and positive business climate, have drawn billions of dollars of investment from gene and cell therapy companies to the Triangle in recent years.

Taysha has had numerous connections with North Carolinas gene therapy community. One of the companys founders, early chief scientific officer Steven Gray,worked in Samulskis labat UNC. Also, several other members of the management team came from AveXis. Swiss drugmakerNovartisbought AveXis for $8.7 billion in 2018 and renamed it Novartis Gene Therapies.

Taysha is all about helping patients, and this investment underlines North Carolinas commitment to help the company achieve that vision, said Bill Bullock, senior vice president of economic development and statewide operations for the North Carolina Biotechnology Center, a partner in Tayshas recruitment to the state.

It also reinforces North Carolinas commitment to providing best-in-class talent to attract these types of investments, and the states position as a global leader in gene therapy manufacturing.

Taysha is a publicly held company trading on the Nasdaq exchange with the symbol TSHA. The company says Taysha is a word in the Caddo Native American language meaning ally or friend.

(C) N.C. Biotech Center

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Landing of $75M expansion of Texas-based Taysha adds to Triangle's growing gene therapy hub - WRAL Tech Wire

Track the Vax: What Do We Need to Know About the New Vaccines? – Everyday Health

The following are some highlights from the edited transcript.

Richard Kuhn: Traditionally, for viruses, we've either taken a virus and inactivated it, and used that as a vaccine, or we've taken a virus and made it less infectious that is, it's attentuated and made that a vaccine; or we've expressed proteins that are on the surface of a virus and used those proteins as stimulants for your immune system. These would be purified proteins that would be injected. The protein self-assembles into something that resembles the virus, but it doesn't have any of the components that allow the virus to replicate. So those are the standard, traditional vaccines.

The technology that Moderna and Pfizer are pushing right now is one in which you use the coding sequence, the information that codes for the viral protein that you're interested in. In the case of COVID-19, we're interested in a surface protein that we call the spike glycoprotein spike for short. This technology basically uses the genetic information that will make this spike protein when you put it into a cell. And that information is encoded in what we call messenger RNA mRNA. That's the vaccine, and it's packaged in a lipid nanoparticle for delivery purposes.

Serena Marshall: That's a ton of information, and I want to unpack it a little. Let's talk about the vaccines of days past, [in which we get] infected with a weakened version, an attenuated version, as you said. A lot of people think, Okay, so when I get this new COVID vaccine, am I going to be getting COVID? That's not the case here.

Richard Kuhn: That's absolutely correct. First of all, there's no infectious material being injected into an individual; you're only making a single protein, but it's the critical protein that your immune system will respond to.

What will happen is, that lipid nanoparticle will be able to enter cells in your body after you've been vaccinated. And that RNA, the messenger RNA, will make a protein, just like all the proteins your cells normally make. The only difference being that once it gets made, other cells are going to recognize it as foreign. And they're going to mount a response against it.

Serena Marshall: Why is it that this virus is able to have that protein and able to have that immune response?

Richard Kuhn: Well, this technology has been around for a few years. In fact, Moderna developed the technology initially against Zika virus. In the case of Zika virus, there was this massive expansion and infection of people in South and Central America, and everybody was very concerned, and then the virus died off. So Moderna had this technology but was never able to go to clinical trials because there was no Zika virus prevalent in the population.

Serena Marshall: So when we hear that this is a brand-new technology that's never been approved before, that's all true. But it's not new research; it actually, as you said, goes back to Zika. But also, [for] decades before they've been looking into this.

Richard Kuhn: The COVID-19 pandemic is the perfect situation for producing a messenger RNA vaccine, because it's very easy to produce in a large scale. Because it's synthetic, you don't have to grow anything in cells, which has been the traditional way that you produce vaccines. So it's very easy, it's very rapid. As soon as you have the genetic information of a virus or a pathogen, you can begin to develop a messenger RNA vaccine against it, which trims off years of very difficult work that we've previously had to do with the older vaccines.

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Track the Vax: What Do We Need to Know About the New Vaccines? - Everyday Health

Medical history from the year you were born – Quad City Times

Medicine is ever-evolving on a daily basis. Keeping track of the changes can be an almost-full-time job.Stacker looked at a number of medical journals and media sources to discover the biggest breakthroughs the year you were born, from 1921 to the current day.

From diseases that have been around for decades, such as diabetes and the flu, to cutting-edge tools like artificial intelligence and 3D printing, explore how medical and scientific professionals continually conduct research and clinical trials to improve the lives of patients. Sometimes advances arent immediately adopted, as with the Pap smearthat wasnt integrated into womens health care for 16 years after it was invented. But other times the path from laboratory to everyday use is much more abbreviated, like with insulin, which was used to treat diabetes only a year after it was discovered.

Another recurring theme in medical history is the repurposing of medicines that have worked for one disease in the past, to see how theyll work with another. A number of drugs and vaccines are being re-explored to manage COVID-19. Not all the heroes of medical research come from a traditional backgroundone was an electric engineer who worked for a major record label. Some were recognized with the highest honors, but others still have little visibility decades after their death. Funding for the research behind the breakthroughs is always a considerationsometimes it comes from foundations and government entities, but other times via donations from individuals and enterprises.

The dark side of medical history shown here includes unethical behavior by researchers in the past, which explains why some in the Black community arent exactly early adopters when it comes to clinical trials and new treatment options.

Advances noted here focus not only on the body, but also the mind. Explore this slideshow to see all the ways that health care has changed over the past century.

You may also like: Countries with the best life expectancy

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Medical history from the year you were born - Quad City Times

Sarepta Therapeutics to Share Clinical Update for SRP-5051, its Investigational PPMO for the Treatment of Duchenne Muscular Dystrophy – GlobeNewswire

CAMBRIDGE, Mass., Dec. 04, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced that on Monday, Dec. 7, 2020 at 8:30 am Eastern Time (ET), it will host a webcast and conference call to present interim data from the MOMENTUM study, a multiple-ascending dose clinical trial of SRP-5051 for the treatment of Duchenne muscular dystrophy. SRP-5051 is the first investigational treatment using Sareptas next-generation PPMO platform, which is designed around a proprietary cell-penetrating peptide conjugated to Sareptas phosphorodiamidate morpholino oligomer (PMO) backbone with the goal of increasing drug concentration in muscle tissue.

The presentation will be webcast live under the investor relations section of Sarepta's website at https://investorrelations.sarepta.com/events-presentations and slides will be archived there following the call for one year. Please connect to Sarepta's website several minutes prior to the start of the broadcast to ensure adequate time for any software download that may be necessary. The conference call may be accessed by dialing (844) 534-7313 for domestic callers and (574) 990-1451 for international callers. The passcode for the call is 6382259. Please specify to the operator that you would like to join the "Sarepta-hosted Clinical Update for MOMENTUM call."

AboutSarepta Therapeutics At Sarepta, we are leading a revolution in precision genetic medicine and every day is an opportunity to change the lives of people living with rare disease. The Company has built an impressive position in Duchenne muscular dystrophy (DMD) and in gene therapies for limb-girdle muscular dystrophies (LGMDs), mucopolysaccharidosis type IIIA, Charcot-Marie-Tooth (CMT), and other CNS-related disorders, with more than 40 programs in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visitwww.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Internet Posting of Information

We routinely post information that may be important to investors in the 'Investors' section of our website atwww.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc. Investors: Ian Estepan, 617-274-4052, iestepan@sarepta.com

Media: Tracy Sorrentino, 617-301-8566, tsorrentino@sarepta.com

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Sarepta Therapeutics to Share Clinical Update for SRP-5051, its Investigational PPMO for the Treatment of Duchenne Muscular Dystrophy - GlobeNewswire

December: Baby birth weight research | News and features – University of Bristol

Genetics of mother and baby contribute to most cases where babies are born very large or very small, according to new research.

Genetics of mother and baby contribute to most cases where babies are born very large or very small, according to new research.

A large scale study, led by the University of Exeter and Cardiff University, has found the strongest evidence to date that genetics play a major role in most cases when babies born at full term are in the top or bottom 10 per cent of the weight spectrum.

However, in the three per cent of babies with the smallest birth weights, genetics seemed to play a less important role. This indicated that other factors may be contributing to the babies small size. The research looked at 190 common genetic variations that are known to affect birth weight, yet it is possible that rare genetic changes in the baby reduce growth in the smallest three per cent. Other important factors could include the health of the mother or fetus or of the placenta, which transfers nutrients and oxygen to the baby.

The study was a collaboration also involving the University of Bristols Children of the 90s, Imperial College London, and the University of Oulu in Finland. The research was supported by Wellcome Trust and the H2020 program of the European Commission.

The weight of babies at birth is important, as those born at the extreme ends are at higher risk of complications. Smaller babies are more likely to be admitted to neonatal units and at higher risk of death, while larger babies are at higher risk of complications during birth.

To examine the extent to which birth weight was linked to the genetics of mothers and babies, the team created a genetic score for higher birth weight. Published today in PLOS Genetics, the study tested whether the genetic score was higher or lower in babies who were born very large or very small in a sample of nearly 12,000 babies and more than 5,000 mothers of European ancestry. The mothers and babies were from Children of the 90s, a health study based at the University of Bristol, the Exeter Family Study of Childhood Health and the Northern Finland Birth Cohorts 1966 and 1986.

Dr Robin Beaumont, of the University of Exeter Medical School, was lead author of the study. He said: This research casts new light on why some babies are born very large or small. This knowledge will help both parents and clinicians understand where they need to focus medical attention. Genetics played a lesser role in the three per cent of babies with the lowest weight, suggesting that other factors such as the health of the placenta, may have influenced their weight.

Co-lead author and clinician, Professor Sailesh Kotecha, of Cardiff University, added: Its important to identify reasons why babies are born with low birth weight as they are at risk of increased health problems in later life including diabetes and high blood pressure. Our work shows that genetics are a key part of the reason why some babies are born small, and raises the possibility that genetics could be used alongside maternal and placental factors to identify those most likely to have fallen short of their growth potential.

Professor Rachel Freathy, of the University of Exeter, who oversaw of the study said: Our study gives the greatest insight to date into how common genetic variations between people influence the extremes of birth weight. We now need to understand better whether the genetics or environmental factors are more important in the later life health risks.

The paper is entitled Common maternal and fetal genetic variants show expected polygenic effects on risk of small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies, and is published in PLOS Genetics.

The paper is entitled Common maternal and fetal genetic variants show expected polygenic effects on risk of small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies, and is published inPLOS Genetics.

About the University of Exeter Medical School

The University of Exeter Medical School is part of the University of Exeters College of Medicine and Health. Our mission is to improve the health of the South West and beyond, through the development of high quality graduates and world-leading research that has international impact.

As part of a Russell Group university, we combine this world-class research with very high levels of student satisfaction. Exeter has over 19,000 students and is ranked 12th in The Times and Sunday Times Good University Guide 2020.

The University of Exeter Medical Schools Medicine course is in the top 10 in the Complete University Guide 2020.

The Colleges Medical Imaging programme is ranked in the top 5 in the Guardian Guide 2020 and the Complete University Guide 2020.

The University of Exeter entered the world top 20 for Biomedical and Health Sciences in the CWTS Leiden Ranking 2019, based on the percentage of publications ranked in the top 10 per cent most cited.

https://medicine.exeter.ac.uk/

Cardiff University is recognised in independent government assessments as one of Britains leading teaching and research universities and is a member of the Russell Group of the UKs most research intensive universities. The 2014 Research Excellence Framework ranked the University 5th in the UK for research excellence. Among its academic staff are two Nobel Laureates, including the winner of the 2007 Nobel Prize for Medicine, Professor Sir Martin Evans. Founded by Royal Charter in 1883, today the University combines impressive modern facilities and a dynamic approach to teaching and research. The Universitys breadth of expertise encompasses: the College of Arts, Humanities and Social Sciences; the College of Biomedical and Life Sciences; and the College of Physical Sciences and Engineering, along with a longstanding commitment to lifelong learning. Cardiffs flagship Research Institutes are offering radical new approaches to pressing global problems. More atwww.cardiff.ac.uk

About Children of the 90s

Based at the University of Bristol, Children of the 90s, also known as the Avon Longitudinal Study of Parents and Children (ALSPAC), is a long-term health-research project that enrolled more than 14,000 pregnant women in 1991 and 1992. It has been following the health and development of the parents and their children in detail ever since and is currently recruiting the children and the siblings of the original children into the study. It receives core funding from the Medical Research Council, the Wellcome Trust and the University of Bristol. Find out more at http://www.childrenofthe90s.ac.uk

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December: Baby birth weight research | News and features - University of Bristol

Biochip Market | Increased Popularity of Personalized Medicine to Boost the Market Growth | Technavio – Business Wire

LONDON--(BUSINESS WIRE)--The global biochip market size is poised to grow by USD 19.71 billion during 2020-2024, progressing at a CAGR of 22% throughout the forecast period, according to the latest report by Technavio. The report offers an up-to-date analysis regarding the current market scenario, latest trends and drivers, and the overall market environment. The report also provides the market impact and new opportunities created due to the COVID-19 pandemic. Download a Free Sample of REPORT with COVID-19 Crisis and Recovery Analysis.

Personalized medicines growing popularity and demand is expected to drive the growth of the Biochip market. The medicines are personalized as per the patients needs which suits the individual characteristics of the person is a multi-faceted approach. This improves the ability to diagnose and effectively treat the disease as this technique facilitates early diagnosis. These biochips play an important part in the development of these medicines, as it improves the ability to diagnose and effectively treat the disease. It is also expected that during the forecast period the growing incidences of genetic and terminal diseases will influence the demand for personalized medicine for targeted drug development. This will increase the demand for biochips which will result in the growth of this industry.

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Rising Use of Biochips in Safety Detection of Agriculture Products will be a Key Market Trend

The rising use of biochip technology in the agriculture industry is turning out to be one of the major trends in the biochip industry. Biochip helps in the detection of pathogenic microorganisms, biological toxins, pesticide residues, and antibiotics. Microchips help in providing early warning to agricultural products' monitoring with a rapid response system and, thus, enhance the agricultural products' safety detection system. Therefore, significantly helping the agriculture industry from the loss it faces every year.

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Biochip Market 2020-2024: Key Highlights

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Executive Summary

Market Landscape

Market Sizing

Five Forces Analysis

Market Segmentation by Technology

Customer landscape

Geographic Landscape

Vendor Landscape

Vendor Analysis

Appendix

About Us

Technavio is a leading global technology research and advisory company. Their research and analysis focuses on emerging market trends and provides actionable insights to help businesses identify market opportunities and develop effective strategies to optimize their market positions. With over 500 specialized analysts, Technavios report library consists of more than 17,000 reports and counting, covering 800 technologies, spanning across 50 countries. Their client base consists of enterprises of all sizes, including more than 100 Fortune 500 companies. This growing client base relies on Technavios comprehensive coverage, extensive research, and actionable market insights to identify opportunities in existing and potential markets and assess their competitive positions within changing market scenarios.

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Biochip Market | Increased Popularity of Personalized Medicine to Boost the Market Growth | Technavio - Business Wire

NIH researchers link cases of ALS and FTD to a mutation associated with Huntington’s disease – National Institute on Aging

A study led by researchers at the National Institutes of Health has made a surprising connection between frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), two disorders of the nervous system, and the genetic mutation normally understood to cause Huntingtons disease.

This large, international project, which included a collaboration between the National Institute of Neurological Disorders and Stroke (NINDS) and the National Institute on Aging (NIA), opens a potentially new avenue for diagnosing and treating some individuals with FTD or ALS.

Several neurological disorders have been linked to repeat expansion, a type of mutation that results in abnormal repetition of certain DNA building blocks. For example, Huntingtons disease occurs when a sequence of three DNA building blocks that make up the gene for a protein called huntingtin repeats many more times than normal. These repeats can be used to predict whether someone will develop the illness and even when their symptoms are likely to appear, because the more repeats in the gene, the earlier the onset of disease.

It has been recognized for some time that repeat expansion mutations can give rise to neurological disorders, said Sonja Scholz, M.D., Ph.D., investigator, NINDS Intramural Research Program. But screening for these mutations throughout the entire genome has traditionally been cost-prohibitive and technically challenging.

Taking advantage of technology available at NIH, the researchers screened the entire genomes from large cohorts of FTD/ALS patients and compared them to those of age-matched healthy individuals. While several patients had a well-established genetic marker for FTD/ALS, a small subset surprisingly had the same huntingtin mutation normally associated with Huntingtons disease. Remarkably, these individuals did not show the classical symptoms of Huntingtons but rather those of ALS or FTD.

None of these patients symptoms would have clued their physicians into thinking that the underlying genetic cause was related to the repeat expansion we see in Huntingtons disease, said Dr. Scholz.

She continued by explaining that whole-genome sequencing is changing how neurological patients can be diagnosed. Traditionally, this has been based on which disease best fit the overall symptoms with treatment aimed at managing those symptoms as best as possible. Now, clinicians can generate genetically defined diagnoses for individual patients, and these do not always align with established symptom-based neurological conditions.

Our patients simply dont match a textbook definition of disease when it comes to which mutation produces which symptoms. Here we have patients carrying a pathogenic huntingtin mutation but who present with FTD or ALS symptoms, said Dr. Scholz.

One implication of these findings is that, if successful, these therapies could be applied to the small subset of FTD and ALS patients with that mutation as well. The researchers note that, although the number of FTD/ALS patients seen with the Huntingtons-linked mutation is small (roughly 0.12-0.14%), adding genetic screening for the mutation to the standard diagnostic procedure for patients showing symptoms of FTD or ALS should be considered.

Because gene therapy targeting this mutation is already in advanced clinical trials, our work offers real hope to the small number of FTD and ALS patients who carry this mutation, said Bryan Traynor, M.D., Ph.D., senior investigator, NIA Intramural Research Program. This type of large-scale international effort showcases the power of genomics in identifying the molecular causes of neurodegenerative diseases and paves the way for personalized medicine.

Reference: Dewan R, et al. Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis. Neuron. 2020. ePub Nov. 25. doi: 10.1016/j.neuron.2020.11.005.

About the National Institute on Aging (NIA): NIA leads the U.S. federal government effort to conduct and support research on aging and the health and well-being of older people. Learn more about age-related cognitive change and neurodegenerative diseases via NIAs Alzheimer's and related Dementias Education and Referral (ADEAR) Center website. For information about a broad range of aging topics, visit the main NIA website and stay connected.

About National Institute of Neurological Diseases and Stroke (NINDS): NINDS is the nations leading funder of research on the brain and nervous system. The mission of NINDS is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit the NIH website.

NIH...Turning Discovery Into Health

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NIH researchers link cases of ALS and FTD to a mutation associated with Huntington's disease - National Institute on Aging

Global Next Generation Sequencing Market (2020 to 2026) – Growth, Trends, Competitive Landscape, and Forecasts – GlobeNewswire

Dublin, Dec. 03, 2020 (GLOBE NEWSWIRE) -- The "Global Next Generation Sequencing Market: Growth, Trends, Competitive Landscape, and Forecasts" report has been added to ResearchAndMarkets.com's offering.

The global next-generation sequencing market is expected to grow at a CAGR of around 17.5% during 2020-2026. Next-generation sequencing is also known as high-throughput sequencing. It is the process of determining the sequence of nucleotides in a section of the DNA. It includes procedures such as sequencing by ion semiconductor sequencing, synthesis (SBS), nanopore sequencing and single-molecule real-time (SMRT) sequencing. It is a cost-effective solution that offers precise results with high accuracy and speed. This enables the analysis of millions of DNA molecules simultaneously, which facilitates research in the fields of personalized and genetic medicines, agriculture and animal research, and clinical diagnostics.

Market Drivers

Market Challenges

Report's Scope

The global next-generation sequencing market report elucidates key industry trends, industry dynamics along with the quantitative analysis of the report. The report presents a clear picture of the global next-generation sequencing market by segmenting the market based on sequencing type, product type, technology, application, end user, and region. We believe that this report will aid the professionals and industry stakeholders in making informed decision.

Key Topics Covered:

1. Preface1.1 Report Description1.1.1 Objective of the Study1.1.2 Target Audience1.1.3 USP & Key Offerings1.2 Report's Scope1.3 Research Methodology1.3.1 Phase I - Secondary Research1.3.2 Phase II - Primary Research1.3.3 Phase III - Expert Interviews1.3.4 Assumptions

2. Executive Summary

3. Global Next Generation Sequencing Market3.1 Introduction3.2 Market Drivers & Challenges

4. Global Next Generation Sequencing Market Analysis4.1 Market Portraiture4.2 Market by Sequencing Type4.3 Market by Product Type4.4 Market by Technology4.5 Market by Application 4.6 Market by End User4.7 Market by Region 4.8 Impact of COVID-19

5. Global Next Generation Sequencing Market by Sequencing Type 5.1 Market Overview5.2 Whole Genome Sequencing5.3 Targeted Resequencing5.4 Whole Exome Sequencing5.5 RNA Sequencing5.6 CHIP Sequencing5.7 De Novo Sequencing5.8 Methyl Sequencing5.9 Others

6. Global Next Generation Sequencing Market by Product Type 6.1 Market Overview6.2 Instruments6.3 Reagents and Consumables6.4 Software and Services6.5 Others

7. Global Next Generation Sequencing Market by Technology Type 7.1 Market Overview7.2 Sequencing by Synthesis7.3 Ion Semiconductor Sequencing7.4 Single-Molecule Real-Time Sequencing7.5 Nanopore Sequencing7.6 Others

8. Global Next Generation Sequencing Market by Application8.1 Market Overview8.2 Drug Discovery and Personalized Medicine8.3 Genetic Screening8.4 Diagnostics8.5 Agriculture and Animal Research8.6 Bioinformatics8.7 Others

9. Global Next Generation Sequencing Market by End User9.1 Market Overview9.2 Academic Institutes & Research Centers9.3 Hospitals & Clinics9.4 Pharmaceutical & Biotechnology Companies9.5 Others

10. Global Next Generation Sequencing Market by Region10.1 Market Overview10.2 Europe10.2.1 Germany10.2.2 United Kingdom10.2.3 France10.2.4 Italy10.2.5 Spain10.2.6 Netherlands10.2.7 Russia10.2.8 Rest of the Europe10.3 North America10.3.1 United States10.3.2 Canada10.4 Asia Pacific10.4.1 China10.4.2 Japan10.4.3 South Korea10.4.4 Australia10.4.5 India10.4.6 Indonesia10.4.7 Rest of the Asia Pacific10.5 Latin America10.5.1 Mexico10.5.2 Brazil10.5.3 Argentina10.5.4 Rest of Latin America10.6 Middle East & Africa10.6.1 Saudi Arabia10.6.2 Turkey10.6.3 United Arab Emirates10.6.4 Rest of Middle East & Africa

11. SWOT Analysis

12. Porter's Five Forces

13. Market Value Chain Analysis

14. Competitive Landscape14.1 Competitive Scenario14.2 Company Profiles14.2.1 10x Genomics14.2.2 Agilent Technologies Inc.14.2.3 Becton Dickinson and Company14.2.4 BGI Group14.2.5 Eurofins Scientific14.2.6 F. Hoffmann-La Roche AG14.2.7 Illumina Inc.14.2.8 Genewiz14.2.9 Macrogen Inc.14.2.10 Oxford Nanopore Technologies14.2.11 Pacific Biosciences14.2.12 Perkinelmer Inc.14.2.13 Thermo Fisher Scientific Inc.14.2.14 Qiagen N.V.14.2.15 Genapsys Inc.

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Global Next Generation Sequencing Market (2020 to 2026) - Growth, Trends, Competitive Landscape, and Forecasts - GlobeNewswire

Precision Medicine Market Poised to Grow at 11.5% By 20227 – GlobeNewswire

OTTAWA, Nov. 30, 2020 (GLOBE NEWSWIRE) -- The global precision medicine market value surpassed USD 59.16 billion in 2019 and expected to reach USD 141.33 billion by 2027.

Precision medicine is an emerging approach of treatment and prevention of disease that takes into account the individual variability in environment, genes, and lifestyle for each person. This approach allows researchers and doctors to predict more precisely that which treatment and prevention strategies for a particular disease will work on the specified groups of people.

Although the term "precision medicine" is currently new to the consumers, the concept has been a part of healthcare industry for many years. For instance, a person who requires a blood transfusion is not given blood from any random donor; instead, the blood type of donor is matched with the recipient prior transfusion to reduce the risk of complications. Although examples can be found in various areas of medicine, the role of precision medicine in everyday healthcare is relatively limited. Researchers are significantly working to expand this approach in many areas of healthcare and health in the coming years.

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Growth Factors

The advent of precision medicine has significantly brought a paradigm shift in the drug delivery and diagnosis of the disease. The proliferation of sequencing methodologies, particularly Next Generation Sequencing (NGS), due to the increasing cost of sequencing and development of the Human Genome Project in the field of genomics is predicted to drive the market. NGS technology provides the data related to the patients genetic makeup along with response of drugs on the patient, thereby raising the development of precision medicine for the treatment of diseases. Moreover, NGS combined with Companion Diagnostics (CDx) is analyzed to play a significant role in the advancement of personalized therapeutics and diagnostics over the forecast period. Apart from the benefits offered by the precision medicine, they are highly expensive due to the application of high-end computational methods to examine individual genes projected to hinder the market growth.

Regional Snapshots

North America dominated the global precision medicine market with revenue share of nearly 40% in 2019 and expected to grow at an escalating pace during the forecast period. Technological advancement along with the presence of major players in the region contributes significantly towards the growth of the region. However, the Asia Pacific seeks to be the most opportunistic region in the precision medicine market owing to increasing cases of cancer and other diseases along with the health awareness among people.

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Report Highlights

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Key Players & Strategies

The global precision medicine market is highly competitive owing to the presence of major market participants. These market players are highly focused towards development and innovation of personalized products to upscale their position in the market. For instance, in October 2018, Qiagen announced to launch a novel RNA-seq library preparation solution for next-generation sequencing thereby expanding its user base and portfolio significantly. Similarly, other industry participants are also working prominently for advancement and innovation in the field of precision medicine.

Some of the key players operating in the market are Biocrates Life Sciences, TepnelPharma Services, Novartis, Qiagen, Quest Diagnostics, Menarini Silicon Biosystems, NanoString Technologies, Eagle Genomics, Pfizer, Intomics, Roche, and Teva Pharmaceutical among others.

Market Segmentation

By Technology

By Application

By End-Use

By Regional Outlook

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Precedence Research is a worldwide market research and consulting organization. We give unmatched nature of offering to our customers present all around the globe across industry verticals. Precedence Research has expertise in giving deep-dive market insight along with market intelligence to our customers spread crosswise over various undertakings. We are obliged to serve our different client base present over the enterprises of medicinal services, healthcare, innovation, next-gen technologies, semi-conductors, chemicals, automotive, and aerospace & defense, among different ventures present globally.

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Precision Medicine Market Poised to Grow at 11.5% By 20227 - GlobeNewswire

Fact check: mRNA vaccines kept at very cold temperatures so that they do not break apart; COVID-19 vaccines will not genetically modify humans -…

With hundreds of thousands of views social media, posts referring to Pfizer and BioNTechs COVID-19 vaccine candidate claim that any vaccine that needs to be shipped and stored at -80 degrees isnt a vaccine but rather a transfection agent, kept alive so it can infect your cells and transfer genetic material. Alleging that the vaccine will be used for genetic manipulation of humans on a massive scale, this claim is false.

Reuters Fact Check. REUTERS

The claim originated in aNov. 15 tweet from a user known as The Disruptive Physician with the handle @DocEvenhouse(here). Facebook and Instagramsharing screenshots of the tweetcan be foundhere,hereandhere.

There arecurrently threeCOVID-19 vaccinefrontrunners: one made byAstraZeneca, one made byPfizer and its German partnerBioNTech,andone made byModerna.As reportedhereby the Washington Post,AstraZeneca says that its vaccine candidate, developed by Oxford University, is up to 90% effectivein clinical trials.Pfizer andModernahavereported vaccines that are 95%effective.

The AstraZeneca vaccine uses a modified version of a chimpanzee cold virus to deliver instructions to cells to fight the target virus (here).

Meanwhile, both the Pfizer andModernacandidates rely on new technology known as messenger RNA (mRNA)to activate the immune system against the virus(here,here).Eachusessynthetic genetic materialthat can be generated and manufactured in weeks, and produced at scale more rapidly than conventional vaccines(here).

Each candidate has different storage temperature requirements.

TheAstraZenecavaccinecan also be transported and stored at normal fridge temperatures, which proponents say would make it easier to distribute - especially in poor countries(here).

TheModernavaccineis stored at minus20 degrees Celsius (-4F), but canbe keptfor a month atnormalrefrigerator temperatures(here).

Referencedin the social media posts, the Pfizer vaccine needs to be stored at minus 70 degrees Celsius (-94 F) or below - equivalent to an Antarctic winter(here).As reportedherebySanjay Mishra, project coordinator for the "COVID-19 andCancer Consortium" at Vanderbilt University Medical Centerand published onThe Conversation, the vaccine willdegrade in five days if keptatregularrefrigeration temperatures of slightly above freezing.

The Disruptive Physicians claim that any vaccine that needs to be shipped and stored at -80 degrees isnt a vaccine is false.AsMishraexplainshere,the biggest challenge in developing an mRNA vaccine is its inherent instability, because it is more likely to break apart above freezing temperatures.

Likening the Pfizer andModernavaccinesstoragetemperaturesto freezing food to keep it from spoiling,Margaret Liu, aboard member of theInternational Society for Vaccineswhospecializes in genetic vaccines, told NPR thatlower temperatures slow down the pace of chemical reactions,like the enzymes that break down RNA(here).Sincethemanufacturers do not disclosetheirspecific formulations, itis notyetclear whyPfizer andModernasmRNA vaccinesrequiredifferentstoragetemperatures.

Business Insider explainsherethatit is possiblePfizers vaccine could be fine at temperatures above that, but scientists were in such a rush to create the vaccine that they don't know for sure.

MRNA VACCINES DO NOT CAUSE GENETIC MANIPULATION OF HUMANS

The posts claim that the Pfizer vaccine is designed forgenetic manipulation of humans on a massive scale has no basis in fact.AsMishraclarifieshere,the synthetic genetic material contained in an mRNA vaccinedoes not mean a patients DNA is changed or passed onto their offspring.Instead, themoleculeguides the protein production inside the muscle cells, which reaches peak levels for 24 to 48 hours and can last for a few more days."

The Reuters Fact Check team previouslyfact-checked falsesocial media claims thata COVID-19 vaccineinvolving the injectionof the virussgenetic codewould genetically modify humans, visiblehere.

MarkLynas, a visiting fellow at Cornell Universitys Alliance for Science group(here),debunked the idea that such a vaccine could genetically modify an organism.Lynastold Reuters that no vaccine can genetically modify human DNA.

Thats just a myth, one often spread intentionally by anti-vaccination activists to deliberately generate confusion and mistrust, he said. Genetic modification would involve the deliberate insertion of foreign DNA into the nucleus of a human cell, and vaccines simply dont do that.

Dr. Paul McCray, Professor of Pediatrics, Microbiology, and Internal Medicine at the University of Iowa(here),previously explained to Reuters via email howaCOVID-19 vaccineusing a DNA or RNA vectorwould work:

As is the case with a vaccine that uses an inactivated (dead) virus, the only modification to the host is to stimulate them to make antibodies and T cells that will prevent infection with the virus or kill any infected cells to prevent or reduce disease severity. This is what happens if you get a virus infection naturally, but the vaccine takes the risk of serious disease out of the equation.

False. Pfizers COVID-19 vaccine candidate is stored at minus 70 degrees Celsius because of the mRNA vaccines inherent instability the very cold temperature slows down the chemical reactions that break apart RNA. Though both the Pfizer and Moderna vaccines contain synthetic genetic material, they do not genetically modify humans receiving them.

This article was produced by the Reuters Fact Check team. Read more about our work to fact-check social media postshere.

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Fact check: mRNA vaccines kept at very cold temperatures so that they do not break apart; COVID-19 vaccines will not genetically modify humans -...

Stoke Therapeutics Announces Presentations Related to the Company’s Work to Advance STK-001, the First Potential New Medicine to Target the Underlying…

BEDFORD, Mass.--(BUSINESS WIRE)--Stoke Therapeutics, Inc. (Nasdaq: STOK), a biotechnology company pioneering a new way to treat the underlying cause of genetic diseases by precisely upregulating protein expression, today announced highlights from presentations being made at the American Epilepsy Society (AES) 2020 Virtual Annual Meeting December 4-8, 2020 related to the Companys work to advance STK-001, the first potential new medicine to target the underlying cause of Dravet syndrome. Dravet syndrome is a severe and progressive genetic epilepsy characterized by frequent, prolonged and refractory seizures that usually begin within the first year of life. The disease is classified as a developmental and epileptic encephalopathy due to the developmental delays and cognitive impairment associated with the disease. Highlights from the Companys presentations include:

BUTTERFLY Observational Study Baseline Analysis

Abst. 81. Observational Study to Investigate Cognition and Quality of Life in Children and Adolescents with Dravet Syndrome: Baseline Analysis of the BUTTERFLY Study

December 5, 2020 9:00 AM 10:30 AM; Track: 4. Clinical Epilepsy / 4B. Clinical Diagnosis

22 children and adolescents with Dravet syndrome were enrolled in the Companys BUTTERFLY observational study and included in a baseline analysis.

All study participants evaluated are representative of patients with Dravet syndrome. The majority of patients were able to complete commonly used cognition assessments including either the BSID-III (Bayley Scales of Infant and Toddler Development) or the WPPSI-IV (Wechsler Preschool and Primary Scale of Intelligence Fourth Edition), indicating that these measures are valid and appropriate for use in patients with Dravet syndrome. An initial analysis of data from 17/22 patients who completed one of these assessments showed substantially decreased neurocognitive abilities compared to children of the same age level despite the use of multiple anti-epileptic therapies. The assessment also demonstrated an apparent widening in overall intellectual development that increases with age. In addition, a gap in adaptive functioning was noted using the Vineland Adaptive Behavior Scales.

We have long known that Dravet syndrome is far more than seizures and the BUTTERFLY study is providing quantifiable information on cognition and quality of life that fill gaps in our understanding of this disease and its progression as children age, said Joseph Sullivan, M.D., Professor of Neurology at UCSF Benioff Children's Hospitals and Director of the UCSF Pediatric Epilepsy Center of Excellence. Initial results from the study show significantly diminished neurocognitive abilities in children with Dravet syndrome such that 10 year-olds are functioning below the level of a healthy 1 year-old even while they are being treated with available anti-epileptic medicines. The fact that the majority of patients in this study were able to complete standard assessments of neurocognition gives us confidence that we can objectively assess whether potential new disease-modifying medicines have an effect on the non-seizure comorbidities that make Dravet so devastating.

Dravet syndrome is characterized by an array of effects that go beyond seizures and include motor and speech impairment, intellectual and developmental disabilities, behavioral deficits and abnormal sleep patterns, said Barry Ticho, M.D., Ph D., Chief Medical Officer of Stoke Therapeutics. We continue to generate strong preclinical evidence supporting the potential for STK-001 to address the underlying cause of Dravet syndrome and reduce seizure frequency. Our goal is to develop a medicine that goes beyond seizure control to address many of the other comorbidities associated with Dravet syndrome. As we look to future clinical studies of STK-001, we are encouraged by data showing the ability to diagnose children earlier as well as the validation of tools that will help us measure the potential impact of STK-001 on cognition and quality of life.

MONARCH Phase 1/2a Current Study Design

Abst. 344. Safety and Pharmacokinetics of Antisense Oligonucleotide STK-001 in Children and Adolescents with Dravet Syndrome: Single and Multiple Ascending Dose Design for the Open-Label Phase 1/2a MONARCH Study

December 6, 2020 12:00 PM 1:30 PM; Track: 7. Antiepileptic Drugs / 7B. Clinical Trials

A review of the study design for MONARCH, the Companys ongoing Phase 1/2a study of STK-001 in children and adolescents with Dravet syndrome will be presented during a poster session by Linda Laux, M.D., Associate Professor of Pediatrics (Neurology and Epilepsy), Northwestern University Feinberg School of Medicine. Following a recent protocol amendment, MONARCH is designed to evaluate both single and multiple ascending doses of up to 30mg of STK-001 in children and adolescents with Dravet syndrome. The primary endpoints are safety, tolerability and pharmacokinetic (PK) profile of STK-001 in Dravet syndrome patients. The impact of STK-001 on frequency of convulsive seizures and quality of life are secondary endpoints of this study. Patient enrollment and dosing in MONARCH is ongoing and preliminary safety and PK data are anticipated in 2021.

Restoration of Interneuron Firing Frequency in a Dravet Mouse Model

Abst. 236. Targeted Augmentation of Nuclear Gene Output (TANGO) of SCN1A Reduces Seizures and Rescues Parvalbumin Positive Interneuron Firing Frequency in a Mouse Model of Dravet Syndrome

December 5, 2:00 PM 3:30 PM; Platform A: Translational Research / Genetics

December 6, 12:00 PM 1:30 PM; Track: 2. Translational Research / 2B. Devices, Technologies, Stem Cells

New preclinical data provide additional evidence of the potential for TANGO antisense oligonucleotides (ASOs) to provide a gene-specific, disease-modifying treatment for Dravet syndrome. In this study, Dravet syndrome mice treated with a TANGO ASO had significantly decreased seizure frequency and increased survival. Data presented by Eric Wengert, graduate student at the University of Virginia, show that 100% of mice treated with a TANGO ASO were seizure free between postnatal day 16 and postnatal day 19 compared to 50% of vehicle-treated control mice. The data also provide evidence that decreases in seizures and mortality are, in part, due to restoration of excitability of parvalbumin (PV) expressing interneurons. PV interneurons are commonly hypoexcitable in Dravet syndrome. In this study, treatment with a TANGO ASO restored Dravet syndrome mouse PV interneuron firing frequency to that of wild-type mice.

Additional Work in a Dravet Mouse Model

Antisense Oligonucleotides Increase Scn1a Expression and Reduce Seizures and SUDEP Incidence in a Mouse Model of Dravet Syndrome

December 8, 1:30 PM 4:00 PM; Annual Fundamentals Symposium: Fundamentally New Ideas in Epilepsy Treatment and Research

Lori Isom, Ph.D., Maurice H. Seevers Professor and Chair of Pharmacology, University of Michigan Medical School, will present a review of data from experiments conducted with TANGO ASOs in a mouse model of Dravet syndrome.

Early Diagnosis of Dravet Syndrome

Abst. 392. Reducing the Time to Diagnosis and Increasing the Detection of Individuals with SCN1A-related Disease Through a Sponsored Epilepsy Genetic Testing Program

December 6, 12:00- 1:30 PM; Track: 12. Genetics / 12A. Human Studies

Data from an analysis of 6,874 children who participated in a no-cost epilepsy genetic testing program co-sponsored by Stoke showed that 152 had a positive molecular diagnosis related to the SCN1A gene, accounting for 2.2% of all patients. Results demonstrated a substantial decrease in the time to diagnosis from >6 years of age (2011-2015) to <2 years of age (2019-2020).

About STK-001

STK-001 is an investigational new medicine for the treatment of Dravet syndrome currently being evaluated in a Phase 1/2a clinical trial. Stoke believes that STK-001, a proprietary antisense oligonucleotide (ASO), has the potential to be the first disease-modifying therapy to address the genetic cause of Dravet syndrome. STK-001 is designed to upregulate NaV1.1 protein expression by leveraging the non-mutant (wild-type) copy of the SCN1A gene to restore physiological NaV1.1 levels, thereby reducing both occurrence of seizures and significant non-seizure comorbidities. Stoke has generated preclinical data demonstrating proof-of-mechanism and proof-of-concept for STK-001. STK-001 has been granted orphan drug designation by the FDA as a potential new treatment for Dravet syndrome.

About the BUTTERFLY Observational Study

BUTTERFLY study, an ongoing, multicenter, longitudinal, prospective study of children and adolescents ages 2 to 18 who have been diagnosed with Dravet syndrome as a result of an SCN1A gene mutation. This observational study designed to evaluate neurodevelopmental status and change from baseline to 24 months. Secondary and exploratory endpoints in the study will evaluate changes in other disease measures, including seizures and additional non-seizure comorbidities. No investigational medications or other treatments will be provided. Participants continue to receive their usual care, and will be observed by a team of doctors and nurses over time for up to two years. The study is being conducted at approximately 20 sites in the United States.

About the Phase 1/2a Clinical Study (MONARCH)

The MONARCH study is a Phase 1/2a open-label study of children and adolescents ages 2 to 18 who have an established diagnosis of Dravet syndrome and have evidence of a pathogenic genetic mutation in the SCN1A gene. The primary objectives for the study will be to assess the safety and tolerability of STK-001, as well as to characterize human pharmacokinetics. A secondary objective will be to assess the efficacy as an adjunctive antiepileptic treatment with respect to the percentage change from baseline in convulsive seizure frequency over a 12-week treatment period. Stoke also intends to measure non-seizure aspects of the disease, such as quality of life, as secondary endpoints. Enrollment and dosing are ongoing in MONARCH and Stoke plans to enroll approximately 48 patients in the study across 20 sites in the United States.

Additional information about the MONARCH study can be found at https://www.monarchstudy.com/.

About Dravet Syndrome

Dravet syndrome is a severe and progressive genetic epilepsy characterized by frequent, prolonged and refractory seizures, beginning within the first year of life. Dravet syndrome is difficult to treat and has a poor long-term prognosis. Complications of the disease often contribute to a poor quality of life for patients and their caregivers. The effects of the disease go beyond seizures and often include severe intellectual disabilities, severe developmental disabilities, motor impairment, speech impairment, autism, behavioral difficulties and sleep abnormalities. Compared with the general epilepsy population, people living with Dravet syndrome have a higher risk of sudden unexpected death in epilepsy, or SUDEP. Dravet syndrome affects approximately 35,000 people in the United States, Canada, Japan, Germany, France and the United Kingdom, and it is not concentrated in a particular geographic area or ethnic group.

About Stoke Therapeutics

Stoke Therapeutics (Nasdaq: STOK) is a clinical-stage biotechnology company pioneering a new way to treat the underlying causes of severe genetic diseases by precisely upregulating protein expression to restore target proteins to near normal levels. Stoke aims to develop the first precision medicine platform to target the underlying cause of a broad spectrum of genetic diseases in which the patient has one healthy copy of a gene and one mutated copy that fails to produce a protein essential to health. These diseases, in which loss of approximately 50% of normal protein expression causes disease, are called autosomal dominant haploinsufficiencies. Stoke is headquartered in Bedford, Massachusetts with offices in Cambridge, Massachusetts. For more information, visit https://www.stoketherapeutics.com/ or follow the company on Twitter at @StokeTx.

Cautionary Note Regarding Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the safe harbor provisions of the Private Securities Litigation Reform Act of 1995, including, but not limited to: preclinical data and study results regarding STK-001 and Dravet syndrome, including from the BUTTERFLY study; our future operating results, financial position and liquidity; the direct and indirect impact of COVID-19 on our business, financial condition and operations, including on our expenses, supply chain, strategic partners, research and development costs, clinical trials and employees; our expectation about timing and execution of anticipated milestones, responses to regulatory authorities, expected nomination of future product candidates and timing thereof, and our ability to use study data to advance the development of STK-001; the ability of STK-001 to treat the underlying causes of Dravet syndrome; and the ability of TANGO to design medicines to increase protein production and the expected benefits thereof. These forward-looking statements may be accompanied by such words as aim, anticipate, believe, could, estimate, expect, forecast, goal, intend, may, might, plan, potential, possible, will, would, and other words and terms of similar meaning. These forward-looking statements involve risks and uncertainties, as well as assumptions, which, if they do not fully materialize or prove incorrect, could cause our results to differ materially from those expressed or implied by such forward-looking statements. These statements involve risks and uncertainties that could cause actual results to differ materially from those reflected in such statements, including: our ability to develop, obtain regulatory approval for and commercialize STK-001, OPA1 and future product candidates; the timing and results of preclinical studies and clinical trials; the risk that positive results in a clinical trial may not be replicated in subsequent trials or success in early stage clinical trials may not be predictive of results in later stage clinical trials; risks associated with clinical trials, including our ability to adequately manage clinical activities, unexpected concerns that may arise from additional data or analysis obtained during clinical trials, regulatory authorities may require additional information or further studies, or may fail to approve or may delay approval of our drug candidates; the occurrence of adverse safety events; failure to protect and enforce our intellectual property, and other proprietary rights; and the other risks and uncertainties that are described in the Risk Factors section of our most recent annual or quarterly report and in other reports we have filed with the U.S. Securities and Exchange Commission. These statements are based on our current beliefs and expectations and speak only as of the date of this press release. We do not undertake any obligation to publicly update any forward-looking statements.

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Stoke Therapeutics Announces Presentations Related to the Company's Work to Advance STK-001, the First Potential New Medicine to Target the Underlying...

King George III’s illness debunked as symptom ’caused by medicine prescribed to him’ – Express

Prince Charles identifies with 'mad' King George III says expert

George III is famous for being the mad king who lost America and his erratic behaviour is well-documented. The Crown season four, released this month, has raised awareness of the Royal Family and its rocky relationship with mental health. In episode seven, Princess Margaret, played by Helena Bonham Carter, discovers that two cousins on her mothers side were sent to a hospital for people with mental disabilities, where they had no contact with the family and were even declared dead.

The Queen Mother, played by Marion Bailey explains that they did this because there were fears people would question the integrity of the bloodline if they knew there was a genetic condition in their family that affected mental faculties.

She says: The idea that one family alone has the automatic birthright to the Crown is already so hard to justify.

The gene pool of that family, it better have 100 percent purity.

There have been enough examples on the Windsor side alone for people to worry about: King George III Prince John, your uncle.

READ MORE:Queens uncle Prince Johns illness hidden from public

You add the Bowes-Lyon illness to that, the danger is it becomes untenable.

There have been numerous other references to George IIIs supposed madness, including the long-running play by Alan Bennett, The Madness of George III, which was later adapted for film starring Nigel Hawthorne in the title role.

This play and film featured a key theory as to what caused George IIIs behaviour: that he suffered from a physical, genetic blood disorder called porphyria.

Its symptoms included aches and pains, as well as the bizarre symptom of blue urine.

However, a research project based at St Georges, University of London appears to have debunked this after finding another reason for the unusual symptom.

George IIIs medical records show that the King was being given medicine based on gentian.

The plant, with its deep blue flowers, is still used today as a mild tonic, but one of the possible side effects is that it can turn urine blue.

Indeed, it seems it may not have been his condition that caused this symptom, but actually his medicine, historian Lucy Worsley explained to the BBC.

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The research group concluded that George III actually did suffer from mental illness, most likely bipolar disorder.

This is based on thousands of handwritten letters written by the King that have been analysed by Dr Peter Garrard and Dr Vassiliki Rentoumi.

The academics looked at Georges use of language and discovered that during his episodes of illness, his sentences were much longer than when he was well.

A sentence containing 400 words and eight berns was not unusual.

Whats more, when the King was ill he often repeated himself and his vocabulary became more complex, creative and colourful.

All these features can be seen today in the writings and speech of patients experiencing the manic phase of illnesses such as bipolar.

People suffering from bipolar disorder experience periods of mania - or harmful euphoria, where they feel very high and overactive - followed by periods of depression, on the other end of the spectrum of mood, where they feel very low and lethargic.

George III experiencing mania would also match contemporary descriptions of his behaviour.

For example, observers spoke of his incessant loquacity and his habit of talking until the foam ran out of his mouth.

Sometimes he suffered from convulsions and his pages had to sit on him to keep him safe on the floor.

George IIIs recurring bouts of illness caused him to withdraw from daily business to recuperate out of the public eye at Kew Palace.

Later in life, it is believed he developed dementia too, and eventually in 1810, a regency was established.

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King George III's illness debunked as symptom 'caused by medicine prescribed to him' - Express

Stoke Therapeutics to Present at the Needham Virtual Epilepsy & Pain Specialty CNS Therapeutics Conference – Business Wire

BEDFORD, Mass.--(BUSINESS WIRE)--Stoke Therapeutics, Inc., (Nasdaq: STOK), a clinical-stage biotechnology company pioneering a new way to treat the underlying cause of genetic diseases by precisely upregulating protein expression, today announced that Chief Executive Officer Edward M. Kaye, M.D., will participate in a fireside chat at the Needham Virtual Epilepsy & Pain Specialty Therapeutics Conference on Thursday, December 10, 2020, at 12:45 p.m. ET.

A live audio webcast of the fireside chat will be available on the Investors & Media section of Stokes website at https://investor.stoketherapeutics.com/. A replay of the webcast will be available for 30 days following the presentations.

About Stoke Therapeutics

Stoke Therapeutics (Nasdaq: STOK), is a clinical-stage biotechnology company pioneering a new way to treat the underlying causes of severe genetic diseases by precisely upregulating protein expression to restore target proteins to near normal levels. Stoke aims to develop the first precision medicine platform to target the underlying cause of a broad spectrum of genetic diseases in which the patient has one healthy copy of a gene and one mutated copy that fails to produce a protein essential to health. These diseases, in which loss of approximately 50% of normal protein expression causes disease, are called autosomal dominant haploinsufficiencies. Stoke is headquartered in Bedford, Massachusetts with offices in Cambridge, Massachusetts. For more information, visit https://www.stoketherapeutics.com/ or follow the company on Twitter at @StokeTx.

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Stoke Therapeutics to Present at the Needham Virtual Epilepsy & Pain Specialty CNS Therapeutics Conference - Business Wire

Following the science: the writers who have made sense of Covid – The Guardian

This year has had the makings of an epic saga: a monstrous disease that took over the world, killing the oldest, poorest and most vulnerable, imprisoning the population in lockdown and the heroic scientists who battled day and night to create a miracle vaccine to defeat it. Books are already being written about their quest, and we will rush to read them, hoping to understand more about this terrible pandemic and how it was ended.

It has been an extraordinary year to be a science writer, watching the formerly niche subjects of epidemiology, virology and immunology take centre stage a bit like how it must be for constitutional law experts when a new Brexit detail is announced. Suddenly, being a scientist and writing about science was more interesting to the public than making movies or playing football (especially when neither of these was allowed). The scramble to get a grip on this invisible global killer was all-consuming, and writers rose to the challenge, producing reams of coverage: the disease was only officially named severe acute respiratory syndrome coronavirus 2 (Sars-CoV-2) on 11 February; by June, the first book on it had been published.

To give a flavour of the initial pace of change, on 19 January, I was part of a panel reading the papers for BBC Radio 4s Broadcasting House programme, and I picked out a story in the Observer about a new Sars-like virus in China that was thought to have affected about 1,700 people. I proposed that we should take the threat of this disease seriously, but my two fellow panellists recommended healthy scepticism, saying scientists were overreacting and that they were exhausted by next plague stories. We were all about to get much more exhausted.

Fast forward a month, and I was speaking at the same literary event as a palliative care doctor and a mathematical modeller from the London School of Hygiene & Tropical Medicine, Adam Kucharski, who was giving a talk about his new book The Rules of Contagion. His presentation involved graphs showing exponential infection rates and equations explaining R values. Watching it, I felt a little pity for him it was interesting to me, especially given the UK had experienced three cases of the new coronavirus, but who else here would have the slightest interest in R values?

Well, we all know how that panned out. Just a couple of weeks later, a parent approached me in the playground as I dropped my kids off for school, chatting about the R number. Two weeks after that, the entire nation was in lockdown. Incidentally, the palliative care doctor at the event, Rachel Clarke, became, like Kucharski, a regular on news and current affairs programmes, providing valuable expertise as the R value rose and, with it, the number of deaths.

As the world shut down, the veteran infectious diseases reporter Debora MacKenzie was gearing up for the biggest assignment of her life. A longtime correspondent for New Scientist magazine, MacKenzie has covered everything from Sars to Mers to Ebola, so her finely tuned antennae picked up signals as far back as 30 December, when she noticed a post on ProMED (the Program for Monitoring Emerging Diseases), describing an outbreak of pneumonia in Wuhan. Busy hosting a full household in her French home on the outskirts of Geneva, she kept an eye out through the holidays, becoming increasingly worried. Before January was over, she had predicted the pandemic.

I was the first journalist to call it, MacKenzie says, and after that, I continued near-constant corona reporting: 14 articles by 13 March. Meanwhile, she had been contacted by the literary agent Max Edwards, who suggested she write a crash book about the pandemic, which could be published quickly. On 6 March I sent Max the pitch; on the 17th, I got the offer from Hachette, she says. MacKenzie then entered a writing frenzy, working from 7am to midnight for 45 days straight, to produce COVID-19: The Pandemic That Never Should Have Happened, and How to Stop the Next One. It coincided with lockdown in France, so my husband was doing his job from the kitchen table. And my daughter was loudly editing horror films in the room next to my office.

Just as MacKenzie was preparing to write her first book, in Washington DC the science writer Ed Yong was downing tools. He was in the middle of a 10-month sabbatical from his staff job at the Atlantic magazine to complete a popular science book about how animals sense the world around us. Id been following the news about Covid-19, through the first months of the year, with a growing unease, Yong says. I saw it spread around the world and Im a science reporter who has covered pandemics before.

By mid March, Yong could wait no more. He returned to work and quickly established himself as a leading voice on Covid. His first big article, published on 25 March, was titled How the pandemic will end. That was a 5,000-word piece that I reported and wrote in a sort of 10-day fever-dream, he says. It hit at exactly the time when people had started going into stay-at-home orders. There was so much chaos and misinformation that it seemed this was the question that everyone was asking. I got 1,000 reader emails in the space of a couple of weeks. Tens of millions of people read the piece.

Claudia Hammond, who, like all writers, had seen literary engagements cancelled, ended up working on three different BBC radio series all about the virus. Meanwhile, she says, because of lockdown, and people being furloughed, my book The Art of Rest seems to have taken on new resonance for many people.

Like Hammond, Yong and so many science journalists, I too found myself writing almost exclusively about Sars-CoV-2 from the social psychology of herd behaviour to the epidemiology of herd immunity, from genetic sequencing to spike protein targets.

For Laura Spinney, whose 2017 book about the 1918 Spanish flu pandemic, Pale Rider, anticipated the current crisis, this has been a whirlwind of a year as the book shot into bestseller lists in multiple countries, and sold new translation rights across the world. Suddenly, she had to drop her current book projects to focus solely on Covid. Its almost like the body scientific has been affected with Covid like our actual bodies have putting all its resources into this one massive problem, Spinney says. A vast amount of research has been generated this year, with a shift towards preprints and speed, and people from other specialities focusing on it because its so urgent. Thats been fascinating to watch.

This is the first digital pandemic, with people able to watch infection and death rates evolve in real time but, as Spinney points out, compared with the 1918 pandemic, we are hardly more knowledgeable about the epidemiology figures such as the infection fatality rate (IFR) partly because were still in the midst of it. We need distance from it, to collect and make sense of the data, she says. But how can we ever know how many people were infected, say, back in March, when there were no tests and even now, tests are not completely reliable? Spinney herself contracted Covid along with her husband in September, and lost her sense of smell for two weeks, although, like many, she was not tested.

Nothing brings a global pandemic into sharper focus for a writer than nearly dying from it. Broadcaster Adam Rutherford was promoting his book about racial pseudoscience, How to Argue With a Racist, in mid March, when he started to feel a bit run down and developed a cough. He called the BBC to let them know that, like his producer and several others in the Science Unit, he probably had Covid and wouldnt be coming in. The next day, during a phone interview for the Today programme, he told Martha Kearney that he expected to be over it quickly. In fact, Rutherford was gravely ill for weeks, and now suffers from long Covid.

When I was at my very worst the ambulance was called, he says. I had been remotely diagnosed with bacterial pneumonia, which had worsened because the first course of antibiotics hadnt worked. Id been given a different course, but my oxygen saturation was down to 83 you get hospitalised when it falls to 90 so the ambulance was on its way, but there was a two-hour delay I thought I was going to die.

For Rutherford, Covid-19 has been life changing, leaving him not just with enduring breathlessness and fatigue, but new insight into disability. It makes me think a lot about how there are millions of people out there with a health issue, whether its mental or physical, or a combination of the two, which is definitional something that they have to think about all the time. And it makes one more compassionate, more empathetic, because its very easy if youre healthy just to disregard people who have health complaints.

Many searched for a genetic explanation for the spread of Covid. Early on, people started talking about a genetic predisposition to infection, which if it does exist, is going to be insignificant compared to the list of known socio-economic issues, Rutherford says. We always lean towards a new sciencey artefact, such as a genetic explanation, as something that we can maybe tackle, because were not willing to do the hard thing, which is to tackle socioeconomic inequity.

The Covid pandemic has clearly been a much broader story than the science of how a virus infects us, and many of us have worked to convey the social, economic and environmental context of this global crisis. Yong describes the pandemic as an omni crisis, because it touches every aspect of our lives. It was clear from early on that to really understand it, I would need to talk to historians and sociologists, anthropologists, scholars who understand disability rather than just virologists, epidemiologists and immunologists.

Theres a reason why the countries that have fared worst with Covid are the ones led by populist leaders. A pandemic is a complex problem that affects and is a product of our human system. Populism is a denial of complexity, and populist leaders have tended to look for simple answers and to spin politically useful decisions as being based on the science.

In the US, the Trump administration openly trashed science and the nations most eminent experts. There, attitudes to Covid divided on political partisan lines, largely driven by Trump downplaying the risks. By contrast, the UK prime minister declared he was being led by the science, and appeared flanked by scientists at daily press conferences. Yet Johnsons government increasingly ignored the advice of its own scientific advisers. Worse, it exploited the public trust in scientists to push through favoured policies or excuse its actions, including the unedifying journey of Dominic Cummings, against which neither the chief scientific adviser nor chief medical officer spoke out. While many other scientists made clear their opposition to government policies, the science risked becoming increasingly politicised and co-opted by public figures with little or no scientific literacy.

There were fears of a public erosion of trust not just in government but also in scientists, just as trust was most needed. Weve seen a rise in conspiracy theories, and for every science writer rigorously explaining research findings, there has been a high-profile commentator opining against mask-wearing, denying official infection figures and spreading misinformation.

For someone like me who has written extensively about the climate crisis over the years, this all felt very familiar: the politicisation of science, the evidence-deniers and so on. Indeed many of the same financial backers and lobbyists were involved. Despite all this, public interest in science remains strong and, with the announcements of effective vaccines, white-coated lab scientists have become the heroes we all need. The tale of painstaking discovery, and the triumph of experts, has become the dominant narrative. After months of misery, there is a huge appetite for it.

In the grip of a pandemic winter, we are still a long way from delivering the happy ending, but the scientific discoveries made this year in testing, treatments and now vaccines have been a vindication of the scientific process, a story of international collaboration, selfless determination and belief in human solutions. There will be huge numbers of books written about this pandemic, studies of politics and economics, memoirs and novels. But look out for the science ones they have the power to root our drama in the workings of biology, human systems, and the scientific quest to solve a global catastrophe. And there have never been better writers to capture this extraordinary story.

Transcendence: How Humans Evolved Through Fire, Language, Beauty, and Time by Gaia Vince is out in paperback from Penguin.

By Mark Honigsbaum

Perhaps no commentator has been in greater demand this year than Adam Kucharski, a disease modeller based at the London School of Hygiene & Tropical Medicine, whose book The Rules of Contagion: Why Things Spread and Why They Stop is an accessible guide to the mathematical rules that govern the spread of infectious diseases in populations. Written before the pandemic and published in February, it makes a convincing case that just as mathematics can predict the arc of an epidemic, so it can also help us understand how social contagions, from financial panics to vaccine conspiracy theories, go viral.

In Covid-19: The Pandemic That Never Should Have Happened and How to Stop the Next One, the veteran New Scientist contributor Debora MacKenzie explains how scientists have been warning for years about the dangers posed by novel pathogens harboured by bats and other wild animals. The fault for our present predicament, she suggests, lies with politicians for failing to take the warnings seriously and not investing more in pandemic planning.

Richard Horton, editor of the Lancet, would not disagree with that verdict, but thinks that the governments scientific advisers should share the blame. In The Covid-19 Catastrophe: Whats Gone Wrong and How to Stop It Happening Again, Horton describes Britains botched response to Covid-19 as the greatest science policy failure for a generation. Scientists had all the data they needed about the threat posed by the coronavirus at the end of January, he argues, but rather than advocating for stricter measures they colluded with the government, who were keen to keep the economy ticking over.

The coronavirus is not the only animal pathogen to have leapt to humans, of course. In his influential book Spillover: Animal Infections and the Next Human Pandemic, published in 2012, David Quammen explains how the last half century or so has been marked by a succession of spillover events, from HIV and Ebola to less well-known viruses such as Hendra and Marburg. Travelling deep into the rainforest with the scientists hoping to identify the next pandemic pathogen, Quammens book is plotted like a detective thriller.

Though she is not a science journalist, Zadie Smiths essay Contempt as a Virus, which appears in her collection Intimations, captures in precise, measured prose the sense of exceptionalism and contempt for the rules exhibited by Dominic Cummings in his now infamous press conference in Downing Streets rose garden. Cleverly co-opting the language of epidemiology, Zadie quips that while back in February herd immunity had been a new concept for the people, for Cummings it was simply the seamless continuation of a long-held personal credo. Immunity. From the herd.

Mark Honigsbaum is the author of The Pandemic Century: A History of Global Contagion from the Spanish Flu to Covid-19.

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Following the science: the writers who have made sense of Covid - The Guardian