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The association of APOE genotype with COVID-19 disease severity | Scientific Reports - Nature.com

CAMBRIDGE, Mass., Aug. 4, 2022 /PRNewswire/ --Omega Therapeutics, Inc. (Nasdaq: OMGA) ("Omega"), a clinical-stage biotechnology company pioneering the first systematic approach to use mRNA therapeutics as a new class of programmable epigenetic medicines by leveraging its OMEGA Epigenomic Programming platform, today announced financial results for the second quarter ended June 30, 2022, and highlighted recent Company progress.

"This has been an exciting second quarter for Omega, in which we were thrilled to receive FDA clearance of our first IND application for OTX-2002, representing the first ever Omega Epigenomic ControllerTM, a new class of programmable mRNA therapeutics. This is a critical milestone for Omega as we enter our next phase of growth and reflects our pioneering work to realizethe potential ofepigenomic programming," said Mahesh Karande, President and Chief Executive Officer of Omega Therapeutics. "Additionally, we were also pleased to share exciting, new supportive preclinical data, both from our lead program OTX-2002 in hepatocellular carcinoma, as well as from another program in our pipeline focused on non-small cell lung cancer, a potential future indication. We look forward to continuing this momentum as we enter the clinic in the second half of this year and further exploring the broad ranging capabilities of our novel platform in additional therapeutic areas."

Recent Business Highlights

Development Pipeline and Platform

Corporate

Second Quarter 2022 Financial Results

As of June 30, 2022, the Company had cash, cash equivalents and marketable securities totaling $173.7 million.

Research and development (R&D) expenses for the second quarter of 2022 were $19.4 million, compared to $11.2 million for the second quarter of 2021. The $8.2 million increase in R&D expense was primarily driven by an increase in personnel-related expenses, external manufacturing costs, and study costs in support of the advancement of our programs

General and administrative (G&A) expenses for the second quarter of 2022 were $6.2 million, compared to $3.6 million for the second quarter of 2021. The $2.6 million increase in G&A expense was primarily driven by an increase in personnel-related expenses to support business growth.

Net loss for the second quarter of 2022 was $25.9 million, compared to $15.4 million for the second quarter of 2021, driven predominantly by increased R&D and G&A expenses to support the Company's growth and operations as a public company.

About Omega Therapeutics

Omega Therapeutics, founded by Flagship Pioneering, is a clinical-stage biotechnology company pioneering the first systematic approach to use mRNA therapeutics as a new class of programmable epigenetic medicines. The company's OMEGA Epigenomic Programming platform harnesses the power of epigenetics, the mechanism that controls gene expression and every aspect of an organism's life from cell genesis, growth, and differentiation to cell death. Using a suite of technologies, paired with Omega's process of systematic, rational, and integrative drug design, the OMEGA platform enables control of fundamental epigenetic processes to correct the root cause of disease by returning aberrant gene expression to a normal range without altering native nucleic acid sequences. Omega's modular and programmable mRNA medicines, Omega Epigenomic Controllers, are designed to target specific epigenomic loci within insulated genomic domains, EpiZips, from amongst thousands of unique, mapped, and validated genome-wide DNA-sequences, with high specificity to durably tune single or multiple genes to treat and cure diseases through Precision Genomic Control. Omega is currently advancing a broad pipeline of development candidates spanning a range of disease areas, including oncology, regenerative medicine, multigenic diseases including immunology, and select monogenic diseases, including alopecia.

For more information, visitomegatherapeutics.com, or follow us onTwitterandLinkedIn.

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. All statements contained in this press release that do not relate to matters of historical fact should be considered forward-looking statements, including without limitation statements regarding the timing and design of our Phase 1/2 MYCHELANGELOTM clinical trial; the potential of the OMEGA platform to engineer programmable epigenetic mRNA therapeutics that successfully regulate gene expression by targeting insulated genomic domains; expectations surrounding the potential of our product candidates, including our lead OEC candidate OTX-2002; and expectations regarding our pipeline, including trial design, initiation of preclinical studies and advancement of multiple preclinical development programs in oncology, immunology, regenerative medicine, and select monogenic diseases. These statements are neither promises nor guarantees, but involve known and unknown risks, uncertainties and other important factors that may cause our actual results, performance or achievements to be materially different from any future results, performance or achievements expressed or implied by the forward-looking statements, including, but not limited to, the following: the novel technology on which our product candidates are based makes it difficult to predict the time and cost of preclinical and clinical development and subsequently obtaining regulatory approval, if at all; the substantial development and regulatory risks associated with epigenomic controller machines due to the novel and unprecedented nature of this new category of medicines; our limited operating history; the incurrence of significant losses and the fact that we expect to continue to incur significant additional losses for the foreseeable future; our need for substantial additional financing; our investments in research and development efforts that further enhance the OMEGA platform, and their impact on our results; uncertainty regarding preclinical development, especially for a new class of medicines such as epigenomic controllers; potential delays in and unforeseen costs arising from our clinical trials; the fact that our product candidates may be associated with serious adverse events, undesirable side effects or have other properties that could halt their regulatory development, prevent their regulatory approval, limit their commercial potential, or result in significant negative consequences; the impact of increased demand for the manufacture of mRNA and LNP based vaccines to treat COVID-19 on our development plans; difficulties manufacturing the novel technology on which our OEC candidates are based; our ability to adapt to rapid and significant technological change; our reliance on third parties for the manufacture of materials; our ability to successfully acquire and establish our own manufacturing facilities and infrastructure; our reliance on a limited number of suppliers for lipid excipients used in our product candidates; our ability to advance our product candidates to clinical development; and our ability to obtain, maintain, enforce and adequately protect our intellectual property rights. These and other important factors discussed under the caption "Risk Factors" in our Quarterly Report on Form 10-Q for the quarter ended June 30, 2022, and our other filings with the SEC could cause actual results to differ materially from those indicated by the forward-looking statements made in this press release. Any such forward-looking statements represent management's estimates as of the date of this press release. While we may elect to update such forward-looking statements at some point in the future, we disclaim any obligation to do so, even if subsequent events cause our views to change.

Investor contact: Kevin MurphyArgot Partners212.600.1902[emailprotected]

Media contact: Jason Braco, Ph.D.LifeSci Communications646.751.4361[emailprotected]

Omega Therapeutics, Inc.

Condensed consolidated statements of operations and comprehensive loss

(thousands, except share and per share amounts)

Three Months Ended June30,

Six Months Ended June30,

2022

2021

2022

2021

Collaboration revenue from related party

$

476

$

$

743

$

Operating expenses:

Research and development

19,387

11,184

33,659

20,933

General and administrative

6,202

3,637

11,336

6,452

Related party expense, net

741

384

1,562

763

Total operating expenses

26,330

15,205

46,557

28,148

Loss from operations

(25,854)

(15,205)

(45,814)

(28,148)

Other expense, net:

Interest expense, net

(55)

(190)

(210)

(402)

Change in fair value of warrant liability

(11)

(340)

Other expense, net

(3)

(4)

(52)

(8)

Total other expense, net

(58)

(205)

(262)

(750)

Net loss

$

(25,912)

$

(15,410)

$

(46,076)

$

(28,898)

Net loss per common stock attributable to common

stockholders, basic and diluted

$

(0.54)

$

(3.36)

$

(0.96)

$

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Omega Therapeutics Reports Second Quarter 2022 Financial Results and Highlights Recent Company Progress - PR Newswire

SAN FRANCISCO--(BUSINESS WIRE)--1health.io Inc. (1health), an industry-leading healthcare tech company that empowers laboratories to make diagnostic testing accessible and affordable at scale, announces the launch of its Next Generation Diagnostic Platform.

With 1healths innovative platform, laboratories can expand market reach in the clinical and direct-to-consumer segments, and launch tests to healthcare providers, clinicians, and consumers faster, all while offering improved accuracy and an intuitive user interface.

Building on its years of healthcare experience and processing nearly four million diagnostic tests since 2021, 1health has created its next gen platform to enable labs to track insurance, obtain physician authorization, facilitate test ordering and shipping, report on test results quickly, and more. Test ordering is automated in such a way that any testing process - no matter how simple or complex - can be configured into a repeatable, easy-to-use approach. The platforms accuracy and speed enable doctors to focus more on individualized patient care and provide better outcomes for population health. In addition, the platform enables labs to outsource services needed in a product testing workflow to partner organizations. Labs can also stand up a direct-to-consumer store in days using 1health.

1healths Next Generation Diagnostic Platform is modern, cloud-based, secure and compliant, and easy-to-use for all types of testing. It drives affordable, accurate, and timely healthcare outcomes which in turn lead to higher patient satisfaction and better lives lived.

We are entering an exciting age of precision medicine powered by next generation testing and diagnostic services. 1healths mission is to help our lab partners make testing easy to access, affordable, and simple to order, states Mehdi Maghsoodnia, Chief Executive Officer of 1health.

With our direct-to-consumer capabilities, labs can enlist a 3PL to handle shipping and logistics, send orders automatically to specific physicians for review and approval, and, if desired, allow businesses to re-package tests with their own product brand, states Nikhil Arun, VP of Product at 1health. The flexibility, speed, and market reach that 1health offers labs is unprecedented, adds Arun.

No question that 1health is revolutionizing the lab testing experience for patients and healthcare providers, states customer Blaine Smith, COO at Apollo Health Group. In addition, the ability to get a lab up and running in 30 days is an incredibly fast timeline for this kind of deployment, adds Smith.

1healths Next Generation Diagnostic Platform saves precious time, reduces chronic process errors, improves testing visibility, and provides global reach of critical lab tests that may not be available locally. The end result is stronger, more-trusted relationships between laboratories and their customers, better healthcare outcomes for consumers, and ultimately more lives saved.

About 1health.io

1health is driving healthcare innovation by revolutionizing the way laboratories service medical providers and consumers. By providing a modern, secure, and easy-to-use software platform, 1health enables lab testing results to be accurately delivered in minutes, not days or weeks, thereby reducing costs and expanding growth opportunities for laboratories. The result is stronger, more-trusted relationships between laboratories and their customers, better healthcare outcomes for consumers, and ultimately more lives saved.

1health is proud to help leading-edge laboratories like St. Jude Labs, Thomas Scientific, Lucira Health, Gene by Gene, Apollo Health Group, Premier Lab Solutions, and many others and provides testing services to hundreds of leading enterprise companies including Raleys, Starbucks, General Motors Cruise, and the U.S. Air Force. Learn more at: 1health.io.

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Revolutionizing Healthcare Testing: 1health Unveils Next Generation Diagnostic Platform that Enables Precision Medicine at Scale - Business Wire

image:Collaboration between the Global Alliance for Genomics and Health (GA4GH) and the Standards Council of Canada resulted in GA4GH Phenopackets being published as an ISO standard. view more

Credit: GA4GH / Stephanie Li

The International Organization for Standardization (ISO) has published Phenopackets, the first clear computational way to responsibly share individual patient traits, removing a major barrier to research on disease diagnosis, treatment, and mechanism discovery.

The standard was initially developed by the Global Alliance for Genomics and Health (GA4GH) and championed at ISOunder the Canadian Mirror Committee to ISO/TC215/SC1Genomics informatics, and supported by the Standards Council of Canada.

We finally have the very first standard for phenotype data available worldwide, said University of Colorado professor Melissa Haendel, a GA4GH contributor who launched the Phenopacket idea eight years ago.

Having this ISO standard will encourage software developers, infrastructure developers, healthcare systems to consider Phenopackets as a method for sharing patient-level information securely and in a deidentified way that can be useful for everything from rare to infectious diseases, and addressing many kinds of public health questions, Haendel said.

The standard, ISO 4454 Genomics informatics Phenopackets: A format for phenotypic data exchange, was published on 6 July 2022.

Phenopackets debuted at ISO thanks to theleadership of GA4GH and through the support of Canadas National Member Body, theStandards Council of Canada (SCC), and itsInnovation Initiative.

Beyond furthering the UN Sustainable Development goals for good health and innovation, Phenopackets has the potential to benefit a range of Canadian and global organisations, from Google to the Canadian Institute of Health Research to the Red Cross.

A Phenopacket is a packet of data typically a file that humans and computers can read. It describes a personsphenotype, a term for the way our genes manifest in our bodies, such as hair colour, hormone levels, or a bad reaction to a drug.

For more than a millennium, physicians have used the same technology for recording and sharing phenotypes: the written note.

While handwritten scrawl has morphed into sophisticated electronic health records, fundamentally, little has changed. Clinicians may record two patients identical phenotypes in vastly different ways that are difficult to compare.

For bioinformaticians studying how genes affect our chances of cancer, rare disease, and illness, this freewheeling flexibility is a problem.

If somebody gives you a piece of paper with a bunch of scribbled stuff and says, Do research with that, youre going to go, Well I dont know what that is! You have to read it, understand it, extract all the data, and make sense of it in your head. And that takes time, said Julius Jacobsen, a bioinformatics software developer at Queen Mary University of London who co-leads the GA4GH team working on Phenopackets.

But the Phenopacket provides a sense of how all the bits fit together, like a blank form. All someone has to do is fill in the pre-existing fields, and then they can give you a nice piece of structured information which anyone can understand, said Jacobsen.

So in 2019, GA4GH the worlds standards organisation for genomics approved thePhenopacket standardfor storing phenotypic data in predictable formats that computers everywhere can read.

A few months later, the newly-formed ISO Genomics Informatics subcommittee met in the South Korean city of Daegu. The group chose Phenopackets as one of its very first standards to develop, working in tandem with GA4GH contributors updating the original version of the standard. (Phenopackets v2was adopted forthe ISO standard after being approved in February.)

To officially propose Phenopackets to ISO, GA4GH Work Stream manager Lindsay Smith, who is based at the Ontario Institute for Cancer Research in Toronto, collaborated with the Canadian Mirror Committee to ISO/TC215/SC1, with the support of SCC.

Through programs like its Innovation Initiative, SCC helps innovators to commercialise technologies and facilitates their participation on national and international standardisation committees for the benefit of economic growth and the health and safety of Canadians.

Finding ways to advance health technologies has been an important area of interest for the Innovation Initiative, said Chantal Guay, CEO of SCC. Developing an ISO standard is key to aligning perspectives internationally and promoting shared health information across the world.

Many rounds of reviews from ISO experts in Japan, India, Canada, the U.S., and Korea ensured that Phenopackets would work in diverse healthcare systems.

In Japan, a network of 14 major biobanks has implemented Phenopackets, with 920,000 samples and 250,000 genomic and omics data provided by 490,000 individuals,said Soichi Ogishima, a member of the ISO project team that reviewed Phenopackets.

Researchers can access phenotypic information with GA4GHs Phenopackets standard for capturing clinical data and integrating them with genomic data to develop precision medicine,added Ogishima, a professor of genomic informatics at Tohoku University in Sendai, Japan.

The humble Phenopacket has the potential to transform the treatment of common disease.

Asthma, inflammatory bowel disease, schizophrenia, and other complex conditions are unlikely to be one disease. But its been difficult to divide these diseases into groups that respond to specific treatments. One reason is because everybody uses their own formats, so you cannot combine data, said Peter Robinson, a computational biologist at the Jackson Laboratory who co-leads the GA4GH Phenopackets development team.

By using Phenopackets, well be able to improve precision medicine for individuals by being able to compare and cluster patients based upon their individual characteristics, he said.

The standard could also improvestudy and diagnosis of rare disease.

There should be a tool for patients to share their information as Phenopackets, said Haendel. Right now, there are rare disease patients all over social media sharing free text that could be structured in such a way that we could mine it as data for example, to identify patients who have the same condition around the world.

Patient matchmaking would get easier with a database of cases described in the Phenopacket format.

Many journals in human genetics are willing to consider cajoling or requiring authors to submit Phenopackets together with case reports. Usually if you find a new disease gene, youll describe ten patients, but none of that information is accessible at the patient level, said Robinson.

In June, Robinson, Jacobsen, Haendel, Smith, and collaborators published anarticle inNature Biotechnologyoutlining how Phenopackets lets researchers and cliniciansexchange patient characteristics more effectively and link those data to genomic information.

While the Phenopacket schema is stillavailable free of costfrom GA4GH, ISO publication significantly broadens its reach. Beyond Japanese biobanks, databases like the widely-used BioSamples have already implemented Phenopackets. Electronic health record vendors and national health systems are considering the standard.

As an added benefit, any organisation that adopts Phenopackets can easily link to other powerful clinical and research tools from the GA4GHGenomic Data Toolkit.

Going forward, there are plans to build Phenopackets into standards for sharing electronic health records, such as Fast Healthcare Interoperability Resources (FHIR) by the Health Level 7 (HL7) organisation.

Phenopackets was chosen as one of HL7sVulcan Accelerator projects. Accelerator projects try to improve how clinical studies are designed, conducted and reported by advancing the implementation of research-ready standards. A project to represent Phenopackets in the FHIR standard is underway to make sure that this schema thats now an ISO standard can also be used in the context of HL7, said Haendel.

Phenopackets may be the first GA4GH standard published by ISO, but it will not be the last. Currently, the ISO Genomics Informatics subcommittee is reviewing a proposed standard for genomic surveillance systems such as the public health systems that track Covid-19 variants spreading around the world. GA4GH standards feature prominently within the requirements.

When standards development organisations align their work, everyone benefits.

The ISO publication of Phenopackets exemplifies the benefits of standards coordination. When different standards-setting bodies collaborate, it amplifies the impact of all our standards. Truly global standards expand responsible data sharing and bring the benefits of precision medicine to more patients and their families, said Peter Goodhand, Chief Executive Officer of GA4GH.

#

About the Global Alliance for Genomics and Health (GA4GH)

The Global Alliance for Genomics and Health (GA4GH) is an international, nonprofit alliance formed in 2013 to accelerate the potential of research and medicine to advance human health. Bringing together 600+ leading organisations working in healthcare, research, patient advocacy, life science, and information technology, the GA4GH community is working together to create frameworks and standards to enable the responsible, voluntary, and secure sharing of genomic and health-related data.

About the Standards Council of Canada (SCC)

Since 1970, the Standards Council of Canada (SCC) has helped make life safer, healthier, more prosperous and sustainable for people, communities and businesses in Canada through the power of standardization. SCC works with a vast network of partners nationally and around the world, acting as Canadas voice on standards and accreditation on the international stage, including as a member of the International Organization for Standardization (ISO) and International Electrotechnical Commission (IEC). As the countrys leading accreditation organization, SCC creates market confidence at home and abroad by ensuring conformity assessment bodies meet the highest expectations. In all these ways, SCC opens a world of possibilities. For more information, visithttps://www.scc-ccn.ca(link is external)

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Reshaping how doctors and researchers share phenotypic information: first GA4GH standard published by ISO - EurekAlert

MONDAY, July 4, 2022 (HealthDay News) Researchers studying genes involved in Alzheimers disease have identified a new gene, called MGMT, that increases risk for this common dementia in women.

This is one of a few and perhaps the strongest associations of a genetic risk factor for Alzheimers that is specific to women, said co-senior study author Lindsay Farrer, chief of biomedical genetics at Boston University School of Medicine.

For the new study, a team from the University of Chicago and Boston University School of Medicine looked for genetic links using two unrelated datasets and different methods.

One dataset was from a large family of Hutterites, a central European group whose isolated culture and small gene pool have made it a popular focus for studying genetic determinants of disease. All the people studied for Alzheimers in this data were women.

The team also analyzed genetic data from a pool of 10,340 women who lacked APOE4. That gene, a well-known Alzheimers risk factor, is carried by about 60% of people with European ancestry and about 26% of the general population.

For both sets of data, the new gene MGMT was significantly associated with developing Alzheimers disease.

This finding is particularly robust because it was discovered independently in two distinct populations using different approaches," Farrer said. "While the finding in the large dataset was most pronounced in women who dont have APOE4, the Hutterite sample was too small to evaluate this pattern with any certainty.

Alzheimers disease is the most common cause of dementia and affects more than 5.8 million people in the United States.

This study highlighted the value of founder populations for genetic mapping studies of diseases like Alzheimers, said co-senior study author Carole Ober, chairwoman of human genetics at the University of Chicago.

Additional study will be needed to understand why MGMT influences Alzheimers risk in women. The authors noted that the study demonstrates the importance of searching for risk factors that may be specific to one gender.

The findings were published June 30 in Alzheimers & Dementia: The Journal of the Alzheimer's Association.

More information

The Alzheimers Association has more information on Alzheimers disease.

SOURCE: Boston University School of Medicine, news release, June 30, 2022

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Research Spots Gene That Raises Alzheimer's Risk for Women - HealthDay News

Your blood type can reveal much more about your health than you think! According to Penn Medicine and the National Library of Medicine, certain blood types are associated more with specific diseases, but don't panic just yet. Choices like diet, fitness and good habits play a major role in health as well, so while you may be at a slightly increased risk, keeping a healthy lifestyle makes a difference. Penn Medicine physician Dr. Douglas Guggenheim, MD, Hematology, Medical Oncology said, "While your blood type may put you at a higher risk for certain conditions, nothing is definitive. Being aware of how your blood type may impact your health is a good start, but it's also just as important to see your physician for regular check-ups and maintain a healthy lifestyle." Read onand to ensure your health and the health of others, don't miss these Sure Signs You've Already Had COVID.

The National Library of Medicine says, "The susceptibility to various diseases, such as cancer, cardiovascular diseases, infections and hematologic disorders, cognitive disorders, circulatory diseases, metabolic diseases, and malaria, has been linked with ABO blood groups. Moreover, blood group AB individuals were found to be susceptible to an increased risk of cognitive impairment which was independent of geographic region, age, race, and gender. Disorders such as hypertension, obesity, dyslipidemia, cardiovascular disease (CVD), and diabetes were also more prevalent in individuals with cognitive impairment." The site added, "Several studies related to the ABO phenotype show that genetically determined human ABO blood groups were correspondingly linked with an increased risk of various infectious and noninfectious diseases. However, further investigations are needed particularly on the molecular level of ABO blood groups and their association with various diseases."

The National Library of Medicine explains, "Stomach Cancer is the fourth most public cancer worldwide and the second leading cause of cancer deaths; reliable studies since the 1950s have shown that blood type A persons have about a 20% higher risk of stomach cancer than blood type O individuals. The 2012 metadata analysis showed that type A persons had an odds ratio of 1.11 and type O persons had an odds ratio of 0.91 for gastric cancer; in addition, blood type A persons had significantly greater rates of H. pylori infection than non-A blood type victims (oddsratio = 1.42). This is important because a current study of ABO blood types and H. pylori found that the risk of advanced precancerous gastric lesions was considerably affected by the presence or absence in the bacterial DNA of two SNPs in the cytotoxin-associated gene A (CagA), recognized as CagA-positive and CagA-negative strains. Thus, ABO antigens on the gastric epithelium are binding sites for the H. pylori bacterium, which then injects CagA virulence protein into the cellular cytoplasm."6254a4d1642c605c54bf1cab17d50f1e

Penn Medicine reports, "It may seem obvious that your blood type is related to your heart, since your heart pumps blood to the rest of your body. But your blood type can actually put you at a higher risk for conditions such as heart attack and heart disease. This is because of a gene called the ABO gene a gene that's present in people with A, B, or AB blood types. The only blood type that doesn't have this gene is Type O. If you have the ABO gene and you live in an area with high pollution levels, you may be at a greater risk of heart attack than those who don't have the gene."

Dr. Guggenheim said, "The ABO gene can also increase your risk of coronary artery disease (CAD). CAD develops when the arteries that supply blood to and from your heart harden and narrow which can cause a heart attack if they become blocked."

Penn Medicine states, "There are plenty of factors that have been connected with a higher risk of cancer, and it can sometimes be hard to know which ones to look into more seriously than others. However, people with Type A blood have been found to have a higher risk of stomach cancer specifically, compared to those with other blood types. The ABO gene may play a role with a heightened cancer risk, as well. This gene has been connected to other cancers, including lung, breast, colorectal, prostate, liver, and cervical cancers. This correlation has been studied for more than 60 years, and while research continues to show a correlation, there is no definitive explanation as to why the ABO gene may put you at a higher risk for some cancers."

According to Penn Medicine, "The ABO gene is connected with brain function and memory loss. People who have blood types A, B, and AB are up to 82 percent more likely to develop cognition and memory problems which can lead to dementia compared to those with Type O. One possible reason for this memory loss is the fact that blood type can lead to things like high blood pressure, high cholesterol, and diabetes. These conditions can cause cognitive impairment and dementia. Blood type has been connected with stroke, too, which can occur when the blood flow to the brain is disrupted."

Heather Newgen

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If You Have This Blood Type, Be Worried About Your Health Eat This Not That - Eat This, Not That

The 2021 H.L. Holmes Award was presented to Dr. Khalid Al-Zahrani for his novel advancements in breast cancer research. In developing a never-before-seen method, he is able to screen for specific cancer driving genes and has validated his research with promising results.

Over two years, the $180,000 award will support Dr. Al-Zahrani in the development of a gene system to identify the cause of basal-like breast cancer (BLBC). As BLBC disproportionally affects younger, premenopausal women and has a relatively poor clinical prognosis, his research will expand our knowledge of this aggressive cancer subtype which could greatly improve existing treatment methods.

Dr. Al-Zahrani will continue to work with Mount Sinai's Lunenfeld-Tanenbaum Research Institute in Toronto where he has been a post-doctoral research fellow since 2019 in Dr. Daniel Schramek's group, a world-renowned expert in genetic models of cancer. Dr. Al-Zahrani completed his Ph.D. (Philosophy, Cellular and Molecular Medicine) and B.Sc. (Specialization in Biochemistry) at the University of Ottawa and has published over a dozen articles in scientific and medical journals. As a Canadian with roots in Scotland and Saudi Arabia, Dr. Al-Zahrani is excited to develop new medicine that will help people worldwide.

Already, Dr. Al-Zahrani is exploring the uncharted field of BLBC copy number alterations with the development of a novel in vivo CRISPR technology. BLBC copy number alterations are parts of the DNA that are gained or lost that cause tumors to develop from normal cells, and in vivo refers to experiments in whole, living organisms. Using the CRISPR system, researchers can edit genes by activating or deactivating specific parts of genetic code, which allows for precise manipulation of DNA. Dr. Al-Zahrani is a pioneer in the field of BLBC genetics as he aims to understand the underlying mechanisms that drive cancer cells. His findings may uncover new approaches in the way we provide treatment.

Over two years, Dr. Al-Zahrani generated 14 different gene targeting systems in hopes of finding an all-in-one solution to target and screen specific cancer cells. He developed a technology termed KOALA (Knock-Out and Activation Linked Assay) which, when paired with CRISPR, can pick out certain parts of genetic code and trigger precise activation or deactivation. Overcoming numerous roadblocks, he finally achieved a system sufficient for use in mouse specimens. His method will allow for screening of specific BLBC genes and may ultimately identify parts of genetic code that trigger tumor growth. Importantly, KOALA allows for the rapid screening of thousands of cancer-causing genes in a single experiment, whereas conventional techniques screen a single potential cancer-causing gene at a time. The efficiency of his system is validated by discovering several new potential targets for treating BLBC. This is a pivotal step in understanding breast cancer as it greatly improves upon existing methodologies by saving both time and money in the identification of important cancer-driving genes. In combination with conventional tumor-suppressing gene therapy, identification of specific cancer-causing genes allows for highly targeted therapeutic approaches.

While mouse models are suitable for initial experiments, Dr. Al-Zahrani will carefully evaluate further findings in human patient samples. His innovative progress has the potential to uncover new effective cancer treatments and improve the clinical prognosis of basal-like breast cancer.

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Twenty-one million. Thats the number of genetic variations in the human genome that researchers are sifting through to identify patterns predisposing people to Alzheimers disease.

Thanks to international collaboration being advanced by faculty of The University of Texas Health Science Center at San Antonio, also known as UT Health San Antonio, more genetic variations for Alzheimers disease are known today than ever before. The list of gene variants recognized for late-onset Alzheimers grew from one in 2009 to 40 in 2022 and, this spring, scientists published an expanded list of 75, some of which are considered prime drug targets.

Its a huge haystack, and Alzheimers-related genetic variations, like needles, are miniscule in comparison. Dr. Sudha Seshadri, Habil Zare, Ph.D., and other faculty at the UT Health San Antonio Glenn Biggs Institute for Alzheimers and Neurodegenerative Diseases are investigators on a global project to help answer many of Alzheimers riddles.

Seshadri is a founding principal investigator of the International Genomics of Alzheimers Project, or IGAP. Biggs Institute faculty contributed data for the newest research from IGAP, published in Nature Genetics, and helped craft worldwide discussion on implications of the findings.

Genomic data of half a million people were used in this latest IGAP study, including 30,000 people with confirmed Alzheimers disease and 47,000 people categorized as proxies.

In Alzheimers disease research you need many samples, because some of these variants are very rare, and if you want to detect them, you need to study many, many people, said Zare, assistant professor of cell systems and anatomy in the Joe R. and Teresa Lozano Long School of Medicine and an expert in computational biology and bioinformatics. The only way to get there is through collaboration between centers and consortia, and IGAP was established for such kind of collaboration.

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We are looking for the genetic basis so as to better understand all the different types of biology that may be responsible for Alzheimers disease, said Seshadri, founding director of the Biggs Institute and professor of neurology in the Long School of Medicine. As we include data from more and more people, we are able to find variants that are fairly rare, that are only seen in about 1% of the population.

In 2009, the year of the first genome-wide association studies, researchers knew of one gene, called APOE, associated with late-onset Alzheimers disease. Before journal publication on April 4, 2022, researchers had a list of 40 such genes. This new paper confirmed 33 of them in a larger population sample and added 42 new genetic variants not described before.

The study published in Nature Genetics is confined to certain people groups, which makes it impossible to generalize the gene variations worldwide.

One of the challenges with this paper, as well, is it is largely in persons of European ancestry, Seshadri said. So we hope to bring, over the next few years, a much larger sample of Hispanic and other minority populations to further improve gene discovery.

The South Texas Alzheimers Disease Research Center (ADRC), a collaboration of the Glenn Biggs Institute at UT Health San Antonio and The University of Texas Rio Grande Valley, is on a mission to bring the regions sizable Hispanic population into genetic studies and other initiatives such as clinical trials. ADRCs are National Institute on Aging Centers of Excellence.

Older Hispanic adults are estimated to be at 1.5 times greater risk of Alzheimers and other dementias than non-Hispanic whites. Dementia is costing individuals, caregivers, families and the nation an estimated $321 billion in 2022, according to the Alzheimers Association.

As the quest to end the suffering endured by individuals and families continues, the researchers acknowledge the partners who play significant roles.

We would like to thank each of the collaborators within IGAP, and all the patients and families that join such studies, and the National Institute on Aging, which is our funder, Seshadri said.

Read about this research findingthat increases the worlds knowledge of Alzheimers disease and sparks drug potential.

The Glenn Biggs Institute for Alzheimers and Neurodegenerative Diseases at UT Health San Antonio is a National Institute on Aging-designated Alzheimers Disease Research Center dedicated to providing comprehensive dementia care while advancing treatment through clinical trials and research.

UT Health San Antonio, South Texas largest research university, has an annual research portfolio of $350 million and a Department of Education designation as a Hispanic-Serving Institution. Its Long School of Medicine is listed among U.S. News & World Reports best medical schools, ranking in the top 30% nationwide for research.

Learn more about how UT Health San Antonio does everything it takes to make lives better.

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UT Health San Antonio on global team discovering Alzheimers clues - San Antonio Report

As a child, geneticist Beth Burton wanted to be a music teacher. At age 6, she started playing piano and later spent years accompanying school choirs in her hometown of Wilmington, Delaware.

But in high school, she took her first biology class, and she was hooked.

More than a decade later, Burton now studies the genetic causes of Alzheimers disease as a Ph.D. candidate in the Perelman School of Medicine. But pivoting to science didnt mean abandoning her art; she earned a bachelors degree in piano and still practices often.

Now in her fourth year, Burton moves through grad school without compromising her love for music, her creativity, or any of the other traits that she says define her. In doing so, she says she hopes to inspire others as she finds her own path to success.

Not long after that first influential biology course, Burton was diagnosed with Ehlers-Danlos syndrome, a genetic disorder that affects the development and function of collagen and can lead to joint pain and digestive issues. Its a rare condition, not well understood and currently without a cure.

The diagnosis only deepened Burtons interest in biology and genetics. Alongside her degree in piano, Burton pursued a bachelors degree in biochemistry and molecular biology at Gettysburg College. Within her first year, she developed an interest in genetic research, so she applied to the Childrens Hospital of Philadelphia Research Institutes Summer Scholars Program.

There she began working with Struan Grant, a professor of pediatrics who researches the genetic causes of disease and disorder. Her experience in Grants lab the summer before sophomore year confirmed that she had made the right choice. I just loved the culture; I loved how collaborative everyone was, says Burton. I had a fantastic 10 weeks in lab.

She returned the next summer. And the summer after that.

When she finally graduated from Gettysburg in May 2018, she knew that she wanted to pursue a Ph.D. in genetics and to do it at Penn. That fall, she started at the Perelman School of Medicine. During her first year, she spent some time in the lab of Christopher Brown, a professor of genetics who, like Grant, researches how mutations in certain genes may cause disease. Together, the three of them developed a new project that would use genetics to understand the causes of Alzheimers disease.

Alzheimers is the sixth leading cause of death in the United States and the only one in the top 10 without a cure or effective treatment. By studying differences in the genes of people with and without Alzheimers, Burton wants to help change that.

In order to do so, she heads to the lab. She takes microglia, the brains immune cells, with the genetic variations for Alzheimers, then edits out a variation of interest. By observing the differences between the edited and unedited cells, Burton can determine whether the genetic variation was implicated in Alzheimers, offering potential targets for drugs and treatments in the long term.

For now, Burton is still on the hunt, narrowing her search to a few sections of DNA that she has strong evidence are associated with causing Alzheimers. Even at this stage, Grant says that the methods Burton has developed to connect genes to disease might work for all kinds of genetic health issues, from diabetes and obesity to sleep and bone disease.

What we learn from her deep dive on a particular genetic signal will really inform research beyond Alzheimers, says Grant.

Even while investigating the causes of the disease, Burton has refused to let unique aspects of herself take a back seat. In her day-to-day and on social media, Burton is vocal about her experience with Ehlers-Danlos syndrome. In part, this serves as a gentle nudge to peers in the scientific community. Scientists want to help, but it can be so easy to just talk about genetic disorders in scientific jargon and forget that were studying things that affect real people, says Burton. Im one of those real people.

Burton says she hopes that being open about her own struggles might help others believe that they have a place in science regardless of their physical limitations.

For similar reasons, Burton speaks freely about her identity as a bisexual woman. Burton says she knew from a young age that she wasnt only attracted to boys, but didnt make sense of what that meant until college, when she encountered people like her who identified as bisexual.

Seeing those people out and open with their experiences is what helped me to figure out my identity, she says. If I can be that person for someone else, that would make it all worth it.

After finishing her Ph.D., Burton plans to pursue a postdoctoral fellowship. Ultimately, she wants to become a professor in genetics and run a research lab.

While working toward her professional goals, Burton plans to enjoy the rest of her time at Penn doing what she loves: Spending time with friends, petting her rabbit, Mr. Penguin, and unwinding at the piano, a passion that influenced her time in lab, Grant says. Beth is very artistic. She cant help but bring her creativity to research.

Often, after a long day in lab, Burton goes back home and sits at the piano, where she can turn back to her first love.

At night, I can just play whatever, she says. The music has given me a lot.

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Identities in harmony | Penn Today - Penn Today

ReportLinker

Genotyping is a technique used to detect minor genetic abnormalities that can contribute to significant phenotypic changes, such as physical distinctions that distinguish individuals from one another and pathological changes that underpin disease.

New York, July 04, 2022 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Global Genotyping Market Size, Share & Industry Trends Analysis Report By Product, By Application, By End Use, By Technology, By Regional Outlook and Forecast, 2022 2028" - https://www.reportlinker.com/p06289249/?utm_source=GNW It has a wide range of applications in basic science, medicine, and agriculture.

By comparing DNA sequences to other sequences, the genotyping test is a widely used method for identifying DNA sequence and genetic composition. Modern genotyping assays include several key properties, such as high efficiency, operational flexibility, and accessibility to several parameters in a single test. Increased funding by governments of various nations to promote genotyping assay methodologies, increased cases of chronic and genetic disorders around the world.

Genetic mutations such as single nucleotide variants, copy number variants, and major structural alterations in DNA can all be investigated through genotyping. On a molecular level, high-throughput genomic technologies like next-generation sequencing (NGS) and microarrays can provide a better knowledge of disease etiology. Genotyping data analysis systems may examine results for thousands of indicators and probes and identify sample abnormalities, revealing the functional implications of genetic diversity.

In the medical field, genotyping is used to diagnose to prevent the spread of tuberculosis (TB). Initially, genotyping was only used to verify tuberculosis pandemic but, with the advancement of genotyping technology, it can now accomplish much more. Due to advances in genotyping technology, it was discovered that in various tuberculosis cases, infected individuals living in the same house, were not genuinely linked. Due to socio-epidemiological aspects, universal sequencing revealed complex transmission dynamics. As a result, polymerase chain reactions (PCR) were developed, allowing for speedier tuberculosis testing. This approach of quick detection is utilized to avoid tuberculosis. Whole-genome sequencing (WGS) enabled the identification of TB strains, which could subsequently be placed on a historical cluster map.

COVID-19 Impact

Technological developments, the rising prevalence of cancer and genetic abnormalities, and increased R&D investment for precision medicine research are all contributing to the expansion. Furthermore, the COVID-19 pandemic had a favorable impact on the genotyping market, as increased demand for COVID-19 genotyping kits resulted in the pandemic. The pandemic of COVID-19 has had an enormous influence on the Genotyping business. SNP genotyping is being used to detect SARS-CoV-2 variations, which is increasing market growth. For example, Helen Harper et al. discovered that PACE (PCR Allele Competitive Extension) SNP genotyping techniques provide useful viral genotype detection for SARS-CoV-2 positive samples in a paper published in the PLOS ONE Journal in February 2021.

Market Growth Factors

DNA Sequencing Prices are Decreasing Due to Technological Advances

Miniaturization, automation, and lower total costs of DNA sequencing have all been enabled by technological improvements, as well as increased flexibility and the introduction of multi-parameter testing. This has aided in expanding the uses and accessibility of DNA sequencing, allowing clinicians to concentrate on higher-level decisions such as selecting and prioritizing therapeutic targets through various genotyping studies. This has enhanced the use of PCR, sequencing, capillary electrophoresis, and microarrays in domains including drug development and clinical research. Researchers have been able to take use of the most modern technology improvements in SNP identification due to their ability to find vast numbers of SNP markers.

Increased Genotyping Application Areas

Pharmacogenomics, diagnostic research, personalized medicine, and forensics are all potential uses for genotyping platforms. This technique is also suitable for a variety of veterinary applications, food hygiene, and atmospheric testing in distant places and industrial settings. Human diagnostics and pharmacogenomics now have substantial marker potential since these segments require large-scale genotyping analysis due to the need for better treatment choices and the high prevalence of the disease. NGS is being adapted for this purpose, with businesses like QIAGEN and Freenome (US) collaborating to create NGS-based assays for precision medicine.

Market Restraining Factors

The High Cost of Genotyping Equipment

The devices required for genotyping testing are costly, and their installation involves a large capital outlay. The qPCR systems range in price from USD 20,000 to USD 30,000, whereas dPCR systems range from USD 65,000 to USD 70,000 for manual dPCR and USD 100,000 for automated dPCR. NGS sequencers range in price from $19,900 to $1 million. The NovaSeq 5000 and NovaSeq 6000 sequencers from Illumina are priced at around USD 850,000 and USD 985,000, respectively. Genotyping instruments have a lot of advanced features and functions, hence theyre expensive. Pharmaceutical companies and research institutes require a big amount for the installation of these systems, which necessitates large investments in a large amount of high genotyping machines.

Product Outlook

Based on Product, the market is segmented into Reagents & Kits, Instruments, and Software & Services. The software & service segment recorded a substantial revenue share in the genotyping market in 2021. Due to the increased usage of software-based solutions by testing facilities and academic institutions, the software & services segment is expected to grow at a high rate. Bioinformatics enhances overall efficacy of sequencing procedures and aids in the avoidance of errors that might occur with standard sequencing methods. Agri genomics, animal livestock, human diseases, and microbes all benefit from these services.

Application Outlook

Based on Application, the market is segmented into Diagnostics & Personalized Medicine, Agricultural Biotechnology, Pharmacogenomics, Animal Genetics, and Others. The Diagnostics & Personalized segment acquired the highest revenue share in the genotyping market in 2021. It is because of the expanding usage of genotyping products for investigation and the growing need for the identification of genetic illnesses, diagnostics and personalized medicine hold the largest proportion of the genotyping market. Personalized medicine involves the integration of genetic, molecular, and environmental variability into existing approaches to knowledge and management of illnesses.

End Use Outlook

Based on End Use, the market is segmented into Diagnostics & Research Laboratories, Pharmaceutical & Biopharmaceutical Companies, Academic Institutes, and Others. The Pharmaceutical & Biopharmaceutical segment witnessed a significant revenue share in the genotyping market in 2021. Increasing importance of pharmacogenomics in drug development, as well as FDA recommendations for pharmacogenomics investigations and genotyping in the drug discovery process, Pharmacogenomics is being used by companies to produce new medications. For example, Pfizer is studying the efficacy of Talazoparib in patients with somatic BRCA mutation-resistant metastatic breast cancer in a genotyping-based clinical trial.

Technology Outlook

Based on Technology, the market is segmented into PCR, Sequencing, Capillary Electrophoresis, Microarray, Mass Spectrometry, and Others. The PCR segment garnered the highest revenue share in the genotyping market in 2021. It is due to the Adoption of advanced diagnostic techniques is developing, as is the number of CROs, forensic and research laboratories, along with the prevalence of diseases including chronic diseases and genetic disorders. The typical approach for genetic analysis, polymerase chain reaction, is used in PCR genotyping. After amplifying DNA or RNA sequences using specified primers and electrophoresis to check for size and quality, they can be isolated and purified.

Regional Outlook

Based on Regions, the market is segmented into North America, Europe, Asia Pacific, and Latin America, Middle East & Africa. The North America segment garnered the largest revenue share in the genotyping market in 2021. The growing use of advanced technologies, the presence of large pharmaceutical and biopharmaceutical businesses, proactive government policies, and advancements in healthcare infrastructure. Another important aspect contributing to the regions strong market share is the presence of big businesses and authorities investing in genotyping.

The market research report covers the analysis of key stake holders of the market. Key companies profiled in the report include F. Hoffmann-La Roche Ltd., Danaher Corporation, Agilent Technologies, Inc., Thermo Fisher Scientific, Inc., Qiagen N.V., Illumina, Inc., Bio-Rad Laboratories, Inc., Eurofins Scientific Group, and Fluidigm Corporation.

Strategies deployed in Genotyping Market

Jan-2022: Eurofins Scientific completed the acquisition of Genetic Testing Service JSC, a leading enterprise in genetic testing in Vietnam. This acquisition aimed to improve Eurofins expansion in Asia and achieve its global network of clinical diagnosis laboratories concentrated on advanced and specialized genetic testing. Additionally, Gentis has a highly effective test and product menu, which would asset from the Eurofins networks broad catalog of genomic and genetic tests and its approach to additional industries.

Jan-2022: Illumina signed a definitive co-development agreement with SomaLogic, a protein biomarker discovery and clinical diagnostics company. Through this agreement, the companies aimed to launch SomaScan Proteomics Assay within Illuminas active & future growth bandwidth next-generation sequencing platforms. Additionally, Illumina would start a multi-year advancement attempt to combine SomaLogics protein objective volume with Illuminas arranging technologies, DRAGEN, and informatics toolsets software to generate a complete end-to-end NGS functionality solution.

Aug-2021: Thermo Fisher Scientific introduced a TaqMan SARS-CoV-2 Mutation Panel to identify the Delta and Lambda strains. The advanced biosystem allows laboratories to record known mutations by choosing from more than 50 assays intended to screen for various variants. Additionally, the biosystem is extremely ascendable, permitting up to hundreds of samples to be tested to recognize one or various mutations so labs can measure observation tasks based on testing requirements.

Apr-2021: Bio-Rad Laboratories unveiled the ddPCR Assays for AAV Viral Titer and the Vericheck ddPCR Mycoplasma Detection Kit. The two assays support the production and advancement of safe and adequate cell and gene treatments. Moreover, ddPCR product offerings in the gene and cell treatment space reverse overall dedication to informing the global requirement for effective and safe healing.

Oct-2020: Bio-Rad Laboratories unveiled CFX Opus 384 and CFX Opus 96 along with BR.io, a cloud-based data management, instrument connectivity, and analysis platform. The Real-time PCR Systems portray the next generation of the enterprise CFX Real-Time PCR Systems that utilized in analysis and genomic testing along with pathogen observation and contagious disorder diagnosis.

Jan-2020: Roche teamed up with llumina, the global leader in DNA sequencing and array-based technologies. Under this collaboration, the company aimed to widen the adaptation of distributable next-generation sequencing-based testing in oncology. Additionally, Illumina would allow Roche the privilege to distribute and develop in-vitro diagnostic trails on Illuminas NextSeq 550Dx System, along with its future offering of diagnostic sequencing systems, containing the impending NovaSeqDx.

Jan-2020: Thermo Fisher Scientific introduced Axiom Propel, activated Biosystems for Genotyping workflow. The solution developed to enable laboratories to ramp up quickly by reducing the requirements for the various liquid manager and decreasing running prices through the use of recyclable allocating cassettes and minimum labware.

Dec-2018: Illumina introduced the Infinium Global Diversity Array, a new dept genotyping array. The Infinium would be a high-density chip developed to allow the accomplishment of the main genotyping focused objective of the project.

Sep-2018: Danaher Corporation completed the acquisition of Integrated DNA Technologies, a privately-held supplier of high-value consumables for genomics applications. Under this acquisition, the company aimed to expand its existence into the highly appealing genomics industry and would help play a central role in boosting consumer research and time to market as they design crucial diagnostic tests and conceivable life-saving treatments.

Mar-2018: QIAGEN joined hands with Natera, a clinical genetic testing company. This collaboration aimed to design advanced, cell-free DNA assays to utilize on QIAGENs GeneReader NGS System. Additionally, cell-free DNA assays would be advanced to leverage on the GeneReader NGS System, the first completely combined specimen to Insight NGS solution, and developed to allow tests, such as prenatal screening, for laboratories and hospitals across the world.

Scope of the Study

Market Segments covered in the Report:

By Product

Reagents & Kits

Instruments

Software & Services

By Application

Reagents & Kits

Instruments

Software & Services

By End Use

Diagnostics & Research Laboratories

Pharmaceutical & Biopharmaceutical Companies

Academic Institutes

Others

By Technology

PCR

Sequencing

Capillary Electrophoresis

Microarray

Mass Spectrometry

Others

By Geography

North America

o US

o Canada

o Mexico

o Rest of North America

Europe

o Germany

o UK

o France

o Russia

o Spain

o Italy

o Rest of Europe

Asia Pacific

o China

o Japan

o India

o South Korea

o Singapore

o Malaysia

o Rest of Asia Pacific

LAMEA

o Brazil

o Argentina

o UAE

o Saudi Arabia

o South Africa

o Nigeria

o Rest of LAMEA

Companies Profiled

F. Hoffmann-La Roche Ltd.

Danaher Corporation

Agilent Technologies, Inc.

Thermo Fisher Scientific, Inc.

Qiagen N.V.

Illumina, Inc.

Bio-Rad Laboratories, Inc.

Eurofins Scientific Group

Fluidigm Corporation

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The Global Genotyping Market size is expected to reach $30.9 billion by 2028, rising at a market growth of 14.7% CAGR during the forecast period -...