Daily Archives: May 3, 2022

GPH101 is an investigational next-generation gene-edited therapy designed to potentially provide a one-time cure for patients

SOUTH SAN FRANCISCO, Calif., May 03, 2022--(BUSINESS WIRE)--Graphite Bio, Inc. (Nasdaq: GRPH), a clinical-stage, next-generation gene editing company harnessing the power of high-efficiency precision gene repair to develop therapies with the potential to treat or cure serious diseases, today announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track Designation to GPH101 for the treatment of sickle cell disease (SCD). GPH101 is an investigational next-generation gene-edited autologous hematopoietic stem cell (HSC) therapy designed to directly correct the genetic mutation that causes SCD.

"The FDAs decision to grant Fast Track Designation to GPH101 for sickle cell disease signifies the need for novel medicines for this serious genetic disease and supports the ongoing development of our unique gene correction approach that we believe could offer a definitive cure for sickle cell patients," said Josh Lehrer, M.D., M.Phil., chief executive officer of Graphite Bio. "This designation has the potential to accelerate the development of GPH101, which we are advancing with the goal of precisely and efficiently correcting the genetic mutation that is the underlying cause of sickle cell disease. We continue to enroll patients in our Phase 1/2 CEDAR trial and expect to dose our first patient later this year, with initial proof-of-concept data anticipated next year."

The FDAs Fast Track program facilitates the expedited development and review of new drugs or biologics that are intended to treat serious or life-threatening conditions and demonstrate the potential to address unmet medical needs. GPH101 was previously granted orphan drug designation by the FDA.

About GPH101 for Sickle Cell DiseaseGPH101 is an investigational next-generation gene-edited autologous hematopoietic stem cell (HSC) therapy designed to directly correct the genetic mutation that causes sickle cell disease (SCD). SCD is a serious, life-threatening inherited blood disorder that affects approximately 100,000 people in the United States and millions of people around the world, making it the most prevalent monogenic disease worldwide. GPH101 is the first investigational therapy to use a highly differentiated gene correction approach that seeks to efficiently and precisely correct the mutation in the beta-globin gene to decrease sickle hemoglobin (HbS) production and restore adult hemoglobin (HbA) expression, thereby potentially curing SCD.

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Graphite Bio is evaluating GPH101 in the CEDAR trial, an open-label, multi-center Phase 1/2 clinical trial designed to assess the safety, engraftment success, gene correction rates, total hemoglobin, as well as other clinical and exploratory endpoints and pharmacodynamics in patients with severe SCD.

About Graphite BioGraphite Bio is a clinical-stage, next-generation gene editing company harnessing the power of high-efficiency precision gene repair to develop a new class of therapies to potentially cure a wide range of serious and life-threatening diseases. Graphite Bio is pioneering a precision gene editing approach that could enable a variety of applications to transform human health through its potential to achieve one of medicines most elusive goals: to precisely "find & replace" any gene in the genome. Graphite Bios UltraHDR gene editing platform is designed to precisely correct genetic mutations, replace entire disease-causing genes with functional genes or insert new genes into predetermined, safe locations. The company was co-founded by academic pioneers in the fields of gene editing and gene therapy, including Maria Grazia Roncarolo, M.D., and Matthew Porteus, M.D., Ph.D.

Learn more about Graphite Bio by visiting http://www.graphitebio.com and following the company on LinkedIn.

Forward-Looking StatementsStatements we make in this press release may include statements which are not historical facts and are considered forward-looking statements within the meaning of Section 27A of the Securities Act of 1933, as amended (the "Securities Act"), and Section 21E of the Securities Exchange Act of 1934, as amended (the "Exchange Act"). These statements may be identified by words such as "aims," "anticipates," "believes," "could," "estimates," "expects," "forecasts," "goal," "intends," "may," "plans," "possible," "potential," "seeks," "will," and variations of these words or similar expressions that are intended to identify forward-looking statements. Any such statements in this press release that are not statements of historical fact, including statements regarding the clinical and therapeutic potential of our UltraHDR gene editing platform and our product candidates, the timing for dosing the first patient in our Phase 1/2 CEDAR clinical trial of GPH101 and the availability of initial proof-of-concept data from the trial, and our ability to accelerate the development of GPH101 as a result of the receipt of Fast Track Designation, may be deemed to be forward-looking statements. We intend these forward-looking statements to be covered by the safe harbor provisions for forward-looking statements contained in Section 27A of the Securities Act and Section 21E of the Exchange Act and are making this statement for purposes of complying with those safe harbor provisions.

Any forward-looking statements in this press release are based on Graphite Bios current views about our plans, intentions, expectations, strategies and prospects only as of the date of this release and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by such forward-looking statements, including the risk that we may encounter regulatory hurdles or delays in patient enrollment and dosing, and in the progress, conduct and completion of our Phase 1/2 CEDAR trial and our other planned clinical trials. These risks concerning Graphite Bios programs and operations are described in additional detail in its periodic filings with the SEC, including its most recently filed periodic report, and subsequent filings thereafter. Graphite Bio explicitly disclaims any obligation to update any forward-looking statements except to the extent required by law.

View source version on businesswire.com: https://www.businesswire.com/news/home/20220503005073/en/

Contacts

Company Contact: Stephanie YaoVP, Communications and Investor Relations443-739-1423syao@graphitebio.com

Investors: Stephanie AscherStern IR, Inc.212-362-1200ir@graphitebio.com

Media: Sheryl SeapyReal Chemistry949-903-4750media@graphitebio.com

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Graphite Bio Announces U.S. FDA Fast Track Designation Granted to GPH101 for the Treatment of Sickle Cell Disease - Yahoo Finance

BRISBANE, Calif.--(BUSINESS WIRE)--Sangamo Therapeutics, Inc. (Nasdaq: SGMO), a genomic medicine company, today announced that the American Society of Gene & Cell Therapy (ASGCT) has accepted eight Sangamo abstracts for presentation at the 25th ASGCT Annual Meeting being held May 16-19, 2022, in-person in Washington, D.C. and in a virtual format. Presentations will focus on the progression of Sangamos pre-clinical programs emerging from its genomic engineering platform.

The data to be presented at ASGCT reflect the diversity and versatility of Sangamos genomic engineering platform, which is being deployed across a range of pre-clinical programs, said Jason Fontenot, Ph.D., Chief Scientific Officer at Sangamo. We look forward to demonstrating the robust pre-clinical knowledge and innovation that continues to emerge from our research efforts, to deliver transformative medicines to patients in need.

Data to be presented at the ASGCT Annual Meeting include an oral presentation of a study looking at Sangamos innovative genetically engineered adeno-associated virus (AAV) capsid platform for delivery to the central nervous system (CNS) after cerebrospinal fluid administration. With protection from the blood-brain barrier, current gene delivery to the CNS continues to be an obstacle. Sangamos AAV capsids are designed to overcome that barrier, providing broad CNS access while minimizing exposure to a patients pre-existing anti-AAV antibodies. Another Sangamo AAV capsid presentation will outline CNS delivery via intravenous administration.

Other presentations at the ASGCT Annual Meeting will showcase how Sangamo is advancing its proprietary zinc finger platform development efforts, including its high-efficiency base-editing program in human cells and its use of zinc finger transcription factors for multiplex engineering of CAR-T cells without imparting changes to the genetic code. Sangamo will also present data from its CAR-Treg cell therapy platform, including outlining advancements in pre-clinical allogeneic Treg engineering.

ASGCT Annual Meeting Presentations and Invited Sessions

Viral Engineering for the Central Nervous System

Genomic Engineering Platform Evolution

Engineered CAR-Treg Platform

All abstracts for the ASGCT Annual Meeting are available on ASGCTs website.

About Sangamo Therapeutics

Sangamo Therapeutics is a clinical-stage biopharmaceutical company with a robust genomic medicines pipeline. Using ground-breaking science, including our proprietary zinc finger genome engineering technology, and manufacturing expertise, Sangamo aims to create new genomic medicines for patients suffering from diseases for which existing treatment options are inadequate or currently dont exist. For more information about Sangamo, visit http://www.sangamo.com.

Sangamo Forward Looking Statements

This press release contains forward-looking statements based on Sangamo's current expectations. These forward-looking statements include, without limitation, statements relating to Sangamos technologies, the presentation of data from various therapeutic and research programs and the potential of these programs to demonstrate therapeutic benefit and transform the lives of patients. These statements are not guarantees of future performance and are subject to certain risks and uncertainties that are difficult to predict. Factors that could cause actual results to differ include, but are not limited to, the research development process, including the results of clinical trials; the regulatory approval process for product candidates; and the potential for technological developments that obviate technologies used by Sangamo. Actual results may differ from those projected in forward-looking statements due to risks and uncertainties that exist in Sangamo's operations and business. These risks and uncertainties are described more fully in our Securities and Exchange Commission filings and reports, including in our Annual Report on Form 10-K for the year ended December 31, 2021. Forward-looking statements contained in this announcement are made as of this date, and Sangamo undertakes no duty to update such information except as required under applicable law.

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Sangamo Therapeutics to Present Data From Its Next-Generation Technologies at 2022 Annual Meeting of the American Society of Gene & Cell Therapy...

Jenny Ting, PhD, the William Kenan Distinguished Professor of Genetics, and Ralph Baric, PhD, the William Kenan Distinguished Professor of Epidemiology and Microbiology & Immunology, were elected as members of the American Academy of Arts & Sciences.

UNC-Chapel Hill faculty members Ralph Baric, Virginia Gray, and Jenny Ting were elected as members of the American Academy of Arts & Sciences this spring.

Jenny Ting is the William R. Kenan Jr. Distinguished Professor in the UNC Department of Genetics at the UNC School of Medicine. Her research focuses on using cutting edge ideas and technology to understand disease-relevant issues such as innate immunity, gene regulation, and inflammation among others.

Ralph Baric is the William R. Kenan Jr. Distinguished Professor in the Department of Epidemiology at the UNC Gillings School of Global Public Health and Professor in the Department of Microbiology and Immunology at the UNC School of Medicine. His research specializes in coronaviruses and infectious diseases using molecular, genetic and biochemical approaches.

Ting and Baric are both members of the UNC Lineberger Comprehensive Cancer Center.

Virginia Gray is professor emerita in the College of Arts & Sciences political science department. Her teaching experience includes a variety of American politics courses, such as interest groups, state politics, fieldwork in the legislature and public policy. Her research spans a variety of topics, including state interest groups and public policy.

The three join the 39 UNC-Chapel Hill faculty previously elected to the American Academy of Arts and Sciences.

Founded in 1780, the American Academy of Arts and Sciences is both an honorary society and an independent research center. Members are elected from across disciplines, professions and perspectives to examine new ideas, address issues and advance the public good. Membership is an honor, and also an opportunity to shape ideas and influence policy in areas as diverse as the arts, democracy, education, global affairs, and science. said Chair of the Academys Board of Directors Nancy C. Andrews. Over 13,500 members have been elected since its founding.

The new members join a distinguished group of individuals elected to the Academy before them. Notable members include Benjamin Franklin in 1781, Charles Darwin in 1874, Albert Einstein in 1924, Martin Luther King, Jr. In 1966, Stephen Jay Hawking in 1984, and Condoleezza Rice in 1997.

The complete list of individuals elected in 2022, including 37 International Honorary Members from 16 countries, is availablehere.

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Ting, Baric Elected to American Academy of Arts & Sciences | Newsroom - UNC Health and UNC School of Medicine

Symposium Convenes Leading Advocates, Researchers and Clinicians To Tackle Critical Issues Facing Innovators in Rare Disease

ALISO VIEJO, Calif., May 03, 2022--(BUSINESS WIRE)--Global Genes, a leading rare disease patient advocacy organization, today announced its 7th annual RARE Drug Development Symposium (RDDS), in partnership with the Orphan Disease Center at the University of Pennsylvania. The two-day event will bring together rare disease advocacy leaders and researchers to identify barriers to research, create solutions, and accelerate progress for the rare disease community.

From June 8-10, leaders will meet in-person to engage in peer-to-peer, interactive small group workshops and discussions covering topics such as accelerated clinical trials, the use of AI-driven screening platforms, emerging models and partnerships, and fostering successful connections between rare disease stakeholders.

Alongside the workshops, the symposium will feature speakers from throughout the rare disease community and provide networking opportunities designed to create meaningful connections and deepen relationships between advocates, researchers, and leaders.

Each morning, industry leaders will host fireside chats about their experiences in their areas of specific expertise.

Thursday Fireside Chat: What are the Keys to Accelerating Rare Disease Research?

The speakers will include:

Paul Howard, PhD - Senior Director of Public Policy, Amicus Therapeutics

David Fajgenbaum, MD, MBA, MSc, Assistant Professor, Perelman School of Medicine at the University of Pennsylvania

Carla Rodriguez Watson, PhD, MPH - Director of Research, Reagan-Udall Foundation

Friday Fireside Chat: What Can We Do Together?

The speakers will include:

Eric Marsh, MD, PhD - Clinical Director, ODC, University of Pennsylvania

Nicole Boice - Founder, Rare-X

Sarita Edwards - Founder & CEO, E.WE Foundation

"We know that for many rare disease patients the burden to fund, research and advocate for rare disease drug development often falls to caregivers and families, most of whom have no experience in drug development," said Craig Martin, CEO of Global Genes. "Its incumbent on us to work together to share knowledge in order to ensure that viable therapeutic approaches have the best possible chance of reaching patients."

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Following the event, Global Genes and the Orphan Disease Center at the University of Pennsylvania will publish a comprehensive report summarizing key takeaways, proposed solutions, and tactical steps forward.

"As we co-host our 7th RDDS we are emboldened by the leadership within the rare disease community and are grateful for those who are participating in this important event," said Jim Wilson, MD, PhD, Director, Gene Therapy Program; Rose H. Weiss professor and director, Orphan Disease Center; and professor in the Departments of Medicine and Pediatrics at the Perelman School of Medicine at the University of Pennsylvania. "By combining efforts, we can seek to create therapeutic resolutions that may lead to treatment for rare disease states of all kinds."

In addition to the in-person RDDS event, Global Genes will host and share a series of webinars, educational videos and resources throughout the remainder of the year.

Sponsors for the 7th Annual RARE Drug Development Symposium include:Gold sponsor: Horizon TherapeuticsSilver sponsors: Editas Medicine, Janssen, Sanofi, and Travere Therapeutics;Bronze sponsors: Alexion, Pfizer, Regeneron, and UCBPartner sponsors: Avidity Biosciences, Beam Therapeutics, BioCryst, Daiichi-Sankyo, and Ovid Therapeutics; andIndustry session sponsor: Sangamo Therapeutics

Registration for the symposium is now open. For more information on the event, view a video invitation from Craig Martin and Jim Wilson.

About Global Genes

Global Genes is a 501(c)(3) non-profit organization dedicated to eliminating the burdens and challenges of rare diseases for patients and families globally. In pursuit of our mission, we connect, empower, and inspire the rare disease community to stand up, stand out, and become more effective on their own behalf helping to spur innovation, meet essential needs, build capacity and knowledge, and drive progress within and across rare diseases. We serve the more than 400 million people around the globe and nearly one in 10 Americans affected by rare diseases. If you or someone you love has a rare disease or are searching for a diagnosis, contact Global Genes at 949-248-RARE or visit our Resource Hub.

View source version on businesswire.com: https://www.businesswire.com/news/home/20220503005287/en/

Contacts

Global Genes:Laura VinciFinn Partners402-499-8203laura.vinci@finnpartners.com

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Global Genes and the Orphan Disease Center of the University of Pennsylvania Host 7th Annual RARE Drug Development Symposium - Yahoo Finance

On April 13, renowned scientist Richard Young, Ph.D., from the Massachusetts Institute of Technology (MIT), presented Nuclear Condensates in Gene Regulation and Disease as part of the NIEHS Distinguished Lecture Series. He is a professor of biology at MIT and a member of the Whitehead Institute for Biomedical Research in Cambridge, Massachusetts.

According to Young, in recent years, scientists have found that an increasingly important aspect of the cell involves biomolecular compartments without membranes, which researchers call condensates. Such condensates play a role in many cellular processes, ranging from DNA damage repair and immune signaling to cell division and gene regulation.

Gene regulation is the process used to control the timing, location, and amount in which genes are expressed, according to the National Human Genome Research Institute. The process can be complicated and is carried out by a variety of mechanisms, including through regulatory proteins and chemical modification of DNA. Gene regulation is key to the ability of an organism to respond to environmental changes.

Youngs team hypothesizes that disruption of nuclear condensates, whether due to genetic or perhaps environmental factors, may play a role in diseases such as cancer and type 2 diabetes. Recently, his group created a catalog of nearly 36,000 mutations that they think likely contribute to dysregulation of condensates.

So far, weve been able to validate a small portion of that catalog, said Young, describing ongoing work. He said that going forward, the catalog will provide a strong foundation for novel research into disease and therapeutics.

Young told attendees that nuclear condensates appear to be highly sensitive to the environment, although much more research is needed to determine how various agents may affect their function and influence human health.

Francesco DeMayo, Ph.D., chief of the NIEHS Reproductive and Developmental Biology Laboratory, hosted Youngs talk. Among his other research, DeMayo studies how transcription factors, which are proteins that help to turn certain genes on or off, affect reproduction.

According to DeMayo, in researching reproduction, many scientists look to chemical compounds that interfere with the bodys endocrine system, known as endocrine disruptors. He noted that Youngs research raises a novel question.

Maybe some of these [environmental] factors live in the condensates thats an area that is prime for research, DeMayo said. In other words, is there a class of pollutants that doesnt interact directly with transcription factor proteins but lives in condensates and causes disease?

Young is a professor of biology at MIT and a member of the Whitehead Institute for Biomedical Research. He is a member of both the National Academy of Sciences and the National Academy of Medicine, and in 2006, he was recognized by the magazine Scientific American as one of the top 50 leaders in science, technology, and business. In 2013, he founded Syros Pharmaceuticals and continues as director of the company.

To learn more about Youngs research, visit his labs website.

Citations:Sabari BR, Dall'Agnese A, Young RA. 2020. Biomolecular condensates in the nucleus. Trends Biochem Sci 45(11):961977.

Boija A, Klein IA, Young RA. 2021. Biomolecular condensates and cancer. Cancer Cell 39(2):174192.

(Catherine Arnold is a contract writer for the NIEHS Office of Communications and Public Liaison.)

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May 2022: Nuclear condensates' role in gene regulation, disease focus of talk - Environmental Factor Newsletter

Terms such as race, ethnicity, and ancestry are concepts that define human diversity and help to categorize patients in medical settings. Knowing these characteristics of patients sometimes helps practitioners know their risks of certain diseases and how to address them in care. However, authors of a recent study say there is no common and standardized definition of these terms, making it more difficult for researchers and medical providers to understand and use this data in a way that makes sense and is in the best interest of the patient.

A study about this language was conducted by two NIH-funded research collaborations, the Clinical Genome Resource (ClinGen) and the Clinical Sequencing Evidence Generating Research consortium (CSER). They administered survey questions to medical professionals to learn about how they conceptualized the meaning of race, ethnicity, and ancestry. They also asked about how they used and collected patient data pertaining to race, ethnicity, and ancestry. The surveys were given to non-clinical genetics researchers and clinical genetics professionals.

The researchers surveyed 448 professionals working in some kind of genetics field. Some worked directly with patients as genetic counselors, some worked with patient samples in a lab setting, and others were genetics researchers that did not work in a medical setting. All but 87 of the professionals surveyed, however, were clinical.

The survey included 121 questions consisting of both multiple choice and spoken interviews. First, participants were asked about their jobs, duties, and experience in the field. Then, they gathered their demographic data such as their sex, gender, race, ancestry, and ethnicity.

To get a better understanding of how genetics professionals define race, ethnicity, and ancestry, they were asked to rate how well they think certain definitions describe those terms. For example, do these terms describe a biological group, a cultural group, a genetic lineage group, a lifestyle/behavioral group, a population group, religious group, social identity group, or species group?

Next, they were asked how important they thought it was to order genetic tests for patients. Their choices were, Im not sure, It depends, Important, and Very important. Adding to that, they asked the participants what circumstances might motivate them to order genetic testing.

The last set of questions focused on the importance of race, ethnicity, and ancestry when interpreting the findings of genetic tests. For example, a variant of a certain gene may appear more often in certain groups of people, and that variant may be related to a health condition or disease risk factor.

The survey results provided the team with at least some baseline information toward efforts to standardize these terms. Many participants believed defining REA as a religious group was a poor definition, while a smaller number of participants rated the term population group as somewhat of an appropriate definition. The most popular definition was genetic lineage group, and participants seemed to think ancestry was more important than race or ethnicity for medical care. The researchers point out how difficult ancestry is to assess, making this an interesting finding.

About half of the participants (217) believed it is important to know the race, ethnicity, and ancestry of patients, the region they come from, and the diseases that afflict those groups and regions in order to best serve them. The results indicated that most of the respondents thought that data pertaining to race, ethnicity, and ancestry may be necessary for analyzing genetic results. However, when asked if race, ethnicity, and ancestry were needed for working directly with patients in hospitals or doctors offices, participants revealed mixed opinions. Less than half of participants reported that any of the diversity measures were likely to inform how they communicate to patients.

Based on the feedback from the participants, the majority thought diversity measures were moderately important for communication with patients about genetic tests, ordering tests, and analyzing the results of tests. Furthermore, the majority felt that guidelines would be helpful for the use and collection of this data.

Given the results, it seems that genetics professionals have an inconsistent understanding of race, ethnicity, and ancestry in both clinical professions and research. With that said, the authors explain that these terms must be standardized, justified, and evidence-based in order to prevent bias and inconsistency in medical care and research.

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Race, ethnicity, and ancestry have no standard definitions in medicine - Sciworthy

University of Virginia School of Medicine scientists have identified a potential way to improve heart function after heart attacks and it could involve a drug extracted from plants commonly used in folk medicine.

The researchers, led byMatthew J. Wolf, MD, PhD, found that blocking a particular enzyme after heart attacks helped repair damage to the organ in lab mice. The research team did this by using a drug called harmine, which is found in certain plants, including Syrian rue, which has long been used for medicinal and ritual purposes.

Thats not to say that people should take harmine after heart attacksmuch more study is needed. But the researchers believe the underlying approach of blocking the enzyme offers a promising avenue for improving patient outcomes.

Our findings show that investigating the signals controlling normal heart growth can lead to new therapeutic targets to unlock cardiac regeneration, said Wolf, the co-director of UVA Healths cardiovascular genetics program. We hope our research can identify new adjuvant medications that can be added to standard care when someone has a heart attack. Our goals are to help improve heart function and reduce the chances of developing heart failure.

Undoing the Damage From Heart Attacks

The new finding emerges from efforts to prompt the body to replace damaged cells responsible for causing the heart to contract. In adults, the body rarely replaces these specialized cells, called cardiomyocytes. So scientists have been seeking ways to lift the natural brakes that prevent our bodies from manufacturing more of them.

The UVA researchers sought to do this by blocking an important enzyme, or kinase, calledDYRK1a. They took two approaches to this: In one, they shut down the gene activity responsible for producing the enzyme. In the other, they gave lab mice the drug harmine, which inhibits the function of the enzyme.

Both approaches had the desired result in mice, spurring the production of cardiomyocytes and improving the function of the hearts left ventricle. That suggests that doctors may be able to targetDYRK1a, either with harmine or by some other means, to improve patients outcomes after heart attacks. (Harmine, the researchers note, could have effects on multiple organs and, if given for too long, might cause cancer by fostering uncontrolled cell growth. So the scientists suggest additional research into alternatives to inhibit DYRK1a.)

Enhancing adult cardiomyocyte cell cycling after an injury is an attractive strategy to improve heart function after myocardial infarction. Therefore, we analyzed genes during normal heart development when cardiomyocytes stop dividing. The approach led to the hypothesis that DYRK1a kinase might serve as one potential signal controlling cardiomyocyte cycling and heart regeneration, Wolf said. We then used sophisticated transgenic mice we previously created to label cycling cardiomyocytes. We observed that harmine, an inhibitor of DYRK1a, increased myocyte cycling and improved heart function after myocardial infarctions [heart attacks].

Next, the scientists created mice to remove DYRK1a from cardiomyocytes. They found that the cells had increased expression of key genes and improved heart function after injury.

We are excited that our research will lead to new ways to enhance the treatment of cardiovascular disease,said Wolf, of UVAs Division of Cardiology and the Robert M. Berne Cardiovascular Research Center.

Findings Published

The researchers havepublished their findings in the scientific journal Circulation Research. The research team consisted ofAlexander Young, Leigh A. Bradley, Elizabeth Farrar, Helen O. Bilcheck, Svyatoslav Tkachenko, Jeffrey J. Saucerman, Stefan Bekiranov and Wolf.

The work was funded bythe National Institutes of Healths National Heart, Lung, And Blood Institute, grant R01HL158718, and bythe UVA Center of Excellence in Cardiovascular Genetics.

To keep up with the latest medical research news from UVA, subscribe to theMaking of Medicineblog at http://makingofmedicine.virginia.edu.

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Folk Medicine Discovery Could Lead to Better Heart Attack Outcomes - The Roanoke Star

A group of international researchers have identified a genetic mutation thats responsible for causing lupus.

Its the first time that a mutation on a specific gene has been linked to the autoimmune disease. While not all patients carry this mutation, the researchers believe that their discovery will help to find better treatments.

A paper describing the discovery is published in Nature.

Senior author Dr Vicki Athanasopoulos, a researcher at the Australian National Universitys John Curtin School of Medical Research, says that researchers have known that theres a genetic component for a while but its recent advances in genetic technology that have allowed them to make this breakthrough.

We know that the environment plays a big role, and hormones, and things like that. But from studies using identical twins, monozygotic twins, we know that there is a genetic component, says Athanasopoulos.

Theres been these databases, which contain genes that we think are associated with lupus. But this is the first time weve actually been able to prove that a particular gene, when its mutated, will cause lupus.

A lot of that is because of advances in technology where we can now generate mutations in the genomes of animals, for example or cell lines using whats called CRISPR-Cas9 technology.

The problematic gene itself codes for a protein called Toll-like receptor 7, or TLR7. It operates in the immune system, where it helps to sense RNA that comes from viruses.

The researchers examined a mutation in the TLR7 gene that was present in a seven-year-old girl with severe lupus.

When they used CRISPR to cause this mutation in mice, the mice also developed lupus-like symptoms.

Mice carrying the mutant TLR7 protein developed a condition that mimicked severe autoimmune disease in human patients, providing evidence that the TLR7 mutation causes lupus, says lead author Grant Brown, a PhD student at ANU.

This evidence, combined with other experiments on mutated TLR7 proteins, allowed the researchers to conclude that this gene was a culprit.

Theres more than one mutation on the TLR7 gene that might have this effect.

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We did have other lupus patients that had different mutations in the same gene, says Athanasoloulos.

We looked at some of those, and they seem to behave in a similar way, in that the mutation makes the protein overactive.

But they also found lupus patients who dont have a mutated TLR7 gene.

Thats what were trying to unravel: what is causing disease in those particular patients? says Athanasopoulos.

The TLR7 gene may also play a role in similar chronic conditions.

We strongly believe that TLR7 and the pathway that it acts in might actually be important in other autoimmune diseases, says Athanasopoulos.

We are looking to see how important this gene is in other autoimmune diseases. But we suspect that its going to play a role.

And the genetic mutation potentially explains why lupus is nine times more common in women than in men: the TLR7 gene sits on the X chromosome.

This means females with an overactive TLR7 gene can have two functioning copies, potentially doubling the harm, explains senior author Professor Carola Vinuesa, a researcher at ANU and the UKs Francis Crick Institute.

The researchers are hoping that their CRISPR-based mouse model can be used to test potential lupus treatments which target the TLR7 mutation.

This newly generated mouse model provides us with a framework to continue to understand the immune system and how autoimmune diseases develop in humans, says Brown.

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Genetic breakthrough could be the key that unlocks lupus - Cosmos

PlatformQs immersive educational experiences offer a proven way to drive meaningful outcomes for patient and provider education, said David Barrett, CEO of the American Society of Gene and Cell Therapy.

BOSTON (PRWEB) May 03, 2022

The American Society of Gene and Cell Therapy (ASGCT) has formed a strategic alliance with the digital technology and education company PlatformQ Health to deliver in-depth digital education programs for clinicians as well as patients and families. There are 3,483 gene, cell and RNA therapies in development, ranging from preclinical through pre-registration, bringing a wave of new clinical indications in the coming months and years. Therapeutic indications include oncology, neurology, rare diseases, metabolic diseases, ophthalmologic, immunological, and metabolic disorders. This will require a massive learning curve for clinicians to stay ahead of new therapeutic options for their patients.

ASGCTs strategic vision is to be a catalyst for bringing together scientists, physicians, patient advocates, and other stakeholders to transform the practice of medicine by incorporating the use of genetic and cellular therapies to alleviate human disease. PlatformQ Healths therapeutic focus on oncology, neurology and rare diseases aligns perfectly with ASGCTs core areas. Together, the companies will deliver continuing medical education for clinicians as well as educational programs for patients and their families.

This strategic partnership is crucial for helping providers and patients make the most of their understanding of emerging therapies, said PlatformQ Health CEO Robert Rosenbloom. It is extremely gratifying to partner with a deeply committed professional membership society such as the American Society of Gene & Cell Therapy to deliver education about life-altering new therapies.

PlatformQs immersive educational experiences offer a proven way to drive meaningful outcomes for patient and provider education, said David Barrett, CEO of the American Society of Gene and Cell Therapy. We are tremendously pleased to launch this partnership to deliver programs that will make a difference in the lives of so many people, from clinicians to caregivers to patients themselves.

About the American Society of Gene & Cell Therapy

The The American Society of Gene and Cell Therapy is the primary professional membership organization for gene and cell therapy. Its mission is to advance knowledge, awareness, and education leading to the discovery and clinical application of genetic and cellular therapies to alleviate human disease. The Societys members are scientists, physicians, patient advocates, and other professionals. Its members work in a wide range of settings including universities, hospitals, government agencies, foundations, and biotechnology and pharmaceutical companies.

About PlatformQ Health

PlatformQ Health is the leading provider of interactive digital medical education for clinicians, patients and caregivers. To improve patient care, PlatformQ Health creates video-first educational modules with premier partners, so learners can better understand conditions, available treatment options, and the latest research. The companys proprietary platform allows participants to engage in real-time discussion with scientific, research and patient care experts and the integrated learning solution enables advocates, administrators, health systems and plans, foundations, societies, member organizations and associations to measure the impact of their education.

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ASGCT Partners with PlatformQ Health to Bring Impactful, Timely Gene and Cell Therapy Digital Education to Providers and Patients - PR Web

Feeding the world is a humanitarian as well as a scientific venture that involvesthe aggregation of effort, starting with farmers and breedersthat involve policymakers and governments. The many-sided nature ofdifferent cultures or geographic systems, alongside changing needs, technological innovation, and environments, have made universal solutions for sustained food security difficult.

Although there are severalchallenges, so many opportunities are available to increase the productivity level and efficiency of current agricultural practices. One such powerful tool at our disposal is genomics. In medicine, genomics has a huge opportunity to make a genetic diagnosis of disease more efficient and cost-effective through thereduction of genetic testing to one analysis that guides humans all through life. Genomics studies the genome (all the information that a persons genes provide), which includes how those genes interactwith each other and the environment.It is an interdisciplinary field of biology that looks at the structure, function, evolution, mapping, andediting of genomes.

It is important to realize that genomics could make possible a new phase of tailored therapies, although with some barriers to the integration of such data into routine clinical care. In addition, available bioinformatics tools are considerably advanced to allow the rapid processing of raw sequence data into a ready-to-use form for severalpurposes. For instance, a high level of information regarding disease-causing bacteria can be derived with sequencing to reveal how harmful disease-causing agents can be characterized in food samples.

In genomics, one of the basictechnologies is sequencing, and we should expect just as much progressover the next decade like the last one, with the ability to sequence DNA anytime we want it and from differentsources on demand. A second area is Microscopy, which has progressed from having the eye as the primary data-capture tool along with human brains for decoding to diverse and sensitive photon or electron detectors working with sophisticated computational methods for possible remodeling and interpretation. The blend of both electrons (EM) technology and photons at different wavelengths and different collection modes can offer phenomenalresolution and widthoffield.

Moreover, deeplearning techniques that have driven so much innovation in tech,have also found great use in genomics, right from the analysis of images to theinterpreting of DNA sequences. The future is definitely brighter with all of these working together, and being utilized in different areas of life sciences, from fundamental basic science to applications in health, especially genomics.

In agriculture, genomics helps improve and design crops with higher resistance to factors that influence their growth such as pests, diseases, drought, frost, and floods among others. It also breedsdiseaseresistant, superior quality livestock and a healthier herd. Theimplications of the foregoing are diverse, especially because matters of food (insecurity) are a vital human security challenge. African countries haveexperienced numerous forms of conflicts and economic instability that could be associated with food insecurity and health. Deliberate studies to better understand such information could considerably improve results in the area of foodborne illness investigations.

Furthermore, precision medicine is one of the uses of genomics in the field of medicine that allows tailored information about a patients genetic makeup to decide on the specific type of treatment they require. Although some targeted therapies that lay emphasis on specific genomic data have already been utilized in medical practice (such as some targeted cancer therapies), the potential for this to expand into all other areas of medicine will be very significant. The precision medicine community and population health community would realize that they have a whole lot in common.

Conservationists have made use of the genomic sequencing data to evaluate key factors that are involved in the conversation of a species. For example, the genetic diversity of a population or the heterogeneity of an individual for a hereditary condition (with a recessive inheritance pattern) can be used to predict the health and conservation of the population. This data can also be useful in determining the effects of evolutionary processes and picking up genetic patterns of a specific population, including humans and animals. Insights into these patterns can help to devise plans to support the species and enable it to thrive into the future.

Although it was first applied in the food industry by plant biotechnologists to manipulate plant biosynthetic pathways, the use of genomic technologies has now spread within the agriculture sector, revealing a host of new applications (such as approaches for producing new, non-transgenic plant varietals; identification of genetic markers to guide plant and animal breeding programs; exploring diet-gene interactions for improving product quality and plantanimal health). For example, an overview of the complete DNA sequence of cultivated potatoes has the potential to greatly facilitate breeding, which has been an ambition of scientists and plant breeders alike for severalyears already. With gene information onhand, scientists can more easily identify gene variants responsible for what is desirable using data analysis.

Beyond agricultural production, genomic technologies are used to improve food processing, safety, and quality assurance as well as the development of functional food products, and the evolution of new health management concepts such as personalized nutrition this is an emerging area in which the diet of an individual is tailored, based on their genome configuration to drastically improve health and prevent disease.

The cost of genome sequencing has been greatly reduced, making genome-based technologies more affordable for wider adoption for strategic purposes as well as for routine monitoring. Food production facilities can use this option for smart sampling an investigative tool for pathogen detection, food source tracking, microbial profiling, determining the fate of spoilage during food processing, post sanitization, and general facility surveillance activities. Engaging these methods will allow the food processing facility to employ corrective actions to control or eliminate spoilage organisms by giving a greater understanding of how it enters the facility due to efficient monitoring.

Genomics is transforming the way wethink about healthcare. It provides us with a more detailed understanding of what causes illness and infectious diseases. It is assisting with the development of new interventions that we wouldnt have dared a decade ago. We are at a very important point in the history of genomic healthcare. This is because rapidly decreasing sequencing costs alongside increased computing power imply that we are able to compare and better understand the human genetic code. We are very well-positioned to make use of tech advancements in our understanding of genomics to respond quickly to evolving threats.

In conclusion, communication, behavioral, and social scientists should work together with genomic researchers and data scientists to engage withpractical and unbiased research questions that have relevance for individuals, communities, healthcare providers, and those in the public health and policy area. The use of genome editing in plants and livestock impliesthat the technology is able to contributeto the promotion of more environmentally sustainable agriculture. These could also help to end hunger and achieve food security. Further developments in increasing the sustainability of current food production practices are much needed in the face of challenges such as climate changes and population growth. Individual and organizational researchers cancollaborate with one another to access research funds, while they focus on efforts to unravel the complexities of the human and plant genome, identify the genomic underpinnings of human health, food safety, and disease, and ensure that genomics is applied responsibly to improve patient care and benefit society. I remain Yours in tech, Olufemi Ariyo email: [emailprotected]

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Genomics technology and the future of food security and human health - TheCable