Category Archives: Gene Medicine

Deep in the human brain, a very specific kind of cell dies during Parkinsons disease.

For the first time, researchers have sorted large numbers of human brain cells in the substantia nigra into 10 distinct types. Just one is especially vulnerable in Parkinsons disease, the team reports May 5 in Nature Neuroscience. The result could lead to a clearer view of how Parkinsons takes hold, and perhaps even ways to stop it.

The new research goes right to the core of the matter, says neuroscientist Raj Awatramani of Northwestern University Feinberg School of Medicine in Chicago. Pinpointing the brain cells that seem to be especially susceptible to the devastating disease is the strength of this paper, says Awatramani, who was not involved in the study.

Parkinsons disease steals peoples ability to move smoothly, leaving balance problems, tremors and rigidity. In the United States, nearly 1 million people are estimated to have Parkinsons. Scientists have known for decades that these symptoms come with the death of nerve cells in the substantia nigra. Neurons there churn out dopamine, a chemical signal involved in movement, among other jobs (SN: 9/7/17).

But those dopamine-making neurons are not all equally vulnerable in Parkinsons, it turns out.

This seemed like an opportunity to really clarify which kinds of cells are actually dying in Parkinsons disease, says Evan Macosko, a psychiatrist and neuroscientist at Massachusetts General Hospital in Boston and the Broad Institute of MIT and Harvard.

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The tricky part was that dopamine-making neurons in the substantia nigra are rare. In samples of postmortem brains, we couldnt survey enough of [the cells] to really get an answer, Macosko says. But Abdulraouf Abdulraouf, a researcher in Macoskos laboratory, led experiments that sorted these cells, figuring out a way to selectively pull the cells nuclei out from the rest of the cells present in the substantia nigra. That enrichment ultimately led to an abundance of nuclei to analyze.

By studying over 15,000 nuclei from the brains of eight formerly healthy people, the researchers further sorted dopamine-making cells in the substantia nigra into 10 distinct groups. Each of these cell groups was defined by a specific brain location and certain combinations of genes that were active.

When the researchers looked at substantia nigra neurons in the brains of people who died with either Parkinsons disease or the related Lewy body dementia, the team noticed something curious: One of these 10 cell types was drastically diminished.

These missing neurons were identified by their location in the lower part of the substantia nigra and an active AGTR1 gene, lab member Tushar Kamath and colleagues found. That gene was thought to serve simply as a good way to identify these cells, Macosko says; researchers dont know whether the gene has a role in these dopamine-making cells fate in people.

The new finding points to ways to perhaps counter the debilitating diseases. Scientists have been keen to replace the missing dopamine-making neurons in the brains of people with Parkinsons. The new study shows what those cells would need to look like, Awatramani says. If a particular subtype is more vulnerable in Parkinsons disease, maybe thats the one we should be trying to replace, he says.

In fact, Macosko says that stem cell scientists have already been in contact, eager to make these specific cells. We hope this is a guidepost, Macosko says.

The new study involved only a small number of human brains. Going forward, Macosko and his colleagues hope to study more brains, and more parts of those brains. We were able to get some pretty interesting insights with a relatively small number of people, he says. When we get to larger numbers of people with other kinds of diseases, I think were going to learn a lot.

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A very specific kind of brain cell dies off in people with Parkinson's - Science News Magazine

Gene Editing Tools Marketresearch is an intelligence report with meticulous efforts undertaken to study the right and valuable information. The data which has been looked upon is done considering both, the existing top players and the upcoming competitors. Business strategies of the key players and the new entering market industries are studied in detail. Well explained SWOT analysis, revenue share and contact information are shared in this report analysis. It also provides market information in terms of development and its capacities.

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Gene Editing Tools Market by 2029 Thermofisher Scientific, CRISPR Therapeutics, Editas Medicine Queen Anne and Mangolia News - Queen Anne and...

While scientists know that sleep deprivation has a negative effect on the body, they are still researching how it affects different organs.

Researchers from China and the U.S. recently published a study in Stem Cell Reports on how poor sleep can affect the eyes. They found that sleep deprivation can affect both stem cells in the cornea and the tear film surface of the cornea.

Getting a good nights sleep on a regular basis is important, but according to the Centers for Disease Control and Prevention (CDC), more than one-third of adults dont get enough sleep. Doctors recommend that adults get at least 7 hours of sleep per night.

The CDC reports that not getting enough sleep can cause a myriad of health issues, such as having a higher risk for obesity, developing diabetes, and high blood pressure.

Part of the issue contributing to so many people not getting enough rest is having a sleep disorder. The National Institutes of Health reports that around 40 million Americans have a sleep disorder.

Some sleep disorders include:

For those who are not affected by a sleep disorder, the best way to regularly get enough sleep is to practice good sleep hygiene. People can accomplish this by going to bed at the same time every night, avoiding screens 1-2 hours before bed, and not drinking alcohol before bed.

The researchers in this study used mice to learn more about how sleep deprivation affects the eyes.

According to the authors, the cornea is the clear front surface of the eye. They also write that the cornea has an overlying tear film that helps keep the eyes comfortable and offers protection against infection.

The researchers were interested to find out to what degree sleep deprivation may affect stem cells in the cornea.

As Dr. Neil Neimark, a board certified family physician in functional medicine who applies stem cell therapy in his practice, noted in a TEDx Talks podcast, stem cells have healing power and all tissue repair in the body is initiated by stem cells.

The researchers of the current study assessed gene expression in the mice after 2 days of sleep deprivation and then after 10 days of sleep deprivation.

At the 2-day point, the researchers found that 287 genes were significantly upregulated and 88 were downregulated in corneas. At the 10-day point, they saw 272 significantly upregulated genes and 150 downregulated genes.

The authors tested the mice after 1 and 2 months of further sleep deprivation and found that the transparency of the cornea was reduced and the ocular surface was rough.

While stem cells were upregulated in the sleep-deprived mice early on, it eventually led to what the authors referred to as an early manifestation of limbal stem cell deficiency. After being upregulated for so long, the stem cells became depleted.

Short-term consequences of insufficient sleep or delayed sleep cause ocular discomfort, including dryness, pain, pruritus, and hyperemia of the eye, the authors note.

Despite these issues, the authors observed that treating the mice with damaged corneas with eye drops containing antioxidants helped restore the eye health of the mice.

Dr. Howard R. Krauss, a surgical neuro-ophthalmologist and director of Neuro-Ophthalmology for the Pacific Neuroscience Institute at Providence Saint Johns Health Center in Santa Monica, CA, who was not involved in the study, spoke to Medical News Today about the findings.

The design of the study was to study chemical and cellular changes in the ocular surface of sleep-deprived mice, revealing indeed that there are damaging effects, which shed light on mechanisms which may be at play in human symptoms and disease, Dr. Krauss said.

While Dr. Krauss thought the study was helpful at showing how sleep deprivation can potentially affect humans, he noted a limitation.

A weakness of the study is the methodology by which sleep deprivation is induced in mice, who are in cages, perched on sticks to remain above a water-filled bottom when the mouse falls asleep, it falls into the water, immediately wakes up, and climbs back up onto the stick, Dr. Krauss explained.

Dr. Krauss said the method used to induce sleep deprivation raises the question of how much of the chemical and cellular change they observed was purely secondary to sleep deprivation and how much may be a stress reaction to the means by which sleep deprivation has been engineered.

Nonetheless, the study refocuses our attention on sleep deprivation and leads us to think that the scope of damaging effects of sleep deprivation may be far [broader] than we realize, he said.

As such, the human need for sleep for maintenance of good health becomes more obvious every day. Dr. Howard R. Krauss

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Sleep deprivation may increase the risk of eye disease - Medical News Today

NEW YORK and MIAMI, May 3, 2022 /PRNewswire/ --The Parkinson's Foundationhas announced the expansion of PD GENEration: Mapping the Future of Parkinson's Disease, a first-of-its-kind national initiative offering genetic testing and counseling for people with Parkinson's disease (PD) at no cost. The study has expanded to 23 actively enrolling participant sites while still offering at-home testing as part of the Foundation's commitment to reach new populations.

The goal of PD GENEration is to improve PD care by accelerating and supporting research to advance improved treatments and personalized medicine. The study aims to help people with PD and their physicians identify whether they qualify for enrollment in certain clinical trials based on their results. Currently at 23% of its 15,000-participant goal, the study's participants are enrolled from all 50 U.S. states, Puerto Rico and the Dominican Republic.

"For nearly two decades, PD genetic research boomed, but testing was often done in research rather than clinical settings, and results were not shared with participants. In contrast, in PD GENEration, we aim to make testing accessible to all who live with PD, irrespective of their geographic location, primary language or any other barriers which would have previously excluded them from participating in research," said Roy Alcalay, MD, MS, PD GENEration Principal Investigator.

PD GENEration is working to expand its reach with the addition of new testing sites and by collaborating with clinicians in historically excluded communities. This includes a partnership with Morehouse School of Medicine, aiming to make the study more accessible for Black and African American persons in Atlanta. The study also extensively engages Hispanic and Latino persons and provides genetic testing and counseling in English and Spanish.

"Increasing access to PD GENEration helps ensure that anyone living with PD can participate and have easy access to their genetic data," said Chantale Branson, MD, Assistant Professor of Neurology at Morehouse School of Medicine. "We want to encourage community members to take part in the study while letting them know that their experiences are impacting the advancement of research and development of targeted therapies for the entire Parkinson's community."

To meet the broader needs of the research community, the Foundation formed the Parkinson's Disease Gene Curation Expert Panel(GCEP), within the NIH-funded Clinical Genome (ClinGen) Resource. The Parkinson's Disease GCEP is the first-ever genetics working group focused on neurodegenerative diseases. Under the Foundation's leadership, the panel has convened more than 50 of the world's leading researchers, geneticists, neurologists and genetic counselors dedicated to analyzing PD GENEration and other genetic data to build centralized resources that define clinically relevant genes linked to PD all in hopes of accelerating breakthrough discoveries.

All work done by this panel will help to determine which genes are important for PD which, in turn, helps guide drug approvals and inform drug companies to prioritize specific genetic targets. Future work will evolve to include curation of Parkinson's gene mutations, which will be significant given that the U.S Food and Drug Administration (FDA) has recognized ClinGen's processes for variant interpretation. All work will be published and openly available as resources for researchers, clinicians and PD community members to promote a better understanding of the disease.

To learn more about PD GENEration, visit Parkinson.org/PDGENErationor call 1-800-4PD-INFO (473-4636). For questions about enrollment, email [emailprotected].

About the Parkinson's FoundationThe Parkinson's Foundation makes life better for people with Parkinson's disease by improving care and advancing research toward a cure. In everything we do, we build on the energy, experience and passion of our global Parkinson's community. Since 1957, the Parkinson's Foundation has invested more than $400 million in Parkinson's research and clinical care. Connect with us on Parkinson.org, Facebook, Twitter, Instagramor call (800) 4PD-INFO (473-4636).

About Parkinson's DiseaseAffecting an estimated one million Americans and 10 million worldwide, Parkinson's disease is the second-most common neurodegenerative disease after Alzheimer's and is the 14th-leading cause of death in the U.S. It is associated with a progressive loss of motor control (e.g., shaking or tremor at rest and lack of facial expression), as well as non-motor symptoms (e.g., depression and anxiety). There is no cure for Parkinson's and 60,000 new cases are diagnosed each year in the U.S. alone.

SOURCE Parkinson's Foundation

Link:
Parkinson's Foundation Announces Major Expansion of PD GENEration Study, Increasing Access to Genetic Testing and Counseling Across the US - PR...

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.

Continued here:
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