Category Archives: Genetic medicine

The human genome consists of more than 6 billion letters. Each person has a unique configuration of A, C, G, and T the molecular building blocks that make up DNA. Determining the sequence of all these letters used to require a huge amount of money, time, and effort. Thousands of researchers worked on the Human Genome project for 13 years. Its value is $2.7 billion.

In 1990, this project ushered in the era of genomics helping scientists unravel the genetic factors of cancer and many hereditary diseases, as well as has stimulated the development of home DNA tests. Next, researchers began to sequence more genomes: animals, plants, bacteria, and viruses. Ten years ago, sequencing a human genome cost researchers about $10,000. A few years ago, that price dropped to $1,000. Today, its about $600. And from now on, sequencing will become even cheaper.

At the branch event in San Diego, a genomics giant Illumina company introduced what it calls its fastest and most efficient sequencing machines, the NovaSeq X series.

The company, which controls about 80% of the global DNA sequencing market, believes that its new technology will reduce the cost to $200 per human genome while providing twice the reading speed.

Francis deSouza, CEO of Illumina says that a more powerful model will be able to sequence 20,000 genomes per year; the companys current equipment can sequence about 7,500 genomes. Illumina will start selling the new instruments today and ship them next year.

As we look to the next decade, we believe were entering the era of genomic medicine going mainstream. To do that requires the next generation of sequencers, deSouza says. We need price points to keep coming down to make genomic medicine and genomic tests available much more broadly.

Sequencing has led to genetically targeted drugs, blood tests that can detect cancer in its early stages, and diagnostics for people with rare diseases. We can thank sequencing for vaccines against Covid-19, which scientists began developing in January 2020, as soon as the first sample of the viruss genome was created.

In research laboratories, this technology has become indispensable for a better understanding of pathogens and human evolution. But in medicine, it is still not used everywhere, which is partially connected to the price. While sequencing costs about $600 for scientists, clinical interpretation and genetic counseling can bring the price to several thousand dollars for patients.

Another reason is that for healthy people, there is insufficient evidence that genome sequencing will be worth the money spent. Now the test is mainly used by people with certain types of cancer or undiagnosed diseases. Although in two recent studies, about 12-15% of healthy people whose genomes were sequenced ended up having a genetic variation that put them at increased risk for a disease that could be cured or prevented, indicating that sequencing could provide early prevention of diseases.

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NovaSeq X machines will make genetic analysis even faster and cheaper - Mezha.Media

MADRID, Spain and BOSTON, Oct. 03, 2022 (GLOBE NEWSWIRE) -- ORYZON Genomics, S.A. (ISIN Code: ES0167733015, ORY), a clinical-stage biopharmaceutical company leveraging epigenetics to develop therapies in diseases with strong unmet medical need, announced today that its management will give an update on corporate progress at several international events in October.

Oryzon will participate at the Chardan's 6th Annual Genetic Medicines Conference, which will be held on October 3-4 in New York (USA). The company will hold one-to-one meetings with pharmaceutical companies and global investors. Click on link for more info about the Chardan's 6th Annual Genetic Medicines Conference

Oryzon will participate at the MSD European Business Development Outreach, which will be held on October 5 in Zurich (Switzerland). The company will hold one-to-one meetings with pharmaceutical companies and global investors.

Oryzon will participate at the Iberian Digital Forum on October 6-7, where the company will hold one-to-one meetings with national investors.

Oryzon will participate at the AACR Special Conference: Cancer Epigenomics in Washington (USA) on October 6-8, where the company will present a poster communication entitled: ASCL1 and SOX2 expression levels predict sensitivity to LSD1 inhibition with iadademstat in small cell lung cancer on October 7 at 18:00 ET. Click on link for more info about the AACR Special Conference: Cancer Epigenomics

Oryzon has been invited to the European Brain Council (EBC)s annual European congress, Brain Innovation Days, which will be held on October 11-12 in Brussels (Belgium). The company will take part in a panel discussion entitled Innovative Funding Models, taking place on October 12 at 14:35 CEST. Click on link for more info about the Brain Innovation Days

Oryzon has been invited to the HealthTech Innovation Days, which will be held on October 13-14 in Paris (France). The company will participate at a round table devoted to age-related diseases on October 13 at 11:00 CEST. Click on link for more info about the HealthTech Innovation Days

Oryzon will attend BIO-Europe 2022, which will be held in Leipzig (Germany) and virtually on October 24-26, where the company will provide a corporate update and will also hold one-to-one meetings with pharmaceutical companies and global investors. Click on link for more info about BIO-Europe 2022

Finally, Oryzon will participate at the 34th EORTC-NCI-AACR Symposium, which will be held on October 26-28 in Barcelona (Spain). The company will present two poster communications entitled Iadademstat effects on neuroendocrine, inflamed and mesenchymal gene expression patterns in small cell lung cancer subtypesand Iadademstat and gilteritinib synergistically abrogate viability of both treatment-nave and drug-resistant AML cellson October 27. Click on link for more info about the 34th EORTC-NCI-AACR Symposium

About OryzonFounded in 2000 in Barcelona, Spain, Oryzon (ISIN Code: ES0167733015) is a clinical stage biopharmaceutical company considered as the European leader in epigenetics. Oryzon has one of the strongest portfolios in the field, with two LSD1 inhibitors, iadademstat and vafidemstat, in Phase II clinical trials, and other pipeline assets directed against other epigenetic targets. In addition, Oryzon has a strong platform for biomarker identification and target validation for a variety of malignant and neurological diseases. For more information, visit http://www.oryzon.com

About Iadademstat Iadademstat (ORY-1001) is a small oral molecule, which acts as a highly selective inhibitor of the epigenetic enzyme LSD1 and has a powerful differentiating effect in hematologic cancers (see Maes et al., Cancer Cell 2018 Mar 12; 33 (3): 495-511.e12.doi: 10.1016 / j.ccell.2018.02.002.). A FiM Phase I/IIa clinical trial with iadademstat in R/R AML patients demonstrated the safety and good tolerability of the drug and preliminary signs of antileukemic activity, including a CRi (see Salamero et al, J Clin Oncol, 2020, 38(36): 4260-4273. doi: 10.1200/JCO.19.03250). In an ongoing, fully-accrued Phase IIa trial in elder 1L-AML patients (ALICE trial), iadademstat has shown encouraging safety and efficacy data in combination with azacitidine (see Salamero et al., EHA 2022 poster). The company has obtained approval from the U.S. FDA for its IND for FRIDA, a Phase Ib trial of iadademstat plus gilteritinib in patients with relapsed/refractory AML with FLT3 mutations. Beyond hematological cancers, the inhibition of LSD1 has been proposed as a valid therapeutic approach in some solid tumors such as small cell lung cancer (SCLC), neuroendocrine tumors (NET), medulloblastoma and others. In a Phase IIa trial in combination with platinum/etoposide in second line ED-SCLC patients (CLEPSIDRA trial), preliminary activity and safety results have been reported (see Navarro et al., ESMO 2018 poster). New trials in combination in SCLC and NET are under preparation. Oryzon has recently entered into a Cooperative Research and Development Agreement (CRADA) with the U.S. National Cancer Institute (NCI) to collaborate on potential further clinical development of iadademstat in different types of solid and hematological cancers. In total iadademstat has been dosed so far to more than 100 cancer patients in four clinical trials. Iadademstat has orphan drug designation for SCLC in the US and for AML in the US and EU.

About Vafidemstat Vafidemstat (ORY-2001) is an oral, CNS optimized LSD1 inhibitor. The molecule acts on several levels: it reduces cognitive impairment, including memory loss and neuroinflammation, and at the same time has neuroprotective effects. In animal studies vafidemstat not only restores memory but reduces the exacerbated aggressiveness of SAMP8 mice, a model for accelerated aging and Alzheimers disease (AD), to normal levels and also reduces social avoidance and enhances sociability in murine models. In addition, vafidemstat exhibits fast, strong and durable efficacy in several preclinical models of multiple sclerosis (MS). Oryzon has performed two Phase IIa clinical trials in aggressiveness in patients with different psychiatric disorders (REIMAGINE) and in aggressive/agitated patients with moderate or severe AD (REIMAGINE-AD), with positive clinical results reported in both. Additional finalized Phase IIa clinical trials with vafidemstat include the ETHERAL trial in patients with Mild to Moderate AD, where a significant reduction of the inflammatory biomarker YKL40 has been observed after 6 and 12 months of treatment, and the pilot, small scale SATEEN trial in Relapse-Remitting and Secondary Progressive MS, where antiinflammatory activity has also been observed. Vafidemstat has also been tested in a Phase II in severe Covid-19 patients (ESCAPE) assessing the capability of the drug to prevent ARDS, one of the most severe complications of the viral infection, where it showed significant anti-inflammatory effects in severe Covid-19 patients. Currently, vafidemstat is in two Phase IIb trials in borderline personality disorder (PORTICO) and in schizophrenia patients (EVOLUTION). The company is also deploying a CNS precision medicine approach with vafidemstat in genetically-defined patient subpopulations of certain CNS disorders and is preparing a clinical trial in Kabuki Syndrome patients. The company is also exploring the clinical development of vafidemstat in other neurodevelopmental syndromes.

FORWARD-LOOKING STATEMENTSThis communication contains, or may contain, forward-looking information and statements about Oryzon, including financial projections and estimates and their underlying assumptions, statements regarding plans, objectives and expectations with respect to future operations, capital expenditures, synergies, products and services, and statements regarding future performance. Forward-looking statements are statements that are not historical facts and are generally identified by the words expects, anticipates, believes, intends, estimates and similar expressions. Although Oryzon believes that the expectations reflected in such forward-looking statements are reasonable, investors and holders of Oryzon shares are cautioned that forward-looking information and statements are subject to various risks and uncertainties, many of which are difficult to predict and generally beyond the control of Oryzon that could cause actual results and developments to differ materially from those expressed in, or implied or projected by, the forward-looking information and statements. These risks and uncertainties include those discussed or identified in the documents sent by Oryzon to the Spanish Comisin Nacional del Mercado de Valores (CNMV), which are accessible to the public. Forward-looking statements are not guarantees of future performance and have not been reviewed by the auditors of Oryzon. You are cautioned not to place undue reliance on the forward-looking statements, which speak only as of the date they were made. All subsequent oral or written forward-looking statements attributable to Oryzon or any of its members, directors, officers, employees or any persons acting on its behalf are expressly qualified in their entirety by the cautionary statement above. All forward-looking statements included herein are based on information available to Oryzon on the date hereof. Except as required by applicable law, Oryzon does not undertake any obligation to publicly update or revise any forwardlooking statements, whether as a result of new information, future events or otherwise. This press release is not an offer of securities for sale in the United States or any other jurisdiction. Oryzons securities may not be offered or sold in the United States absent registration or an exemption from registration. Any public offering of Oryzons securities to be made in the United States will be made by means of a prospectus that may be obtained from Oryzon or the selling security holder, as applicable, that will contain detailed information about Oryzon and management, as well as financial statements.

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ORYZON to Give Updates on Corporate Progress in October - BioSpace

LONDON, Sept. 30, 2022 /PRNewswire/ --e-Therapeutics plc(AIM: ETX) (OTC-QX: ETXPF), a company integrating computational power and biological data to discover life-transforming RNAi medicines, is pleased to announce a fundraise of 13.5 million before expenses by way of a subscription for new ordinary shares of 0.1p each ("Ordinary Shares") in the Company (the "Subscription") at a price of 20p per Ordinary Share by funds managed by M&G Investment Management Limited ("M&G"), an institutional investor and an existing shareholder of the Company.

The fundraise provides ETX with the opportunity to generate value and accelerate the next stage of its growth, advancing the Company's position in creating an entirely new template for drug discovery using computation to capture and model disease complexity, identify novel targets and design RNAi drugs against those targets that can be rapidly progressed to the clinic.

The net proceeds of the Subscription will be used to facilitate a number of initiatives to accelerate growth, with a focus on expanding the Company's in-house pipeline of first-in-class RNAi candidatesderived from ETX's computational platform; further developing cell type-specific computational tools and datasets; and general working capital including additional headcount.

Ali Mortazavi, Chief Executive Officer of e-therapeutics, commented:

"I am pleased to announce the fundraise of 13.5 million and excited by the prospect of being able to accelerate the development of our in-house RNAi pipeline through enhanced investment in our therapeutic programmes, hepatocyte datasets and computational capabilities. This successful fundraise underlines ETX's position at the intersection of computational approaches to drug discovery and genetic medicine, using RNA interference as our drug modality of choice. We are grateful for the support of our shareholders and look forward to delivering value from our platform technologies."

Michael Stiasny, Head of UK Equities at M&G Investments, commented:

"With the potential to re-shape the conventional drug discovery model, siRNA based therapies represent an extremely exciting new modality in medicine. We believe that e-therapeutics has a unique platform and strategically attractive IP in this space, combined with a strong computational edge, and are delighted to be increasing our long-term support for the Company."

The issue of new Ordinary Shares pursuant to the Subscription will be conditional on (i) the 67,500,000 shares ("Subscription Shares") being admitted to trading on AIM by not later than 8.00 a.m. on 6 October 2022, or such later time and/or date as the Company may agree (being not later than 8.00 a.m. on 14 October 2022) and (ii) the representations and warranties of the Company under the Subscription being true and accurate.

Highlights of the Fundraise

Company Overview

The latest information on the Company and its recent progress is included in its Interim Report for the 6 months to 31 July 2022 which is also being announced today.

ETX is a UK-based company integrating computational power and biology information to discover life-transforming RNAi medicines.The Company's technology uses computation tocapture and model human biology, identify novel targets and design RNAi medicines against those targets that can be rapidly progressed to the clinic.

ETX's proprietary Computational Biology Platform enables the generation and analysis of biological network models, providinga novel and mechanistic approach to drug discovery that explicitly considers the true complexity of biology and makes more reliable predictions from large complex data sets and ETX's proprietary hepatocyte knowledge base, - the world's most comprehensive and integrated hepatocyte-centric data and information resource. The Company generates, prioritises and tests millions of hypotheses in silico to identify better therapeutic targets with higher confidence.

ETX's proprietary RNAi Platform enables the targeted delivery to hepatocytes in the liver and the specific silencing of novel disease-associated genes, identified by ETX's Computational Biology Platform. The focus on hepatocytes offers the opportunity to work across a wide variety of diseases. The liver is a highly metabolically active organ which performs a key role in many biological processes and vital functions crucial for human health. ETX's GalNAc-siRNA constructs have demonstratedcompelling in vivo performance in terms of depth of gene silencing and duration of action.

ETXis progressing apipeline of first-in-class pre-clinical RNAi candidates in several therapeutic areas including haematology, cardiovascular disease andnon-alcoholic steatohepatitis ("NASH"). ETX has also partnered with biopharma companies such asNovo Nordisk, Galapagos NV and iTeos Therapeuticsusing its computational network biology approach across a diverse range of drug discovery projects.

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e-therapeutics: Fundraise of 13.5 million - BioSpace

Max Jarmey, 27, took part in our latest Live & Ticking event alongside his cardiologist, BHF Professor Hugh Watkins. Professor Watkins spoke about the 30 million research project hes leading, which aims to find a cure for genetic cardiomyopathies. Max talked poignantly about the loss of his dad and the hope this research has injected into his future.

Max Jarmey inherited his dads calm demeanour and reflective nature. He also inherited from him a serious heart condition. But the full extent of this less visible inheritance a type of genetic cardiomyopathy would remain hidden to Max until his dad tragically died aged just 53.

Growing up we knew dad had some heart problems, says Max, but he never told us exactly what it was.

Max has since learnt that his dad, Chris, realised something was wrong when he experienced an arrhythmia a potentially dangerous abnormal heart rhythm when he was 40. Max was a baby at the time.

This scare led to Chris being diagnosed with arrhythmogenic right ventricular cardiomyopathy, or ARVC. If one of your parents has a faulty gene linked to this heart muscle disease, theres a 50 per cent chance it will pass down to you.

Around this time, Chris, who was always very health and diet conscious, stopped running and playing competitive sports. But Max says he never really noticed anything different about his dad.

He was always such a calm and level-headed person, and I understand now that after his diagnosis he focused on what he could do, like yoga and lots of walking, rather than what he couldnt.

Chris also continued doing what he loved for a living. He taught Shiatsu, a type of massage based on traditional Chinese medicine, as well as a meditative kind of Tai Chi, a form of shadowboxing.

He wrote lots of books on these techniques and was very knowledgeable about Chinese medicine, says Max. He also set up the European Shiatsu School that brought the practice to the west.

It all changed, though, on a Sunday afternoon in 2008 when Chris suffered a sudden cardiac arrest, brought on by his ARVC. Max was 13.

Dad had always been a big influence on me, and it was really tough because suddenly I didnt have that father figure to draw on their experience and learn from.

Chriss death set in motion a series of medical tests and screenings over the next five years that ultimately led to Maxs own diagnosis of ARVC.

At 18, his life was upended again.

Max was now one of the 260,000 people in the UK living with an inherited heart muscle disease. Globally, its estimated one in 250 people live with such a condition.

He recalls leaving the hospital after getting the news, sitting in the car with his mum in the carpark when he broke down.

It was dawning on him that, at this age when most of us are finding our place in the world, if he was to try to slow the progression of the disease he would have to give up so many things he loved.

By this stage Max had become an accomplished mountain biker and hockey player. But strenuous sports and activity can often exacerbate the condition or, in some cases, lead to a sudden cardiac arrest.

He also started googling and researching the condition after he was diagnosed. This terrified him.

However, his cardiologist Hugh Watkins, also a British Heart Foundation professor, gently conveyed to Max the precautionary measures needed in order to manage the condition. Professor Watkins words and guidance offered Max some peace of mind amidst his inner turmoil.

Shortly after his diagnosis Max had an ICD fitted a mini defibrillator placed under the skin that shocks your heart back into a normal rhythm if it detects a dangerous abnormal heart rhythm.

His younger brother Tom was also found to have the condition. But his older brother and sister, from their screenings, dont show any signs of it. Genetic testing confirmed that only Max and Tom had inherited the genetic spelling mistake from their dad.

Over the years, Max and Tom have both been shocked by their ICDs many times. Its a painful reminder of how serious their condition is and, indeed, how crucial and lifesaving the little device under their skin is.

Recently, Max heard about another possible lifesaver CureHeart. Its the most ambitious BHF research project in the history of the charity.

Professor Hugh Watkins and his renowned international team have been awarded 30 million their aim is to find a cure for inherited heart muscle diseases such as the condition Max lives with, and the condition that stole his dads life.

The CureHeart team won the award after a rigorous global competition, the BHFs Big Beat Challenge. The best scientists and researchers from across the globe were invited to lay out what they believed to be the next transformational leap in cardiovascular research. And CureHeart won the day.

Its pioneering approach will use ultra-precise gene therapy technologies that could edit or silence the faulty genes that cause these deadly conditions. Put simply, the team endeavour to correct the spelling mistakes found in these faulty genes.

This is our once-in-generation opportunity to relieve families of the constant worry of sudden death, heart failure and potential need for a heart transplant, says Professor Watkins.

The 30 million from the BHF will give us the platform to turbo-charge our progress in finding a cure so the next generation of children diagnosed with genetic cardiomyopathies can live long, happy and productive lives.

Within years, its possible that a simple injection given to someone living with ARVC or another type of inherited heart muscle disease will cure them of the condition.

For Max who now works as a product manager for a financial services firm and is in a loving relationship worry and fear has given way to a sense of optimism.

When I think about my future, the decision to have children and their future, CureHeart could make that decision easier. My children might never have to suffer like I have with this condition. This project gives me hope. Thats what the BHF is funding hope.

Beyond everything else, though, May says: All I really want to do is live a normal life and just go for a run.

LEARN MORE FROM PROFESSOR HUGH WATKINS AND MAX JARMEY

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The inheritance of hope curing genetic heart disease now within grasp - British Heart Foundation

Curriculum overview

Our programs curricular goals are to teach our students to:

Our curriculum achieves these goals by providing our students with an integrated student-centered curriculum that incorporates evolving technology in the learning environment. In recognition of the varied opportunities for genetic counselors in todays medical climate, friends of our program include genetic counselors and other health care providers working in industry, practicing telehealth, serving in community and academic settings and making an impact on public policy.

Our course work, thesis component and clinical experiences provide students with a variety of methods to develop the core skills necessary to become highly competent genetic counselors wholl go on to practice in diverse settings. To ensure our graduate program continues to provide the training necessary to meet the demands required of practicing genetic counselors, our faculty, clinical supervisors and advisory board regularly assess our rapidly changing profession and adjust the curriculum accordingly.

Students who enroll in the Ohio State Genetic Counseling Graduate Program are taught by world-renowned professionals from The Ohio State University College of Medicine and Nationwide Childrens Hospital, as well as by other regionally and nationally known clinicians and collaborators. Our fieldwork supervisors and faculty include national leaders in professional organizations. Our students work alongside the very individuals who are helping to shape our field, so you learn the importance of leadership by example.

The Ohio State Genetic Counseling Graduate Program is accredited by the Accreditation Council for Genetic Counseling (ACGC), located at 7918 Jones Branch Drive, Suite 300, McLean, VA 22102. ACGC can be reached at 703-506-3266 or via its website. In 2018, our program underwent re-accreditation and received full accreditation through 2024.

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MS Genetic Counseling | Ohio State College of Medicine

What does a genetic counselor do?

Genetic counselors are health care professionals who have specialized education and training in the field of medical genetics. Using family history, a genetic counselor will assess individual or family risk of an inherited condition, such as a genetic disorder or a birth defect.

Genetic counselors educate patients and professionals about genetic diseases and genetic testing options. They also advise patients on the social and ethical issues associated with a genetic disorder or genetic test result, and help patients cope with a diagnosis of a genetic disease.

As members of the health care team, genetic counselors serve as educators to patients, physicians, other health care providers, and society. In a typical day, genetic counselors:

Genetic counselors might choose to specialize in a particular area or they may provide general care. Some areas they might specialize in include:

Employers of genetic counselors include hospitals, universities, private practices, labs, and a variety of clinical settings. Forty-hour work weeks are typical for genetic counselors and they generally are not required to work evenings or weekends.

Genetic counseling is a great career path for someone that is interested in a rewarding career with a high degree of patient interaction. Due to the limited number of accredited genetic counseling programs, it is recommended that individuals interested in genetic counseling prepare for a highly selective admission process with high school and undergraduate classes in chemistry, biology, genetics, and psychology. Prior experience either through paid work or volunteer experience is recommended (and may be required) when enrolling in the graduate program.

Common highereducation requirements for a genetic counselor include:

To become certified as a genetic counselor, you must complete an accredited masters program in genetic counseling. This program is typically two years in length and includes courses such as molecular genetics, counseling ethics, and research methods; as well as clinical training experience and a research project. After completing the program, students must take and pass a certification exam in order to become a certified genetic counselor.

Genetic counselors typically earn around $80,150 a year. The annual salary depends on their position, level of expertise, and area of the U.S. or world where they practice.

Job growth for genetic counselors in the U.S. is expected to grow much faster than average, according to the Bureau of Labor Statistics. The emphasis on personalized medicine and ongoing technological innovations will increase the demand for genetic counselors who can translate complex medical and scientific information for families and other health professionals.

In terms of career advancement, some genetic counselors become professors, and others find opportunities to conduct and publish research.

Mayo Clinic offers three internships to prepare students for a career as a genetic counselor:

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Genetic Counselor - Mayo Clinic College of Medicine & Science

Newswise Dr. Daniel Geschwind, the Gordon and Virginia MacDonald Distinguished Professor of Human Genetics, Neurology and Psychiatry at UCLA, was awarded the National Academy of Medicines (NAM) 2022 Rhoda and Bernard Sarnat International Prize in Mental Health in recognition of his pioneering research and leadership in autism genetics.

The Sarnat Prize, which includes a medal and a $20,000 prize, is NAMs highest honor related to the brain and mental health. Geschwind, who was elected to the elite panel in 2011, will receive the award at NAMs annual meeting on Oct. 16.

In its award announcement, NAM credited Geschwind with shaping the modern era of research in autism genetics by helping to create and lead the Autism Genetic Resource Exchange (AGRE) with the Cure Autism Now foundation, the first open-access resource for research on autism spectrum disorder (ASD) that was relied on by scientists around the world. The repository of clinical and genetic information, founded in 1997, has led to discoveries in autism genetics, including the role of rare mutations and inherited variation, and created a model for how scientists can work collaboratively to accelerate research in psychiatric genetics.

The NAM award also recognizes Geschwind, the director of the UCLA Center for Autism Research and Treatment, for his laboratorys highly influential research that has shaped our understanding of autism. His work has focused on translating genetic findings to biological understanding broadly across brain disorders. In ASD, this includes his formulation of the disorder as a developmental disconnection syndrome. He pioneered the study of language and social endophenotypes in genetic studies and demonstrated how transcriptomic and epigenetic profiling could be used to define the molecular pathology in ASD brain and other neuropsychiatric disorders. These latter studies have provided a roadmap for understanding the pathophysiology of neuropsychiatric disorders more broadly. Geschwind over the last decade has also sought to boost inclusion of underrepresented groups in autism research, which includes leading the only study of autism genetics in African Americans.

Dr. Geschwinds pioneering work has shown how research can help us meet the challenge of neurologic and psychiatric disorders by identifying how they may be genetically driven, and his creation of AGRE demonstrated the power of community resources to expand these important research efforts, said National Academy of Medicine President Victor J. Dzau. His transformational work including his efforts to make research on ASD more inclusive makes him highly deserving of this recognition.

This award is a testament to the environment at UCLA that has supported my laboratorys efforts all of these years and the students and post-docs that have been involved in driving this work forward, Geschwind said.

The Sarnat Prize, awarded annually since 1992, recognizes individuals or groups that have demonstrated outstanding achievement in improving mental health. The most recent recipient from UCLA was Dr. Kenneth Wells, a professor of psychiatry and biobehavioral sciences at the David Geffen School of Medicine, who in 2018 was honored for his work improving mental health in underserved communities.

The Sarnat Prize is the second major recent award for Geschwind after he received the American Academy of Neurologys top honor for research, the Cotzias Award, in the spring.

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UCLA researcher awarded National Academy of Medicine prize for work on genetics of autism - Newswise

New advances in medical research and technology are helping the field of precision medicine evolve in many ways. One new study highlights the ways genetic testing and profiling can be extended to help diagnose and treat a variety of conditionseven rashes.

For years, diagnosis and treatment of diseases like breast cancer have benefitted from precise genetic profiling. When the same science is applied to skin cells, the result could be a more definitive way to identifyand eventually treatunusual rashes and skin conditions.

The study, published in Science Immunology, was led by a team at the University of California, San Franciscothe same institution that has pioneered an online diagnostic tool called RashX to help dermatology clinicians diagnose traditionally difficult-to-categorize skin rashes with the submission of genetic data from their difficult cases.

RashX uses the same technology outlined in the study. Raymond Cho, MD, PhD, a UCSF dermatologist and geneticist and co-author of the report says traditionally, skin rashes are diagnosed with visual inspection or even a biopsy. Newer technology borrowed in part from the molecular analysis of cancer cells examines the genetic profile of T cells embedded in the skin, he says.

Cho says he and the other researchers on the team found that there are particular molecular profiles that appear to match different skin rashes. Most of these changes are specific to T cells, a major player in a variety of inflammatory conditions.

Inflammatory conditions are behind the largest class of chronic skin diseases, the study notes, adding that single-cell RNA sequencing can help differentiate between these conditions. The study focused on conditions driven by T cell changes like atopic dermatitis, psoriasis vulgaris, lichen planus, and bullous pemphigoid.

While some of these rashes might have been difficult to classify by traditional methods, the research team was able to use genetic signatures to make a more exact diagnosis that was consistent with therapeutic responses. The goal is to integrate data on rash classification from genetic signatures into a visual diagnostic comparison tool for clinicians on RashX.

Although the technology to identify rashes by their genetic signatures is still evolving, Cho says the study showed promising results. In the future, he says there is a possibility that the same technology could be used to guide targeted treatments.

Currently, once a diagnosis is made through visualization or biopsy, Cho says treatment methods range based on classification of the range from mild to more severe, usually starting with topicals and advancing to other therapies. This genetic data, however, could open the door to a shortcut to the most effective treatments for different kinds of rashes.

This really represents something between the biopsy and different drug trials. It gives you a more specific profile, Cho says. I think hopefully were evolving to a place where its not even a two-dimensional spectrum of mild to severe, but multidimensional. Right now, its about trying to identify a rash, but in the future, it might guide treatment.

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Precision Medicine Offers Hope for More Targeted Rash Diagnosis and Treatment - Dermatology Times

After a two-year pause caused by the pandemic, the NIH project recently stopped in Colorado.

The program is inviting more than a million people from all walks of life to help build what its calling one of the most diverse health databases of its kind and improve medical treatment across diverse groups.

Nevarez agreed to answer survey questions and share medical information, including her DNA from urine and blood. That all goes into the giant research database. Nevarez said shes glad to help.

I think that is a good program. And I think that it's good to do this kind of stuff for everybody, she said.

Nevarez is originally from Mexico. She said that the programs diverse pool will create a powerful tool for researchers.

I think that that's my main purpose to come here, just to show my people, my community. said Nevarez. She leads a diabetes prevention program with Vuela for Health, a health promotion group working with the Latino community. We do have to do this, we do have to participate.

The Hispanic/Latino community represents nearly 20 percent of the U.S. population but only about 5 percent of participants in clinical trials. That same tiny figure is true for Black Americans too, who make up more than 13 percent of the population, according to the program.

Often, people from diverse backgrounds havent been asked to participate or told why its valuable, said Edgar Gil Rico, an All of Us principal investigator with the National Alliance for Hispanic Health. Why is it important for me? Why is it important for the community? he said.

He answers his own question: to help with the development of medicines and treatments that are tailored to each individual. Its whats called precision medicine. He said health is not just a list of different symptoms that you have.

The health of a person is more comprehensive. Where you live, what kinds of activities you do, your family health history, your genetics, all of these play a role in providing you the right treatment for you, he said.

It will improve treatments in the long run, said Jaharri Asten, who came to the bus at the Lowry Family Health Center to provide samples of her DNA.

I know a lot of people, especially minorities, feel like the doctors don't understand their culture, she said. And so having this data will help inform the doctors.

Asten is a counselor in substance abuse and addiction with Denver Health and said better research could help improve treatment based on genetic and cultural differences. So it would definitely be a good idea to have different samples so that medicine could be more specialized for each person, she said.

Asten was excited about potential scientific advancements. I just thought it was really fascinating, she said. Whenever I get the opportunity to participate in research, I do it because you never know who it's gonna help or who could be impacted in the future.

Across the U.S., more than 370,000 participants have completed all the basic enrollment steps, including providing a biosample, either blood, saliva or urine, according to an All of Us press officer.

Offering up your own DNA samples to build that database may be too much, too risky, for some.

But the program says the information is anonymized and the data is protected and secured.

Mayela Picado, a nutritionist from Boulder, said she was comfortable with the tradeoffs.

I know how research works, she said. We are gonna be a number. So my genetics and all my information would be just a number.

Alok Sarwal is a big proponent of this project. He leads a diverse medical clinic with offices in Denver and Aurora, the Colorado Alliance for Health Equity and Practice. It serves 20 ethnicities.

Hes encouraged community members to participate. Not only we are contributing to the database, but we are also now going to be utilizers of the database, said Sarwal, the CEO and co-founder of the clinic. Its mission is to improve the health of the states immigrant communities through culturally and linguistically appropriate prevention, health education, wellness activities, early detection, and self-management of disease.

His colleague, program manager Suegie Park, gave an example of how this information could help. She said theres a popular blood thinner, developed by a pharmaceutical company. Blood thinners are key to stopping blood clots, preventing heart attacks and strokes.

That medication works with white people, research has shown, she said, more than 75 percent of the time. Very effective!

But its less than 50 percent effective for Asians, she said. And a big share of her clinics patients are Pacific Islanders, for whom it doesnt work so well. Its effectiveness with native Hawaiians is only 27 percent.

These kinds of concerns are why the NIH created the project. The agency was well-aware that, oh, we need multi-ethnicity, Park said.

In Colorado, 2,175 participants have completed all the basic steps, including contributing a biosample. Nearly 80 percent identify with a category the program calls underrepresented in biomedical research. This includes racial and ethnic groups, sexual and gender minorities, rural populations, older adults, people with disabilities and those with lower educational attainment and/or income, according to the program.

So far, 17 percent of Colorado program participants identify as Hispanic, according to the program; thats a bit less than their 21.6 percent share of the states population. The numbers for other ethnic groups also trail their share of the Colorado population: 2 percent Black participants, compared to their 4.3 percent portion of the states population, 1 percent Asian (compared with 3.6 percent) and 1 percent American Indian/Alaska Native (compared with 1.7 percent).

The project is also drawing plenty of attention from researchers, like Dr. Nathan Clendenden, an anesthesiologist and professor at the University of Colorado.

He said cardiovascular disease, which includes heart attack and stroke, is the biggest killer. Typically he only studies patients in the hospital. But that is a limited number of patients and often doesnt include everyone in the community, Clendenen said.

I think that's been a blind spot in research is that it's not necessarily representative, he said.

Now Clendenen and his team are exploring a new way to start addressing that problem. Theyve started a new study, about preventing blood clots, using the vast genetic database from the All of Us research program. (The title of the research: Platelet Hyperreactivity as a Therapeutic Target for Reducing Stroke in Older Adults after Transcatheter Aortic Valve Replacement.)

The drugs already exist. So this is really about taking existing tools and matching patients to them, he said.

Clendenen said research done via the database promises to make medicine more precise, ideally personalizing the treatment of individual patients and improving, even saving, lives.

So far, 31 Colorado researchers registered to use the All of Us Researcher Workbench and nearly two dozen research projects have been initiated, according to the program. Those include studies of cardio-metabolic health outcomes, genetic risk factors for thyroid cancer, complications from cataract surgery, and Dr. Clendenens research on platelet reactivity as a risk factor for stroke.

(For more details, search the public Research Projects Directory.)

Another advantage for participants is to learn more about their own DNA. The All of Us program notes on its website it will only show results a participant wants to see.

That information may include genetic ancestry, including where someones family might have lived hundreds of years ago, genetic traits, such as why a person might love or hate cilantro, whether they may have a higher risk for certain health conditions and how ones body might react to certain medications.

Program representatives said you could learn about diseases that you might have, or like if there's any disorders or anything. So, of course, that's interesting, said Asten, who is interested to see what her genetic profile shows. You could see your ancestry and who your most recent ancestors are. So I thought that would be kind of cool too.

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Medical research doesn't serve everyone. This effort hopes to build one of the most diverse health databases ever - Colorado Public Radio

REDMOND, Ore. (KTVZ) -- The International Association of Fire Fighters has collected critical funds in the community since 1954 one dollar at a time as part of the Fill the Boot program for the Muscular Dystrophy Association.

TheRedmond Fire Fighters Association Local 3650 willbe continuing this long-standing tradition as its members kick off the annual program raising funds to support MDAs vision to accelerate research, advance care, and advocate for the support of MDA families.

Dedicated fire fighters fromthe Redmond Fire Fighters Association Local 3650will hit the streets with boots in hand asking pedestrians, and motorists, to donate to MDA onThursday, Sept. 15 from 9am-2pm, at the intersections of SW 5th and SW 6th Streets at SW Evergreen Ave.

Individuals and local businesses can also support the fire fighters by donating online at:https://filltheboot.donordrive.com/team/11910

The partnership between MDA and IAFF began in 1954 when the IAFF signed a proclamation designating MDA its charity of choice and vowing to continue raising awareness and funds until cures are found. To date, the nearly seven-decade partnership has raised more than $679 million with involvement from over 300,000 fire fighters nationwide. These funds have led in part to over a dozen FDA-approved drugs in as many years for those with neuromuscular disease. Those treatments were created from MDAs vision to open a new field of medicine and push the boundaries of the medical frontier we call genetic medicine.

What the IAFF has done for MDA over the past 68 years is unprecedented, said Donald S. Wood, Ph.D., President and CEO of MDA. With the support from our partners at the IAFF, MDA is doing the impossible in accelerating research, advancing care, and advocating for people living with neuromuscular disease. We have a mission to empower the people we serve to life longer, more independent lives and we will fulfill this mission together, with the IAFF.

About theIAFF

TheInternational Association of Fire Fightersrepresents more than 326,000 professional fire fighters and paramedics who protect more than 85% of the nation's population. More than 3,500 affiliates and their members protect communities in every state in the United States and in Canada.To learn more visitIAFF.organd follow the IAFF atFacebook,Twitter, andInstagram.

AboutMuscular Dystrophy Association

Muscular Dystrophy Association (MDA) is the #1 voluntary health organization in the United States for people living with muscular dystrophy, ALS, and related neuromuscular diseases. For over 70 years, MDA has led the way in accelerating research, advancing care, and advocating for the support of our families.MDAs mission is to empower the people we serve to live longer, more independent lives. To learn more visitmda.organd follow MDA onInstagram,Facebook,Twitter,TikTok, andLinkedIn.

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Redmond firefighters to 'Fill the Boot' for Muscular Dystrophy Association - KTVZ