Medical genetics

Revolutionizing Care: NeuroQure’s Groundbreaking Path to Treating Genetic Intellectual Disabilities

Retrieved on: 
Monday, November 6, 2023
Faculty, FDA, Medical genetics, Prader–Willi syndrome, Friends, Intellectual, UC, Translation, Hope, Intermountain Health, University of California, Irvine, Rett syndrome, Pediatrics, Parameter, American Academy, Executive, DSM-IV codes, ASD, Doctor of Philosophy, Vaccine, Management, MD, Fragile X syndrome, Autism spectrum

Despite this staggering number, there are currently no federally approved treatments targeting the genetic roots of these disorders.

Key Points: 
  • Despite this staggering number, there are currently no federally approved treatments targeting the genetic roots of these disorders.
  • The goal of developing gene therapy to treat intellectual disabilities fuels both Justus and Dr. Gargus.
  • We envision a future where intellectual disabilities are not barriers but challenges we can overcome,” said Justus.
  • “NeuroQure’s mission is not merely scientific advancement; it’s a beacon of hope for individuals and families affected by these conditions.”

Thompson and Thompson Genetics and Genomics in Medicine Includes OGM in Latest Edition, Notes Workflow’s Performance and Ability to Detect More SVs than LRS at Lower Cost

Retrieved on: 
Thursday, November 2, 2023
Genetic counseling, Medical genetics, OGM, SVS, Genetics, American Board of Commissioners for Foreign Missions, Doctor of Philosophy, LRS, FACMG, DSM-IV codes, Student, Textbook, SAN, Antibiotics, Genomics, Medicine

The publication, which was last updated in 2015, includes information on new discoveries in the fields of genetics and genomics, the latest technologies in genome analysis, and new diagnoses these methods can enable.

Key Points: 
  • The publication, which was last updated in 2015, includes information on new discoveries in the fields of genetics and genomics, the latest technologies in genome analysis, and new diagnoses these methods can enable.
  • The book’s authors describe OGM as a powerful tool for genome analysis, due to its ability to detect and validate structural variants (SVs) that sequencing techniques may miss.
  • They also note that, when compared to long-read sequencing (LRS), OGM can be less expensive and can resolve complex SVs with greater precision, showing its potential as a tool in clinical research investigations.
  • “We are thrilled to see OGM included in the newest edition of Thompson and Thompson Genetics and Genomics in Medicine, which is the primary training manual for trainees and fellows seeking ABMGG certifications in clinical biochemical genetics, laboratory genetics and genomics, and clinical molecular genetics.

The Galien Foundation Honors 2023 Prix Galien Award Recipients

Retrieved on: 
Friday, October 27, 2023
American Cancer Society, Physiology, Medical genetics, Fred Hutchinson Cancer Research Center, Health technology, P. Roy Vagelos, Peace Corps, Incubator, University of Washington, NASA, Merck, Prix, Creativity, Tufts University School of Medicine, Koch Institute, Endeavour, MIT Jameel Clinic, Digital health, National Aeronautic Association, University, Koch Institute for Integrative Cancer Research, Nobel Prize, Human Genome Sciences, African, ARD International Music Competition, Patient, Doctor of Philosophy, Nursing, Pharmaceutical industry, Biophysics, Biology

NEW YORK, Oct. 27, 2023 /PRNewswire/ -- The Prix Galien USA Committees honored excellence and innovation in life sciences during the Prix Galien USA Forum and 17h annual Prix Galien Awards Gala last night at the American Museum of Natural History in New York City. The USA Committees, composed of 20 committee members, 12 subcommittee members and 20 advisory board members, represented renowned leaders from the biomedical industry and academia. With three Nobel Laureates, these groups honored this year's award winners in the following categories: "Best Biotechnology Product," "Best Pharmaceutical Product," "Best Product for Rare/Orphan Diseases," "Best Medical Technology," "Best Digital Health Solution," "Incubators, Accelerators and Equity" and "Best Startup."

Key Points: 
  • "We are delighted to extend the Prix Galien legacy to another distinguished cohort of winners who have demonstrated the unparalleled skill, innovation, and dedication required across the life sciences industry," said Bruno Cohen, Chairman of The Galien Foundation.
  • "Our Awards Committee, Prix Galien Alumni, and all members of The Galien Foundation extend our gratitude to each winner and nominee, and we look forward to witnessing their impact on the future of global healthcare."
  • The Prix Galien Awards were created in 1970 by Roland Mehl in honor of Galien, the father of medical science and modern pharmacology, to recognize outstanding innovation and scientific advancement.
  • With chapters in 14 countries and Africa, and an inaugural chapter being established in India in 2024, Prix Galien is regarded worldwide as the equivalent of the Nobel Prize for the life science industry.

Duchenne Muscular Dystrophy Added to New York State's Newborn Screening Panel

Retrieved on: 
Wednesday, October 25, 2023
Female, Genetic counseling, Medical genetics, University of Rochester Medical Center, American College, Infant, ACMG, Life, Legislation, NBS, Mentorship, PPMD, Becker muscular dystrophy, Anatomical pathology, Duchenne muscular dystrophy, NYS, Advisory Committee, University, NIH, A.J.K. Mass Communication Research Centre, American College of Medical Genetics and Genomics, Diagnosis, Prognosis, Bangladesh Technical Education Board, Birth control, Pharmaceutical industry, Genomics, Advocacy, Duchenne

WASHINGTON, Oct. 25, 2023 /PRNewswire/ -- In a monumental stride towards improving the lives of children affected by Duchenne muscular dystrophy (Duchenne), Parent Project Muscular Dystrophy (PPMD) proudly announces that Governor Hochul of New York State (NYS) has signed bill S6814/A5042, making Duchenne newborn screening mandatory for all babies born in the state. This remarkable milestone comes after years of dedicated advocacy by PPMD, in collaboration with partners and families, to break down barriers to treatment and care for the Duchenne community.

Key Points: 
  • Another Duchenne Newborn Screening win—every baby born in New York State to be screened for Duchenne muscular dystrophy!
  • WASHINGTON, Oct. 25, 2023 /PRNewswire/ -- In a monumental stride towards improving the lives of children affected by Duchenne muscular dystrophy (Duchenne), Parent Project Muscular Dystrophy (PPMD) proudly announces that Governor Hochul of New York State (NYS) has signed bill S6814/A5042, making Duchenne newborn screening mandatory for all babies born in the state.
  • New York State has paved the path in advancing Duchenne newborn screening, notably through a pilot program carried out from 2019 to 2021.
  • New York State is now the second state, after Ohio, to mandate newborn screening for Duchenne.

Zevra Therapeutics to Present at the 52nd Child Neurology Society Annual Meeting

Retrieved on: 
Thursday, October 5, 2023
Annual general meeting, Senior, Mayo Clinic College of Medicine and Science, Doctor of Philosophy, Advocacy, Trial of the century, Pediatrics, MD, Medical Affairs Bureau, NPC, Zebra, Safety, Disease, Niemann–Pick disease, Therapy, Medical genetics, Child, CNS, Pharmaceutical industry, Neurology, Science

CELEBRATION, Fla., Oct. 05, 2023 (GLOBE NEWSWIRE) -- Zevra Therapeutics, Inc. (NasdaqGS: ZVRA) (Zevra, or the Company), a rare disease therapeutics company, today announced that it will present data related to clinical study outcomes and its early access programs via both oral and poster presentations at the upcoming 52nd Child Neurology Society (CNS) Annual Meeting. This meeting will be held October 4-7, 2023, in Vancouver, Canada. The presentations will focus on arimoclomol, Zevra’s late-stage pipeline program in development for the treatment of Niemann-Pick Disease type C (NPC), including 48 months of efficacy and safety data captured through the double-blind and open-label extension phases of the registrational trial, as well as methodology related to establishing an early access program with real-world data collection capabilities.

Key Points: 
  • CELEBRATION, Fla., Oct. 05, 2023 (GLOBE NEWSWIRE) -- Zevra Therapeutics, Inc. (NasdaqGS: ZVRA) (Zevra, or the Company), a rare disease therapeutics company, today announced that it will present data related to clinical study outcomes and its early access programs via both oral and poster presentations at the upcoming 52nd Child Neurology Society (CNS) Annual Meeting.
  • This meeting will be held October 4-7, 2023, in Vancouver, Canada.
  • “Our team is eager to highlight our arimoclomol program at the 52nd CNS Annual Meeting and engage with the key child neurologists who are treating devastating conditions like NPC where few therapeutic options exist,” said Daniel Gallo, PhD, Senior Vice President of Medical Affairs and Advocacy for Zevra.
  • “The arimoclomol data demonstrate the importance of understanding the long-term efficacy and treatment approach for this potential new therapy for NPC.”
    Marc Patterson, MD, Professor of Neurology, Pediatrics, and Medical Genetics, Mayo Clinic College of Medicine and Science, Rochester, MN

Mount Sinai Announces New System Chief of Genomic Medicine

Retrieved on: 
Tuesday, September 26, 2023
Genomic Health, Cleveland Clinic, University, Population health, Genetics, Icahn School of Medicine at Mount Sinai, Public, Yale New Haven Health System, Murray, Brigham and Women's Hospital, University college, Research, Department of Medicine – University of Pamplona, DSM-IV codes, Mount Sinai, Genetic distance, Doctor of Philosophy, Harvard Medical School, Publication, MD, American College of Medical Genetics and Genomics, Patient, Division, Internal medicine, Cancer, James D. Watson Institute of Genome Sciences, Clinical, Diagnosis, Hospital, Medical genetics, American College, Health, Mount Sinai Health System, Penn State University College of Medicine, Vaccine, Pharmaceutical industry, Medical device, Genomics, Medicine

NEW YORK, Sept. 26, 2023 /PRNewswire-PRWeb/ -- Michael F. Murray, MD, Professor of Medicine at the Icahn School of Medicine at Mount Sinai, has been named the new System Chief of the Division of Genomic Medicine and the Clinical Director of the Institute for Genomic Health at Mount Sinai. He will lead its efforts to harness the power of genomic discovery to develop new ways to prevent and treat diseases, including cancers, heart problems, and genetic disorders.

Key Points: 
  • Michael F. Murray, MD, Professor of Medicine at the Icahn School of Medicine at Mount Sinai, has been named the new System Chief of the Division of Genomic Medicine and the Clinical Director of the Institute for Genomic Health at Mount Sinai.
  • NEW YORK, Sept. 26, 2023 /PRNewswire-PRWeb/ -- Michael F. Murray, MD, Professor of Medicine at the Icahn School of Medicine at Mount Sinai, has been named the new System Chief of the Division of Genomic Medicine and the Clinical Director of the Institute for Genomic Health at Mount Sinai.
  • Before joining the Mount Sinai Health System, he led cutting-edge efforts to integrate genomic medicine into clinical care delivery at Harvard Medical School, Geisinger Community Medical Center, and Yale New Haven Health System.
  • "With the investment that the Mount Sinai Health System has made in genetics and genomics technology in the clinical and research arenas, we are making an impact upon the care we provide to patients in a significant way," said Monica Kraft, MD, the Murray M. Rosenberg Professor of Medicine and System Chair of the Department of Medicine at Mount Sinai Health System and Icahn Mount Sinai.

EveryLife Foundation Study Measures Economic Impact of Delayed Diagnosis of Rare Diseases

Retrieved on: 
Thursday, September 14, 2023
Research, Congressional News, Views, Public Policy, Government, Healthcare Reform, Health, State, Local, General Health, Other Science, Science, Bureau of Labor Statistics, Workforce, Medicine, Medicaid, Life, New Era, ALD, Bureau, Survival, Quality of life, Pfizer, Glycogen storage disease type II, Pharmacy, Anatomical pathology, Diagnosis, Patient engagement in Canada, Occupational therapy, Genetic counseling, FXS, Genetic testing, UnitedHealth Group, Pharmaceutical Research and Manufacturers of America, Sibling, DMD, Alexion Pharmaceuticals, HIV disease progression rates, American College of Medical Genetics and Genomics, Patient, Pediatrics, Physician, Clutch (eggs), Sanofi, Rare, Amicus Therapeutics, Mortality, Infant, American College, Medical genetics, Disease, Medical imaging, Medical device, Pharmaceutical industry, SCID, Genomics, Genentech, Ultragenyx, Optum, Policy

This new study on the Cost of Delayed Diagnosis is a follow-up to the landmark 2021 “ National Economic Burden of Rare Disease Study ,” which estimated that the economic impact of 379 rare diseases in 2019 was nearly $1 trillion, with 60% of those costs being shouldered directly by families and society.

Key Points: 
  • This new study on the Cost of Delayed Diagnosis is a follow-up to the landmark 2021 “ National Economic Burden of Rare Disease Study ,” which estimated that the economic impact of 379 rare diseases in 2019 was nearly $1 trillion, with 60% of those costs being shouldered directly by families and society.
  • “Medical costs for rare diseases are inevitable, but avoidable costs from delayed diagnosis not only place financial strain on individuals and families but also divert crucial healthcare funds.
  • For individuals with late onset Pompe disease, delayed diagnosis increased mean annual direct medical costs in the year of diagnosis by approximately $50,000 per patient compared with timely diagnosis.
  • For more information about “Cost Benefits of Early Diagnosis and Screening in Rare Disease” study, visit the study website at everylifefoundation.org/delayed-diagnosis-study .

Baylor Genetics Announces Neurodevelopmental Disorders Test Panel to Help Healthcare Providers Diagnose Patients with Intellectual Disabilities or Developmental Delays

Retrieved on: 
Tuesday, September 12, 2023
Cognition, Baylor, Communication, Spectrum, Catalog, Genomics, Autism spectrum, Clinical trial, Neurodevelopmental disorder, Prognosis, Brain, Disorder, Behavior, Intellectual disability, Genetics, DSM-IV codes, HIV disease progression rates, MD, Patient, Physician, Child, Development of the nervous system, WGS, Genetic testing, Diagnosis, Medical genetics, Research, American College, WES, Phenotype, Gene, Whole genome sequencing, Pediatrics, American College of Medical Genetics and Genomics, Sequence, Genome, Disease, Vaccine

The panel analyzes a clinically curated and targeted set of 236 genes to help healthcare providers and patients achieve a prompt, accurate genetic diagnosis and a better understanding of prognosis and anticipated disease progression.

Key Points: 
  • The panel analyzes a clinically curated and targeted set of 236 genes to help healthcare providers and patients achieve a prompt, accurate genetic diagnosis and a better understanding of prognosis and anticipated disease progression.
  • Baylor Genetics leveraged its genetic expertise and robust datasets to create the Neurodevelopmental Disorders Panel, which joins a growing catalog of disease-specific panels.
  • The panel is performed on an exome backbone capable of extracting a specific subset of genes for clinical reporting.
  • If panel results are negative, healthcare providers may request Whole Exome Sequencing allowing for broader analysis to help make a genetic diagnosis.

BioMarin to Present Pipeline at Upcoming R&D Day on Tuesday, September 12th

Retrieved on: 
Wednesday, September 6, 2023
Medical genetics, FRCP, University, Royal Free Hospital, University of the Witwatersrand, BioMarin Pharmaceutical, Consultant, Keck School of Medicine of USC, Achondroplasia, Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, National Health Laboratory Service, Charlotte Maxeke Johannesburg Academic Hospital, University of Southern California, BMRN, Division, University of Minnesota Medical School, SAN, NHS foundation trust, Evelina London Children's Hospital, Hospital, Haemophilia, Master of Medicine, Hemostasis, Broadcasting, Instrumentation, Pediatrics, Bachelor of Medicine, Bachelor of Surgery, Endocrinology

SAN RAFAEL, Calif., Sept. 6, 2023 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (NASDAQ: BMRN), a global biotechnology company dedicated to transforming lives through genetic discovery, will host an R&D Day at 8:00 a.m. ET on Tuesday, September 12, 2023. BioMarin management and external experts will provide an update to the investment community on the company's development portfolio.

Key Points: 
  • R&D Day to be Webcast Beginning at 8:00 a.m. Eastern Time September 12th
    SAN RAFAEL, Calif., Sept. 6, 2023 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (NASDAQ: BMRN), a global biotechnology company dedicated to transforming lives through genetic discovery, will host an R&D Day at 8:00 a.m.
  • ET on Tuesday, September 12, 2023.
  • BioMarin management and external experts will provide an update to the investment community on the company's development portfolio.
  • An archived version of the remarks will also be available through the Company's website for a limited time following the event.

Jnana Therapeutics Presents Additional Data from Phase 1a Clinical Study of JNT-517 at SSIEM Annual Symposium

Retrieved on: 
Thursday, August 31, 2023
Science, Society, Phenylketonuria, Aminoaciduria, Pharmacokinetics, SLC6A19, RAPID, SAD, Jñāna, Dicarboxylic acid, DSM-IV codes, PKU, Phenylalanine, Plasma, Oregon Health & Science University, Oregon Health & Science University School of Dentistry, BID, MAD, Ageing, Medical genetics, Therapy, Safety, Pharmaceutical industry, Vaccine, Copper, Metabolism

BOSTON, Aug. 31, 2023 (GLOBE NEWSWIRE) -- Jnana Therapeutics, a clinical-stage biotechnology company leveraging its next-generation chemoproteomics platform to discover medicines for challenging-to-drug targets, today announced that additional data from its Phase 1a clinical trial of JNT-517 in healthy volunteers were presented at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium 2023. JNT-517 is a first-in-class, oral, allosteric inhibitor of the phenylalanine (Phe) transporter SLC6A19 that Jnana is developing for the treatment of phenylketonuria (PKU). The data were presented by Cary O. Harding, M.D., study investigator and Professor of Molecular and Medical Genetics at Oregon Health and Science University School of Medicine.

Key Points: 
  • JNT-517 is a first-in-class, oral, allosteric inhibitor of the phenylalanine (Phe) transporter SLC6A19 that Jnana is developing for the treatment of phenylketonuria (PKU).
  • The data were presented by Cary O. Harding, M.D., study investigator and Professor of Molecular and Medical Genetics at Oregon Health and Science University School of Medicine.
  • The Phase 1a study enrolled 64 healthy adults in a randomized, double-blind, placebo-controlled trial to assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of JNT-517 across single (SAD) and multiple (MAD) ascending dose cohorts.
  • The ongoing Phase 1b study will assess the impact of JNT-517 on plasma Phe levels in individuals with PKU.