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A First in Rare Disease Genetics: Emma’s Story and the Untapped Power of ‘Junk DNA’ Emma Broadbent's groundbreaking diagnosis as the first patient with a disorder caused by CHASERR lncRNA deletion showcases the profound potential of exploring non-coding DNA. Her story underscores the importance of these "genomic dark regions" in rare disease diagnosis. Join us at PMWC 2025 in the CGT in Rare Disease Track (Feb. 5-7) to delve into the latest advancements in rare disease research: ~Keynote: Bioorthogonal Chemistry, from Basic Science to Clinical Translation Carolyn Bertozzi, Stanford ~Keynote: The Promise of Genetic Medicines Unless You're Too Poor or Too Rare- James M. Wilson, GEMMA Biotherapeutics ~Addressing Ethical and Financial Barriers in Gene Therapy Chair: Tim Hunt, Alliance for Regenerative Medicine ~Next-Generation Delivery Systems for Gene Therapies Chair: Morten Sogaard, Astellas Gene Therapies Panelists: Mathieu Nonnenmacher (Voyager Therapeutics, Inc.), Kevin Friedman (Kelonia Therapeutics), Kunwoo Lee (GenEdit), Haig Aghajanian (Capstan Therapeutics) ~Beyond the Genome: Harnessing Epigenetics in Rare Disease Treatment Chair: Charles Gersbach, Duke Panelists: Prashant Mali, (UCSD), Nadav Ahituv (UCSF), Blythe Sather (Tune Therapeutics), Fyodor Urnov (Berkeley University) ~Navigating the Regulatory Landscape for Gene and Cell Therapies Chair: Yael Weiss, Mahzi Therapeutics Panelists: Courtney Silverthorn (BGTC), Peter Marks (FDA), Benjamin Dewees (Kyverna Therapeutics) ~AI-driven Improvements in Gene and Cell Therapy Chair: Morten Sogaard, Astellas Panelists: Francois Vigneault (Shape Therapeutics Inc.), John Androsavich (Ginkgo Bioworks, Inc.), Yogev Debbi (Mana.bio) See program: https://lnkd.in/gPtkWZbQ Emma's story by BioQuick News- https://shorturl.at/LEMcc PMWC - Precision Medicine World Conference, Mike O'Neill #PMWC2025 #RareDiseases #PrecisionMedicine #Genomics #HealthcareInnovation #GeneticResearch #NonCodingDNA #RareDiseaseAwareness #GenomicInnovation #GeneTherapy #PersonalizedMedicine