『Dr. Curtis Rogers on Phelan-McDermid: Diagnosis, Newborn Screening, AI & Gene Therapy Delivery』のカバーアート

Dr. Curtis Rogers on Phelan-McDermid: Diagnosis, Newborn Screening, AI & Gene Therapy Delivery

Dr. Curtis Rogers on Phelan-McDermid: Diagnosis, Newborn Screening, AI & Gene Therapy Delivery

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概要

Dr. Curtis Rogers is a Senior Clinical Geneticist at the Greenwood Genetic Center and a long-time leader in the Phelan-McDermid syndrome (PMS) community.In this wide-ranging conversation recorded at the 2024 Phelan-McDermid community conference, we talk about: • What inspired Dr. Rogers to pursue medicine and genetics • How Phelan-McDermid syndrome was first recognized • How families built a community even before the internet • How genetic testing evolved from early chromosome studies to today’s sequencing • Why access, wait times, and insurance can slow diagnosis • The promise—and ethical complexity—of newborn screening • Where AI is beginning to help in clinical genetics • Why delivering genetic medicines to the brain is one of the biggest real-world challengesGENEration Hope shares stories and science from the rare disease community—focused on what’s changing now, and what’s coming next.▶️ Subscribe for more interviews: @GENErationHope_1 🌐 Learn more: generationhope.co#PhelanMcDermid #SHANK3 #RareDisease #Genetics #GeneTherapy

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