Why the MIND Study Matters: Building Clinical Trial Readiness for MED13L with Abigail Svedeen, MS, CGC

Why the MIND Study Matters: Building Clinical Trial Readiness for MED13LIn this powerful and informative episode of Voices of MED13L, Vanessa sits down with Abigail Sveden, MS, CGC, a genetic counselor at the Boston Children's Hospital and member of the Rosamund Stone Zander Translational Neuroscience Center (TNC).Together, they unpack the critical importance of the MIND Study — MED13L Syndrome Investigation of Natural History and Development — and what it means for families today and for the future of therapeutics.🧬 What You'll Learn in This Episode:What translational neuroscience really means — and how lab discoveries move toward real-world treatmentsWhy natural history studies are essential for clinical trial readinessHow longitudinal data helps researchers understand development over timeThe role of neurobehavioral assessments (including the Vineland) in FDA-approved outcome measuresWhy standardized data collection is critical for future therapeuticsNew clinical observations emerging from the MED13L cohortHow participation today helps prevent future families from facing a “Google search diagnosis”Abigail shares how the TNC brings together experts in genetics, neurodevelopment, EEG, regulatory science, and basic research — all working toward one goal: improving outcomes for individuals with rare neurodevelopmental disorders like MED13L.Vanessa also speaks candidly about the parent experience — the emotional weight of surveys, the importance of being heard, and why documenting your child’s story is one of the most powerful contributions you can make to the community.📊 MIND Study Snapshot🎯 Goal enrollment: 30 participants✅ 27 fully enrolled📈 24 have completed Year One components🔁 Annual follow-up is critical for longitudinal data📍 In-person visits at Boston Children’s Hospital prioritized (virtual options available)Participation includes:Interview-style visits with the study teamNeurobehavioral assessmentsStandardized questionnaires (including the Vineland)Medical record reviewOptional photo and biospecimen contributionThis data builds the foundation for:Clinical trial readiSupport the showResourcesMED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/Profile Frame for Socials: https://twb.nz/med13lfoundationBe Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13lCommunity Checklist: Google Drive LinkCRID: thecrid.orgCitizen Health: citizen.health/partners/med13l-foundationSimons Searchlight: https://research.simonssearchlight.org/account/createRare-X: rare-x.org/med13lWebsite: med13l.orgFacebook: facebook.com/med13lfoundationInstagram: instagram.com/med...