Research News

Sophie Hill, PhD – Children’s Hospital of PhiladelphiaMechanistic investigation in a novel mouse model of early-onset SCN1A-related disordersPostdoctoral Fellowship – $75,000, 1 year Grant Summary: Mutations in the SCN1A gene most commonly cause reduced functioning of the Nav1.1 protein and lead to Dravet syndrome, a debilitating epilepsy disorder. However, a new class of SCN1A mutations […]

Meiling Zhao, PhD – University of MichiganEstablishing the role of the noradrenergic network during seizures in Dravet syndromePostdoctoral Fellowship – $75,000, 1 year Grant Summary: Individuals with Dravet syndrome suffer from severe seizures that cannot be completely controlled by medications. While most epilepsy research has focused on the more superficial brain regions that we know

Megan Abbott, MD – University of Colorado DenverIncreasing clinical trial readiness in Dravet syndrome- Creation and pilot of Dravet-specific clinical outcome measuresClinician-Researcher Award – $75,000, 1 year Grant Summary: Dravet syndrome (DS) is the most common genetic cause of Developmental and Epileptic Encephalopathy (DEE), yet there are no FDA approved disease modifying treatments. Current precision

Ingo Helbig, MD – The Children’s Hospital of PhiladelphiaEthan M. Goldberg, MD, PhD – The Children’s Hospital of PhiladelphiaGenerating a shareable clinico-genomic data resource for Dravet syndrome 2023 Genetic RFA – $1,000,000, 3 years Grant Summary: Individuals with Dravet syndrome can have different disease courses, and there are important differences in how seizure and development differences

Lori L. Isom, PhD – University of MichiganScott Baraban, PhD – University of California San FranciscoJack M. Parent, MD – University of MichiganTherapeutic benefit of MGE progenitor cell transplantation in a rabbit model of Dravet syndromeTransformational Science Grant – $500,000, 3 years Grant Summary: Dravet syndrome (DS) is a devastating developmental and epileptic encephalopathy that

Andreas Brunklaus, MD – University of Glasgow, Royal Hospital for Children, Glasgow, UKSCN1A Horizons – A natural history study of SCN1A-related epilepsies in the United KingdomGrant Support £30,000 ($41,481 USD) Grant Summary: The SCN1A Horizons natural history study launched in November 2023 and will assess up to 400 pediatric and adult patients with SCN1A-related epilepsies, including Dravet

Satya Sahoo, PhD – Case Western Reserve UniversityJeffrey Buchhalter, MD, PhD – University of Calgary School of MedicineDevelopment of an AI-powered Dravet Syndrome OntologySpecial Collaborative Research Project – 2 years, $240,000 Grant Summary: Dravet Syndrome (DS) is a childhood epilepsy associated with severe cognitive, behavioral and life-threatening consequences. Although a significant amount of experimental data in available