DSF Funded Research
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 translplantation 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 …
Brian Theyel, MD, PhD – Brown UniversityAbnormal ectopic action potentials in PV-INs: A novel pathophysiological mechanism in Dravet syndromeResearch Grant – $250,000, 2 years Grant Summary: Dravet syndrome, which is caused by a mutation in the SCN1A gene, is a debilitating illness that emerges during the first year of life. It causes seizures, setbacks during development, speech and language …
Mary Connolly, MB, BCh, FRCPC(C), FRCP(I), FRCP(Edin) – The University of British ColumbiaShubhayan Sanatani, MD, FRCPC – The Universty of British ColumbiaExtended monitoring for cardiac arrhythmias in Dravet syndromeClinical Research Grant – $250,000, 2 years Grant Summary: Dravet syndrome (DS) is a rare serious condition associated with early onset of seizures that typically do not …
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Cristina Reschke, PhD – RCSI University of Medicine and Health SciencesDS-TIME: a multi-assessment approach to uncover the underlying mechanisms of sleep disturbances in children with Dravet syndromeClinical Research Grant – $250,000, 2 years Grant Summary: Dravet syndrome (DS) is a very difficult to treat epilepsy syndrome characterized by seizures that start in the first years …
Sophie Hill, PhD – Children’s Hosptial 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 …
Mechanistic investigation in a novel mouse model of early-onset SCN1A-related disorders Read More »
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 …
Establishing the role of the noradrenergic network during seizures in Dravet syndrome Read More »
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 …
Generating a shareable clinico-genomic data resource for Dravet syndrome Read More »
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 …
Development of an AI-powered Dravet Syndrome Ontology Read More »
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