DSF Funded Research

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 […]

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 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

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

Gaia Colasante, PhD – Universita Vita-Salute San RaffaeleReactivating Scn1a gene in different interneuron subtypes to dissect their contribution to Dravet syndrome phenotypeResearch Grant – 2 years, $150,000 Grant Summary: Dravet syndrome (DS) is a devastating epileptic syndrome with associated relevant behavioral alterations. Heterozygous mutations in Scn1a gene account for the disease and its gene product, the sodium channel Nav1.1,

Mackenzie Howard, PhD – The University of Texas at AustinCerebellar deficits as mechanisms for motor, cognitive, and social dysfunction in Dravet syndromeResearch Grant – 2 years, $165,000 Grant Summary: In addition to frequent and severe seizures, most people with Dravet syndrome also suffer life-altering difficulties (“comorbidities”) with coordinated movement/muscle control, autism-associated behaviors, and learning and memory that