DSF Funded Research

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 »

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, …

Reactivating Scn1a gene in different interneuron subtypes to dissect their contribution to Dravet syndrome phenotype Read More »

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 …

Cerebellar deficits as mechanisms for motor, cognitive, and social dysfunction in Dravet syndrome Read More »

William Nobis, MD, PhD – Vanderbilt UniversityEffect of odorant on mortality and extended amygdala activation in Dravet syndromeResearch Grant – 2 years, $165,000**Co-funded with JAM for Dravet Grant Summary: Dravet syndrome (DS) is associated with a high epilepsy-related mortality, including an increased risk of sudden unexpected death in epilepsy (SUDEP). Controlling seizures can decrease the risk of SUDEP, …

Effect of odorant on mortality and extended amygdala activation in Dravet syndrome Read More »

Ashwini Sri Hari, PhD – University of UtahEvaluating the effects of sub-chronic exposure to sub-clinical levels of CO on Dravet etiology and associated SUDEP riskPostdoctoral Fellowship – 1 year, $75,000 Grant Summary: Carbon monoxide (CO) is one of the top most deadly air pollutants that is positively associated with an increased risk of epilepsy hospitalizations and sub-clinical …

Evaluating the effects of sub-chronic exposure to sub-clinical levels of CO on Dravet etiology and associated SUDEP risk Read More »

David Auerbach, PhD – The Research Foundation for SUNY/Upstate Medical UniversityGenetic Substrates and Physiological Triggers for Autonomic and Cardiac Abnormalities in Dravet SyndromeClinical Research Grant – 2 years, $150,000**Co-funded with JAM for Dravet Grant Summary: Patients with Dravet syndrome (DS) are at a high risk of sudden death. The cause of death is often unknown, and is …

Genetic Substrates and Physiological Triggers for Autonomic and Cardiac Abnormalities in Dravet Syndrome Read More »

Elaine C. Wirrell, MD – Mayo ClinicDSF Research Award – $75,000 (1 year project)Dravet Syndrome International Consensus Project (funding provide through unrestricted grants from Biocodex, Greenwich Biosciences, and Zogenix) A core group of pediatric and adult epilepsy specialists, with input from DSF, has identified important clinical issues relating to the diagnosis and management of patients with …

Dravet Syndrome International Consensus Project Read More »

Wenxi Yu, PhD – University of Michigan $50,000 ONE YEAR POSTDOCTORAL FELLOWSHIP Co-funded with JAM for Dravet Mutations in the sodium channel genes SCN1A and SCN8A are a significant cause of Developmental Epileptic Encephalopathies (DEEs), severe seizure disorders. We demonstrated that reduced expression of Scn8a using a specific ASO can prevent the onset of seizures …

Optimizing the Regional Administration of SCN8a-targeting RNAi Therapy Read More »