Research News
Model systems have allowed researchers to study Dravet syndrome in ways that would not be possible in a human patient. Uncovering the genetic cause of Dravet syndrome (mutations in the SCN1A gene) enabled the development of animal models carrying similar mutations and displaying characteristic symptoms of Dravet syndrome. These animal models include flies, zebrafish, mice, …
DSF is creating a biobank of patient-derived iPSCs Read More »
The Dravet Syndrome Foundation (DSF) is issuing a special request for grant applications proposing research projects that will deepen our understanding of genetic impacts on the diverse phenotypic outcomes of individuals with Dravet syndrome. Application Due Date: September 8, 2023Award Budget: up to $1M distributed over 3 years (beginning in January 2024) Download the RFA …
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, …
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 …
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 …
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 …
In July of this year, the US Food and Drug Administration (FDA) authorized the use of stiripentol (DIACOMIT) for patients with Dravet syndrome aged 6 months and older and taking clobazam (1). Previously, stiripentol was approved for patients aged 2 years and older in the US, which meant there could be a delay in access …
Stiripentol (DIACOMIT): History and New Expanded Approval Read More »
A recent publication from Tanenhaus et al details the preclinical work by Encoded Therapeutics that has led to the development of a potential gene regulation therapy for Dravet syndrome. The study, published in the journal Human Gene Therapy in June, shows proof-of-concept that their approach, ETX101, can be delivered to the correct cells in the …
Preclinical Development of a Gene Therapy for Dravet Syndrome Read More »
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