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Research News

Abbott grant

Increasing clinical trial readiness in Dravet syndrome- Creation and pilot of Dravet-specific clinical outcome measures

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 […]

Increasing clinical trial readiness in Dravet syndrome- Creation and pilot of Dravet-specific clinical outcome measures Read More »

Brunklaus grant

SCN1A Horizons – A natural history study of SCN1A-related epilepsies in the United Kingdom

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

SCN1A Horizons – A natural history study of SCN1A-related epilepsies in the United Kingdom Read More »

DSF Homepage Dravet Family

DSF is creating a biobank of patient-derived iPSCs

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,

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DSF Homepage Dravet Family

Special 2023 Request For Grant Applications: Understanding Broader Genetic Impacts on Phenotype in Dravet Syndrome

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

Special 2023 Request For Grant Applications: Understanding Broader Genetic Impacts on Phenotype in Dravet Syndrome Read More »

Satya Sahoo, PHD & Jeffrey Buchhalter, MD, PHD

Development of an AI-powered Dravet Syndrome Ontology

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

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Gaia Colasante, PHD

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

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

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

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

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

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

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

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

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

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 »

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