DSF Funded Research

DSF Funded Research

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 »

Elaine C. Wirrell, MD – Mayo Clinic

Dravet Syndrome International Consensus Project

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 »

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DSF Announces Funding for Five New Research Grants

Last night at their annual Research Roundtable Meeting, the Dravet Syndrome Foundation (DSF) announced funding for five new research grants. DSF is pleased to be funding grants that focus on important topics for individuals with Dravet syndrome, including investigation of metabolic dysfunction, exploration of novel therapeutic targets for disease-modifying therapies, and exploration of changes to

DSF Announces Funding for Five New Research Grants Read More »

Wenxi Yu, PhD University of Michigan

Optimizing the Regional Administration of SCN8a-targeting RNAi Therapy

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 »

Simona Balestrini, MD, PhD – UCL Queen Square Institute of Neurology Sanjay Sisodiya, PhD, FRCP – UCL Queen Square Institute of Neurology

Use of TMS to understand in-vivo the functional pathophysiology of Dravet syndrome and predict treatment response

Simona Balestrini, MD, PhD – UCL Queen Square Institute of Neurology Sanjay Sisodiya, PhD, FRCP – UCL Queen Square Institute of Neurology  $150,000 TWO YEAR CLINICAL RESEARCH AWARD Dravet syndrome (DS) is caused by a genetic change that leads to severe epilepsy with difficult-to-treat seizures, cognitive impairment, other neurological and physical symptoms, and heightened risk

Use of TMS to understand in-vivo the functional pathophysiology of Dravet syndrome and predict treatment response Read More »

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