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Upcoming EL-PFDD Meeting February 3rd!

Optimizing the Regional Administration of SCN8a-targeting RNAi Therapy

By |2021-12-02T15:06:33-05:00December 2nd, 2021|Categories: Uncategorized|

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 [...]

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

By |2021-12-02T15:05:01-05:00December 2nd, 2021|Categories: Uncategorized|

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 [...]

Ketogenic Diet Modulated Brain Energy Metabolism in Dravet Syndrome

By |2021-12-02T15:01:15-05:00December 2nd, 2021|Categories: Uncategorized|

Liu Lin Thio, MD, PhD - Washington University in St. Louis Joel R. Garbow, PhD - Washington University in St. Louis $150,000 TWO YEAR RESEARCH AWARD Co-funded with JAM for Dravet Children with Dravet syndrome have drug-resistant epilepsy characterized by different seizure types along with developmental regression and intellectual impairment. Dravet syndrome is genetic with [...]

Targeting Molecular Responses to Seizures in Dravet Syndrome

By |2021-12-02T14:41:02-05:00December 2nd, 2021|Categories: Uncategorized|

Jacy Wagnon, PhD - Ohio State College of Medicine $150,000 TWO YEAR RESEARCH AWARD Many individuals with Dravet syndrome (DS) do not achieve adequate seizure control using available drug treatments. These drugs also do not sufficiently treat other symptoms of DS, including behavioral and cognitive impairments. We analyzed gene expression in a mouse model of [...]

Lymphoblast cell lines as a model to uncover metabolic defects in Dravet syndrome Copy

By |2021-12-02T14:36:30-05:00December 2nd, 2021|Categories: Uncategorized|

Manisha N. Patel, PhD - University of Colorado Kelly G. Knupp, MD - Children’s Hospital Colorado $150,000 TWO YEAR RESEARCH AWARD Dravet syndrome (DS) is a catastrophic developmental and epileptic encephalopathy characterized by intractable early-life seizures, and debilitating comorbidities such as cognitive deficits, developmental delay, sleep disturbances, progressive movement abnormalities and increased risk of sudden [...]

Lymphoblast cell lines as a model to uncover metabolic defects in Dravet syndrome

By |2021-12-02T14:35:55-05:00December 2nd, 2021|Categories: Uncategorized|

Manisha N. Patel, PhD - University of Colorado Kelly G. Knupp, MD - Children’s Hospital Colorado $150,000 TWO YEAR RESEARCH AWARD Dravet syndrome (DS) is a catastrophic developmental and epileptic encephalopathy characterized by intractable early-life seizures, and debilitating comorbidities such as cognitive deficits, developmental delay, sleep disturbances, progressive movement abnormalities and increased risk of sudden [...]

Veronica Hood, PhD

By |2021-11-17T15:46:45-05:00November 17th, 2021|Categories: Uncategorized|

Veronica joined DSF in 2020. She has an MS in Biology from East Tennessee State University and a PhD in Cell, Stem Cell, and Developmental Biology from the University of Colorado. She spent 10 years in laboratory settings researching how small changes in genetic and molecular regulation contribute to complex neurological diseases. In 2007, [...]

John Oakley, MD, PhD

By |2021-11-17T15:42:54-05:00November 17th, 2021|Categories: Uncategorized|

John Christopher Oakley, M.D., Ph.D., is a board certified neurologist and a UW associate professor of Neurology and an adjunct associate professor of Pharmacology.Dr. Oakley specializes in epilepsy. He strives to create active partnerships with his patients to achieve the best possible outcomes. Dr. Oakley earned his M.D. and Ph.D. at the UW. His [...]

Christopher Ahern, PhD

By |2021-11-29T11:33:15-05:00November 17th, 2021|Categories: Uncategorized|

Chris Ahern’s lab at the University of Iowa Carver College of Medicine studies the molecular function of ion channels and the basis for ion channel disorders. He received his BS in Chemistry and PhD in Physiology at UW-Madison where he was interested in the function of calcium ion channels in skeletal muscle. He then [...]

Jack Parent, MD

By |2021-11-17T12:51:35-05:00November 17th, 2021|Categories: Uncategorized|

Jack M. Parent, MD, is the William J. Herdman Professor of Neurology, Research Professor of the Michigan Neuroscience Institute and co-director of the Epilepsy Center at the University of Michigan. He is a past Secretary of the American Neurological Association, past Board member of the American Epilepsy Society and recently served as Chief Editor [...]

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