Call for Content - New therapy development roadmaps for Rare Epilepsies

By Dr. Brandy Fureman and DR. Rodney Samaco

The rare epilepsies are a group of conditions characterized by seizures that are often unresponsive to standard treatments. In rare epilepsy syndromes, seizures may also be accompanied by multiple other chronic symptoms or co-morbidities, including developmental delays, sleep and behavioral issues, and digestive problems, among others. The last decade featured explosive growth in scientific understanding of the genetic underpinning of many (though not all) of the rare epilepsies. As a result, today’s therapeutic landscape is transitioning to targets related to molecular etiologies in addition to the neuronal excitability mechanisms that have traditionally served as drug targets in epilepsy. Today on International Epilepsy Day we are opening this Special Collection - Therapeutic roadmaps in rare epilepsies. This collection will feature articles that showcase how rare epilepsy patient advocacy organizations have taken a strategic leading role in helping to accelerate therapy development for their conditions. Each paper will describe a unique rare epilepsy syndrome and the therapeutic “roadmap” that is available to developer seeking to bring new targets to the marketplace.

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About the Authors

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Dr. Brandy Fureman is the Chief Outcomes Officer for the Epilepsy Foundation, working to ensure that the Foundation’s activities result in better outcomes and quality of life for all people living with epilepsy. She leads the Epilepsy Learning Healthcare System, a patient-centered improvement network of epilepsy centers across the US.

Dr. Fureman previously served as a Program Director with the National Institute of Neurological Disorders and Stroke (NINDS), overseeing a portfolio of basic, translational and clinical epilepsy research, including clinical trials. She was a Presidential Management Fellow at the NINDS, graduated from Cedar Crest College with a B.S. in Genetic Engineering Technology and received her Ph.D. in Neuroscience from the Department of Neuroscience and Anatomy at the Pennsylvania State University College of Medicine. Her research interests focused on molecular and behavioral effects of ion channelopathy and triggers of dysfunction in episodic neurological disorders.

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Dr. Rodney Samaco’s research program focuses on optimizing the framework for preclinical readiness of rare disease models. His team evaluates the natural history of disease in genetically modified rodents to identify measures that may serve as surrogate endpoints. By fostering collaborations across the landscape of patient advocacy, academic, and industry groups, he strives to advance community-based participatory approaches in the research and development of actionable therapies for rare and ultra-rare genetic conditions.

ORCID: https://orcid.org/0000-0001-5636-5314
https://www.bcm.edu/people-search/rodney-samaco-30046