"Epilepsy is one of the most common neurological disorders affecting nearly one percent of people worldwide. A complex genetic cause is suspected in approximately two-thirds of cases, but in children, most of all epilepsy diagnoses involve single genes. These early-onset epilepsies disrupt brain development and impact quality of life leading to substantial burdens on the family and society."
"The Department of Pharmacology at Feinberg is leading research to understand the genetic causes of childhood-onset epilepsy, and to investigate what is happening perinatally to brain development in these cases. These efforts provide important new insights into cellular and molecular mechanisms of childhood epilepsy and related neurodevelopmental disorders, and accelerate discovery of novel therapeutic strategies that can modify disease outcomes long term."
"Alfred L. George, Jr., MD, chair and Alfred Newton Richards Professor of Pharmacology, leads the department as well as his own research program that seeks to investigate specific gene mutations in epilepsy. He has been a pioneer in elucidating the genetics and pathogenesis of channelopathies, disorders caused by mutations in ion channel genes that are prominent in early childhood epilepsy."
Epilepsy affects nearly one percent of people worldwide, with approximately two-thirds of cases having complex genetic causes. In children, most epilepsy diagnoses involve single genes that disrupt brain development and significantly impact quality of life. Feinberg's Department of Pharmacology is leading research to understand genetic causes of childhood-onset epilepsy and investigate perinatal brain development changes. Three laboratories received new grant support from the National Institute of Neurological Diseases and Stroke to advance these efforts. Dr. Alfred L. George, Jr., chair of the department, pioneered research on channelopathies—disorders caused by ion channel gene mutations prominent in early childhood epilepsy. His work includes a Channelopathy-Associated Epilepsy Research Center established through a 2018 NINDS grant.
#childhood-onset-epilepsy #genetic-research #channelopathies #neurodevelopmental-disorders #nih-funding
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