FEATURED ARTICLES: From Seizures to Sequencing: How Genetic Testing Is Changing Epilepsy Care +++++

FEATURED ARTICLES From Seizures to Sequencing: How Genetic Testing Is Changing Epilepsy Care https://checkrare.com/how-genetic-testing-is-changing-epilepsy-care/ Sophia Ceulemans, MS, Medical Science Liaison at GeneDx offered a high-level overview of the problem of unexplained epilepsy and the rapidly advancing field of genetic testing for this challenging disorder. The Genetics of Epilepsy: The Importance of Identifying Underlying Causes https://checkrare.com/the-genetics-of-epilepsy-the-importance-of-identifying-underlying-causes/ Obtaining a diagnosis of epilepsy is only the first step before optimal treatment can be implemented. Research has proven that a substantial portion of epilepsy cases are associated with a genetic cause. Current Status of Gene Therapies in Rare Neuromuscular Disorders https://checkrare.com/current-status-of-gene-therapy-in-rare-neuromuscular-disorders/ Alan Beggs, PhD and Julie A Parsons, MD, discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. Current Status of Gene Therapy in Lysosomal Storage Disorders https://checkrare.com/current-status-of-gene-therapy-in-lysosomal-storage-disorders/ Nicola Longo MD, PhD and Mark Roberts, MD discuss the current status of gene therapies in lysosomal storage disorders. Catching the Clues, Changing the Course of Lysosomal Storage Disorders https://checkrare.com/catching-the-clues-changing-the-course-of-lysosomal-storage-disorders/ Yoshikatsu Eto, MD, PhD, Nicole Muschol, MD, Patrício Aguiar, MD, and Robert Hopkin, MD, explore the patient journey across the lysosomal storage disorder (LSD) continuum, focusing on persistent gaps in recognition, diagnosis, timely treatment initiation, and long-term care.