Current Status of Gene Therapies in Rare Neuromuscular Disorders +++++

FEATURED ARTICLES 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. 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. The Genetics of Epilepsy: The Importance of Identifying Underlying Causes https://checkrare.com/the-genetics-of-epilepsy-the-importance-of-identifying-underlying-causes/ Isabella Herman, MD, PhD, and Tara Adams, mother of two daughters with epilepsy discuss the challenges of accurate diagnosis and treatment of epilepsy. Survey Finds Wide-Ranging Impact of X-Linked Hypophosphatemia (XLH) on Patient Experiences https://checkrare.com/survey-finds-wide-ranging-impact-of-x-linked-hypophosphatemia-on-patient-experiences/ Al Freedman, PhD, Rare Disease Psychologist and Rare Dad, and Jill H. Simmons, MD, Endocrinologist at Vanderbilt University Medical Center in Nashville, Tennessee highlight the burden of XLH on personal finances and out-of-pocket costs, overall health—physical, mental, and social—and access to expert care.