All About DRPLA

During this webinar, experts will discuss Dentatorubral-Pallidoluysian Atrophy (DRPLA), the typical diagnostic journey for those affected, what to expect for clinical care, and an overview of current research into this disease. For more information on Ataxia, please visit our website: https://www.ataxia.org Become a Free NAF member! https://bit.ly/JoinNAF Follow us on Social Media! NAF Facebook: / ataxiafounda. . NAF Twitter: / naf_ataxia NAF Instagram: / ataxiafound. . Ataxia Subreddit: / ataxia About the Speaker- Speaker: Yael Shiloh-Malawsky, MD Institution/Company Name: University of North Carolina Bio: Dr. Yael Shiloh-Malawsky is Professor of Neurology at the University of North Carolina at Chapel Hill, board certified in Pediatrics, Child Neurology, and Epilepsy. She earned an MD from Tel Aviv University in Israel, completed Pediatric Residency at Tel Hashomer, Israel, Child Neurology Residency, and Epilepsy Fellowship at the University of North Carolina at Chapel Hill. Her clinical and research focus is on neurogenetics, gene-based therapeutics, and neuroimmunology. She is the clinical core leader of the UNC Epilepsy NeuroGenetics Initiative (ENGI), director of the UNC DRPLA Center of Excellence by CureDRPLA, and a member of the UNC Ataxia Center of Excellence designated by the National Ataxia Foundation. In addition, Dr. Shiloh-Malawsky serves as director of the UNC Batten Disease Center of Excellence by the BDSRA and director of the UNC Rett Syndrome Center of Excellence by the IRSF. In addition to clinical care of patients with neurological disorders, she leads clinical and translational research in genetic disorders and epilepsy. Serves as principal investigator of clinical trials, natural history studies, and registry studies. Dr. Shiloh-Malawsky is the Principal investigator of the UNC site of the DRPLA Natural History and Biomarker Study by Ataxia UK. Principal investigator of currently running clinical trials including an n-of-2 ASO for treatment of twin girls with an ultra-rare CLN3 mutation, an n-of-1 ASO clinical trial for ASXL3 Bainbridge-Ropers syndrome (BRPS), the UNC site of the phase 3 trial of ASO in Dravet Syndrome by Stoke Therapeutics, Inc., and the UNC site of the phase 3 trial of gene therapy in Rett syndrome by Neurogene Inc. About the Series: NAF is producing a series of monthly educational webinars that focus on one type of Ataxia at a time. Each month we will feature a different type. Clinical experts will join us to take a look at the causes and symptoms of the disease, the typical diagnostic journey for those affected, and what to expect for clinical care. Research experts will teach us how the disease is studied and give an overview of the current state of research and drug development.