Adeline Vanderver, MD, Program Director of the Leukodystrophy Center in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP), Professor of Neurology and Pediatrics, Perelman School of Medicine of the University of Pennsylvania, and Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics, provides an overview of leukodystrophies.
Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the central and peripheral nervous system. Each type of leukodystrophy is due to a specific genetic abnormality that results in the reduced myelin sheaths along neural axons. Symptoms vary with each type of leukodystrophy but can dramatically limit movement, sensory abilities, and overall development.
Dr. Vanderver serves as one of three Co-Principal Investigators of the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a consortium of scientists, industry stakeholders, and patient advocacy leaders working together to promote advances in the diagnosis and treatment of leukodystrophies by creating a robust research infrastructure for collection and analysis of longitudinal natural history data, development of novel functional outcome measures and identification of surrogate biomarkers. The GLIA-CTN is one of 20 research consortia participating in the Rare Diseases Clinical Research Network (RDCRN), funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) in partnership with the National Institute of Neurological Disorders and Stroke (NINDS).
To learn more about leukodystrophies, visit theglia.org.
To learn more about RDCRN, visit rarediseasesnetwork.org/.
To see more interviews with RDCRN Consortium researchers, visit checkrare.com/rare-diseases-clinical-research-network/.