Leukodystrophy Center of Excellence



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The Leukodystrophy Center of Excellence is a diagnostic, clinical care, and research initiative that addresses the unique needs of infants, children and adolescents with inherited white matter diseases. Formed in response to legislation in Pennsylvania and New Jersey to add several leukodystrophies to the newborn screening panel, the Center of Excellence meets the need for families to obtain state-of-the-art laboratory and imaging diagnostics and integrated multidisciplinary care from top specialists across CHOP.

Experts in the Center are engaged in a number of studies focused on the diagnosis, characterization, and treatment of individual leukodystrophies. These research efforts include both clinical trials and natural history studies, with an aim toward developing new treatment approaches and potential cures.

The robust research in the Center includes topics like Aicardi-Goutières Syndrome, Alexander Disease, collaborative research initiative for white matter disorders, autoinflammatory syndromes, whole-genome sequencing as a first-line diagnostic tool, metachromatic leukodystrophy, multiple sulfatase deficiency, hypomyelination, and a myelin disorders biorepository, among others.

For more information about clinical research projects, please contact Omar Sherbini, MPH.

For more information about basic science research projects, please contact Asako Takanohashi, PhD, DVM.