The Neurogenetics Program maintains a multidisciplinary clinic and an active laboratory-based research program. Research focuses on the characterization of oligodendrocyte differentiation and on disorders associated with disruption of oligodendrocyte development and maintenance of their differentiated phenotype. Among the important activities of the program has been the identification of new mutations in the proteolipid gene, the major protein of central nervous system myelin, which cause a broad spectrum of disorders of myelination. Studies are focused on phenotype/genotype correlation and clarification of the pathogenesis of these disorders.
The Lysosomal Diseases Testing Laboratory at Jefferson Medical College specializes in the diagnosis of patients with these genetic disorders. This laboratory was established in 1973 by David A. Wenger, PhD and currently receives the largest number of samples for these diseases in the world.