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Genetic Diseases and Gene Therapy
The overall focus of this laboratory is therapy for inherited metabolic diseases, and a recurring theme is the use of mouse genetics and mouse models of human disease. In particular gene therapy approaches are being explored. Two lysosomal storage diseases, MPS I and MPS VII, have been treated with remarkable success in mouse models using adeno-associated viral vectors to deliver functional gene substitutes for the defective genes that cause these diseases. For systemic correction of lysosomal storage in a variety of tissues, intravenous administration of vector was effective. However, this treatment was not sufficient for correction in the central nervous system due to the blood brain barrier. This problem was circumvented by intrathecal administration of the vector into the cerebrospinal fluid. A single administration of the viral vector resulted in long-term expression of the substitute gene and, thus, essentially permanent reduction or correction of storage pathology. Current research efforts center primarily on Smith-Lemli-Opitz syndrome (SLOS), which is caused by an inherited deficiency in cholesterol synthesis. SLOS is characterized by dysmorphias (e.g., cleft lip), growth delay, and mental retardation. There is no known cure for SLOS. In the Watson lab, mouse models of SLOS are being employed to explore the possibility of gene therapy for this disease.
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