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. In the past two lysosomal storage diseases, MPS I and MPS VII, were treated with remarkable success in mouse models. Adeno-associated viral vectors were used to deliver functional gene substitutes for the defective genes that cause these diseases. Currently, research efforts center primarily on Smith-Lemli-Opitz syndrome (SLOS), which is caused by an inherited deficiency in cholesterol synthesis. Because cholesterol has multiple, essential roles in normal physiology and development, SLOS is characterized by a wide variety of problems including 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, and results so far are encouraging.
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Tuesday, April 7, 2015 5:19 PM