University of Washington
RR-537 Health Sciences Building
Pediatrics, Box 356320
Seattle, WA 98195-7110
Phone: (206) 543-3370
FAX: (206) 543-3379
Laboratory research interest has recently focused on the mutational events that are responsible for the X-linked disorder, hemophilia B. In collaboration with Drs. Hans Chen and Arthur Thompson, the molecular defects involving the factor IX gene have been shown to involve deletions, insertions and single base pair changes. The specific mutations are usually unique for each family and can be used for carrier detection and prenatal diagnosis. The mutations that affect the factor IX locus are being used as a model to address questions of mutation rate in male and female gametes and mechanisms of recombination for X-linked genes. Dr. Scott is a clinical biochemical geneticist and investigates the molecular basis of human metabolic disorders. He supervises a clinic committed to the diagnosis and management of children affected with inborn errors of metabolism, and is responsible for the supervision of a laboratory devoted to the accurate analysis of biological specimens submitted for the chemical or molecular detection of genetic disease. Diagnostic techniques in biochemical genetics using gas chromatography/mass spectroscopy, high pressure liquid chromatography, and enzyme analyses are available for training of post doctoral fellows. A molecular diagnostic laboratory focusing on common disorders affecting children (fragile-X, muscular dystrophy, cystic fibrosis, Prader-Willi/Angelman) is also available for training. In collaboration with investigators at the Fred Hutchinson Cancer Research Center, a clinical trial has been initiated on the efficacy of gene therapy for patients with Gaucher disease. This program uses isolated bone marrow stem cells that have been transfected with retroviral vectors containing the normal b-glucocerebrosidase gene.
Investigator: Dr. Scott is a Professor of Pediatrics, and an Associate of the Center on Human Development and Disability.