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Dr. Scott is a clinical biochemical geneticist and investigates the molecular basis of human metabolic disorders. He supervises a laboratory devoted to the accurate analysis of biological specimens submitted for the chemical or molecular detection of genetic disease and is involved in a molecular diagnostic training laboratory focusing on common disorders affecting children (fragile X, muscular dystrophy, cystic fibrosis, Prader-Willi/Angelman).
Scott's research has focused on the expression and regulation of specific genes. He and his lab group have investigated the mechanism by which abnormalities in the survival motor neuron gene are associated with the clinical phenotype of spinal muscular atrophy (SMA). Laboratory research has recently focused on the mutational events that are responsible for the X-linked disorder, hemophilia B. 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.
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