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Clinical Genetics and Metabolism
Research
The Section of Clinical Genetics and Metabolism pursues clinical and basic research on numerous inherited conditions.
Clinical projects involve disorders of the mitochondrial respiratory chain; inborn errors of amino and organic acid metabolism, including phenylketonuria, homocystinuria, nonketotic hyperglycinemia (NKH) and glutaric acidemias; lysosomal storage disorders; neurofibromatosis, Sturge-Weber syndrome, Recombinant (8) syndrome; vitiligo; autoimmune disorders; and follow-up of disorders detected by expanded newborn screening programs based on tandem mass spectrometry.
Basic research includes biochemical and molecular studies of cystathionine synthase deficiency (homocystinuria), propionyl-CoA carboxylase deficiency (propionic acidemia), glutaryl-CoA dehydrogenase deficiency (glutaric acidemia), and electron transfer flavoprotein (ETF) and ETF dehydrogenase deficiencies (glutaric acidemia type II), genetic disorders of pigmentation (albinism, piebaldism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome), cleft lip and cleft palate and various autoimmune disorders, including vitiligo, Addison disease and diabetes. Studies are also being conducted to delineate the molecular mechanisms that underlie the clinical features of these conditions.
Other research includes determination of genes responsible for the cognitive deficits in Down syndrome as well as the role of cytokines in the cognitive and psychiatric symptoms of lupus.
Dr. Stephen Goodman studies the inborn errors of amino, organic and fatty acid oxidation, with a particular interest in the pathogenesis of striatal degeneration in glutaric academia type 1. Dr. Ellen Elias is a leader in the study of the physiological effects of the cholesterol deficiency seen in the genetic disorder Smith-Lemli-Opitz Syndrome (SLOS). Dr. Paul Fennessey's work involves the application of stable isotopes and mass spectrometry to clinical questions, with a focus on nutrient metabolism and uptake in the developing fetus and in the newborn. Dr. Frank Frerman researches the structure and mechanism of mitochondrial electron transfer proteins and inherited diseases that affect these proteins. Dr. Jan Kraus is interested in inborn errors of metabolism, homocystinuria and propionic acidemia in particular. Dr Kenneth M aclean's research group uses a range of molecular, biochemical and behavioral techniques in conjunction with transgenic and knockout mouse models to investigate the pathological mechanisms that underlie the clinical sequelae of cystathionine beta-synthase deficient homocystinuria, Down syndrome and Fragile X syndrome. Dr. Elaine Spector is interested in transitioning research findings in inherited disorders such as glutaric acidemia and non-ketotic hyperglycinemia into clinical testing for the disorder. Dr. Richard Spritz investigates the genetic and molecular basis of vitiligo and associated autoimmune diseases, albinism and diseases of melanocyte biogenesis, and cleft lip and palate.
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