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Genetics and Metabolism - Basic & Clinical Research


The Section of Genetics and Metabolism pursues basic research on numerous inherited conditions.  Research involves the identification of the genetic basis of inherited disorders, both rare and common. In several rare genetic diseases, current research delineates the spectrum of mutations and how they can predict outcome. Translational research efforts are bringing these new findings to clinical care through our service laboratories. Mutagenesis studies review the impact of environmental variables on producing genetic changes.

Several of our Section’s large studies involve gene discovery in complex diseases, including various autoimmune diseases and cleft lip and palate, one of the most common birth defects.  We have organized VitGene, an international consortium of investigators in multiple countries, and are now performing a very large genome-wide association study of generalized vitiligo (one of the most common autoimmune diseases), which is studying autoimmune thyroid disease in development.  We have also carried out an extensive examination of the developmental genetics of facial development in the mouse, with the long-term goal of identifying genes responsible for human facial development that may play important roles in cleft lip and palate.

For select genetic conditions, we are examining the mechanisms by which genetic changes lead to clinical symptoms. This research involves basic scientific concepts, such as mechanisms of neuronal development, and opens the possibility for new therapeutic avenues, which we can then further pursue in translational clinical studies. Efforts are under way to explore conditions as varied as glutaric aciduria type I, homosytinuria due to cystathionine beta-synthase deficiency, nonketotic hyperglycinemia, mitochondrial liver disorders, and Down syndrome.  We are performing treatment studies that include the use of stem cell treatment for genetic conditions including Down syndrome.

Clinical research in our Section includes studies to describe the clinical spectrum of disorders, such as skeletal dysplasias, and studies on comprehensive care, including new treatments for neurofibromatosis, lysosomal storage disorders, and phenylketonuria. An extensive regional study on the long-term outcome of patients identified through newborn screening is coordinated by our Section.

The Section is also involved in educational research studies on the effectiveness of education in biochemical and clinical genetics for groups of professionals.

The Colorado Intellectual and Developmental Disabilities Research Center (IDDRC) aids investigators in our Section in research into mental retardation and related conditions.

Dr. Katheleen Gardiner's work focuses on the identification of targets for therapeutic intervention in Down syndrome learning/memory deficits using molecular, behavioral, and pharmacological analysis of mouse models combined with computational analysis.

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. Goodman is Director of the Biochemical Genetics Laboratory.

Dr. Ying Jin's research focuses on the genetics of generalized vitiligo and associated autoimmune and autoinflammatory diseases and the effects of iodine on autoimmune thyroid disease.

Dr. Jan Kraus is interested in inborn errors of metabolism, homocystinuria, and propionic acidemia in particular.

Dr. Kenneth Maclean'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. Tomas Majtan studies the molecular basis of two inherited metabolic disorders associated with deficiency of cystathionine beta-synthase (CBS) and propionyl-CoA carboxylase (PCC).

Dr. Tamim Shaikh's research is on copy number variation (CNVs) in human disease, neurodevelopmental genes and genetic pathways, and genome instability and mechanisms of rearrangement.

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. Spector is Director of the Molecular Genetics Laboratory.

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.

Dr. Johan Van Hove's research involves the development of new therapies for genetic metabolic diseases, particularly for diseases of mitochondrial metabolism and for neurometabolic diseases such as nonketotic hyperglycinemia.  Dr. Van Hove is Director of Mitochondrial Laboratory.

Dr. Michael Woontner studies the inborn errors of amino, organic and fatty acid oxidation.