Research Activities of IGM Faculty Aravinda Chakravarti, PhD Complex disease; genomics; computational biology David Cutler, PhD Haplotype mapping of the human genome Akhilesh Pandy, MD, PhD Combining mass spectrometry with bioinformatic analyses to study signal Hal Dietz, MD Pathogenetic mechanisms of Marfan syndrome; nonsense-mediated decay Joshua Mendell, MD, PhD Understanding the regulation and function of small regulatory RNA molecules John Mickle, PhD Molecular genetics of secretory and absorptive disorders; channelopathies; euryhaline teleosts Barbara Migeon, MD Determinants of X-chromosome inactivation and genomic imprinting Gregg Semenza, MD, PhD The role of hypoxia-inducible factor-1 in human disease pathophysiology Forrest Spencer, PhD Chromosome structure/function throughout the cell cycle; large scale genetic and networks Gail Stetten, PhD Mechanisms leading from human chromosome abnormalities to clinical phenotype Aravinda Chakravarti, PhD Complex disease; genomics; computational biology Nicholas Katsanis, PhD Genetic basis of oligogenic disorders and the functional characterization of cilia Andy McCallion, PhD Applying comparative functional genomic approaches to elucidate the nature and identity of non- coding mutations in human disease Iain McIntosh, PhD Nail patella syndrome; genetic modifiers of Mendelian disorders; cleft lip and palate Dave Valle, MD Clinical, biochemical and molecular bases of diseas; model systems; genomics and genetic analysis of multifactorial diseases Simeon Boyd, MD Clinical and molecular dysmorphology; genetic analysis of multifactorial diseases Shannon Fisher, MD, PhD Genetic approach to the study of skeletal development, using the zebra fish as a model system Ethylin Wang Jabs, MD Developmental genetics; craniofacial disorders; chromosome structure and function Lori Kotch, PhD Cellular and molecular mechanisms/pathogenesis for environmentally induced and genetically based birth defects Iain McIntosh, PhD Nail patella syndrome; genetic modifiers of Mendelian disorders; cleft lip and palate Roger Reeves, PhD Molecular genetic basis of Down syndrome; genomics; multiple organ dysfunction Nancy Braverman, MD Molecular and clinical basis of peroxisomal diseases; chondrodysplasia punctata and related inborn errors of metabolism Hal Dietz, MD Pathogenetic mechanisms of Marfan syndrome; nonsense-mediated decay Ada Hamosh, MD Clinical implications of human genome project; inborn errors of metabolism Julie Hoover-Fong, MD Clinical medicine and research of skeletal dysplasias; cystic fibrosis and fatty acid metabolism Ethylin Wang Jabs, MD Developmental genetics; craniofacial disorders; chromosome abnormalities Iain McIntosh, PhD Nail patella syndrome; genetic modifiers of Mendelian disorders; cleft lip and palate Dave Valle, MD Clinical, biochemical and molecular bases of diseas; model systems; genomics and genetic analysis of multifactorial diseases Tao Wang, MD, PhD X-linked mental retardation; inborn errors of metabolism
Aravinda Chakravarti, PhD Complex disease; genomics; computational biology Joshua Mendell, PhD Understanding the regulation and function of small regulatory RNA molecules Akhilesh Pandy, MD, PhD Combining mass spectrometry with bioinformatic analyses to study signal Alan Scott, PhD DNA technology, SNPs, Cleft lip/palate, OMIM, evolutionary genetics Nancy Braverman, MD Molecular and clinical basis of peroxisomal diseases; chondrodysplasia punctata and related inborn errors of metabolism Garry R. Cutting, MD Molecular genetics of sinopulmonary diseases Hal Dietz, MD Pathogenetic mechanisms of Marfan syndrome; nonsense-mediated decay Ethylin Wang Jabs, MD Malformations due to transcription factors, receptors, and gap junction protein mutations Nicholas Katsanis, PhD Genetic basis of oligogenic disorders and the functional characterization of cilia Iain McIntosh, PhD Nail patella syndrome; genetic modifiers of Mendelian disorders; cleft lip and palate Andy McCallion, PhD Applying comparative functional genomic approaches to elucidate the nature and identity of non- coding mutations in human disease Gregg Semenza, MD, PhD Transcriptional regulation of gene expression David Valle, MD Clinical, biochemical and molecular bases of diseas; model systems; genomics and genetic analysis of multifactorial diseases Kirby Smith, PhD Genetic bases for phenotypic variability of inherited metabolic diseases; molecular biology of the peroxisome Tao Wang, MD, PhD X-linked mental retardation; inborn errors of metabolism | 
