Research Activities

Bioinformatics  & Computational Biology  

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

Cellular Mechanisms

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

Complex Traits

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

Developmental Genetics

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

 Genetic Disease Natural History and Treatment

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

Genomics 

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

Molecular Basis of Human Disease

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