Molecular Basis of Human Disease

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 disease

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

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

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