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Researchers

Photo of Dr. Joann Norma Bodurtha, M.D., M.P.H.

Bodurtha, Joann Norma, M.D., M.P.H.

Professor of Pediatrics
Professor of Oncology
Research Interests: Genetic medicine
 
Photo of Dr. Aravinda Chakravarti, Ph.D.

Chakravarti, Aravinda, Ph.D.

Professor of Medicine
Joint Appointment in Molecular Biology and Genetics
Professor of Pediatrics
Director, Center for Complex Disease Genomics
Research Interests: Molecular basis of complex disease
 
Photo of Dr. Garry R Cutting, M.D.

Cutting, Garry R, M.D.

Professor of Pediatrics
Aetna/U.S. Healthcare Professor of Medical Genetics
Director, Postdoctoral Clinical Genetics Fellowship Programs
Preceptor, Predoctoral Training Program in Human Genetics
Director, DNA Diagnostic Laboratory
Director, Genetic Translational Technology Core
Director, Medical Genetics Training Program
Research Interests: Cystic fibrosis, Determining CFTR genotype in phenotypes that overlap with cystic fibrosis (atypical CF, chronic sinusitis, male infertility and obstructive lung diseases), Identifying genetic variants that contribute to chronic lung disease by linkage and candidate gene approaches, Determining the biological role of the CFTR protein by identifying mutations in patients with CF characterization of CFTR transcripts and protein from patients of various genotypes and analysis of chloride conduction properties of mutated CFTR expressed in various cell types, Structure/function analysis of chloride channels expressed in epithelial tissues and retinal neurons
 
Photo of Dr. Harry C Dietz, III, M.D.

Dietz, Harry C, M.D. III

Professor of Pediatrics
Assistant Professor of Neurosurgery
Associate Professor of Medicine
Joint Appointment in Molecular Biology and Genetics
Co-Director, Medical Genetics Fellowship Training Program
Associate Director, Human Genetics Graduate Training Program
Director, William S. Smilow Center for Marfan Syndrome Research Institute of Genetic Medicine
Investigator, Howard Hughes Medical Institute
Victor A. McKusick Professor of Medicine and Genetics
Research Interests: Pathogenesis of Marfan syndrome, Molecular basis of inherited disorders of vascular development and homeostasis, Genetics of aging, Nonsense-mediated mRNA decay, Cardiovascular genetics, Connective tissue disorders
 
Photo of Dr. Meral Gunay-Aygun, M.D.

Gunay-Aygun, Meral, M.D.

Associate Professor of Pediatrics
Pediatrician, Metabolic Geneticist
Research Interests: Inborn errors of metabolism, Pediatric genetic disorders
 
Photo of Dr. Ada Hamosh, M.D., M.P.H.

Hamosh, Ada, M.D., M.P.H.

Professor of Pediatrics
Dr. Frank V. Sutland Professor of Pediatric Genetics
Research Interests: Integration of genetics into general clinical practice, Education of geneticists, Genotype-phenotype correlations and modifier genes in cystic fibrosis, Nonketotic hyperglycinemia, Clinical implications of human genome project
 
Photo of Dr. Julie Elizabeth Hoover-Fong, M.D., Ph.D.

Hoover-Fong, Julie Elizabeth, M.D., Ph.D.

Associate Professor of Pediatrics
Director, Greenberg Center for Skeletal Dysplasias
Research Interests: Achondroplasia, Skeletal dysplasias, Autism, chromosome abnormalities, clinical genetics, bone health, morbidity & mortality, natural history skeletal dysplasias, Nail Patella syndrome, Cystic fibrosis, Clinical research
 
Photo of Dr. Barbara R. Migeon, M.D.

Migeon, Barbara R., M.D.

Professor of Pediatrics
Research Interests: Molecular basis of X chromosome inactivation, Genomic imprinting in human cells, Relevance to human disease, Sex determination
 
Photo of Dr. Gregg L. Semenza, M.D., Ph.D.

Semenza, Gregg L., M.D., Ph.D.

Professor of Pediatrics
Professor of Biological Chemistry
Professor of Medicine
Professor of Radiation Oncology and Molecular Radiation Sciences
Director, Vascular Program, Institute for Cell Engineering
Research Interests: Protection of the heart against ischemia-reperfusion injury, Role of HIF-1 in cancer, Gene and stem cell therapy for ischemic cardiovascular disease, Molecular mechanisms of oxygen homeostasis, Genetic syndromes due to mutations in genes encoding transcription factors
 
Photo of Dr. Tao Wang, M.D., Ph.D.

Wang, Tao, M.D., Ph.D.

Associate Professor of Pediatrics
Associate Director, Medical Genetics Residency and Fellowship Program
Research Interests: X-linked intellectual disability (XLID), Autism spectrum disorders (ASDs), Inborn errors of metabolism of central nerve system, Molecular basis of X-linked mental retardation and human cognitive development, Pathogenesis and therapy of inherited metabolic disease with CNS involvement
 

 

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