Faculty Roster

Michael Beer, PhD
Assistant Professor

Research Interests:

• Combinatorial gene regulation
• Computational molecular biology and genomics
• Bayesian networks and machine learning

Karin Blakemore, MD
Professor

Research Interests:

• Prenatal diagnosis and genetic abnormalities of the fetus
• Intrapartum maternal and fetal physiology
• Fetal therapy
• In utero bone marrow transplantation Red cell alloimmunization and platelet alloimmunization

Corinne Boehm, MS
Associate Professor

Research Interests:

• DNA-based diagnostics of genetic disorders
• Identification of genes involved in common disorders
• High through-put genotyping service

Aravinda Chakravarti, PhD
Professor

Research Interests:

• Molecular basis of complex disease
• Genomics
• Population genetics
• Computational biology

Ronald Cohn, MD
Assistant Professor

Research Interests:

• Molecular mechanisms of muscle regeneration in various inherited and acquired myopathic states
• Molecular pathogenesis of cardiomyopathies associated with muscular dystrophy
• Molecular mechanisms of hypotonia and muscle weakness in genetically characterized mouse models of various disease entities
• Molecular mechanism underlying the maintenance of skeletal muscle during hibernation

Virginia L. Corson, MS, CGC
Associate Professor

Research Interests:

• In utero stem cell therapy
• Prenatal diagnosis of congenital anomalies

Garry Cutting, MD
Professor

Research Interests:

• 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
• Characterization of CFTR transcripts and protein from patients of various genotypes
• 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

Harry (Hal) Dietz, MD
Professor

Research Interests:

• Pathogenesis of Marfan syndrome
• Molecular basis of inherited disorders of vascular development and homeostasis
• Genetics of aging
• Nonsense-mediated mRNA decay

Andrew Feinberg, MD, MPH
Professor

Research Interests:

• Epigenetics and DNA methylation
• Genomic imprinting
• Cancer biology
• Genomic Imprinting

Constance Griffin, MD
Associate Professor

Ada Hamosh, MD, MPH
Professor

Research Interests:

• Genotype-phenotype correlations and modifier genes in cystic fibrosis
• Nonketotic hyperglycinemia
• Clinical implications of human genome project

Julie Hoover-Fong, MD, PhD
Assistant Professor

Research Interests:

• Clinical Genetics
• Fatty acid abnormalities in cystic fibrosis
• Skeletal dysplasias; natural history, morbidity & mortality, bone health, OB anesthesia
• Nail Patella Syndrome; natural history, phenotype-genotype
• Twin and Sibling study of modifer genes in cystic fibrosis

Nicholas Katsanis, PhD
Associate Professor

Research Interests:

• What is the genetic basis of phenotypic variability in seemingly monogenic disease?
• How is it that ubiquitously expressed genes give rise to specific phenotypes?
• What is the mechanistic defect of disorders that exhibit both structural and progressive features?
• Is there a functional link between rare disorders and common traits with overlapping clinical manifestations?

Andrew S. McCallion, PhD
Assistant Professor

Research Interests:

• Transcriptional regulation in development and disease
• Genetics of neurological, neuropsychiatric and neural-crest disorders
• Genetics basis of congenital malformations

Joshua Mendell, MD, PhD
Assistant Professor

Research Interests:

• Post-transcriptional regulation of gene expression
• microRNA biogenesis and function
• Characterization of microRNA dysfunction in pathologic states

Barbara R. Migeon, MD
Professor

Research Interests:

• Molecular basis of X chromosome inactivation
• Genomic imprinting in human cells
• Relevance to human disease
• Sex determination

Akhilesh Pandey, MD, PhD
Associate Professor

Research Intestests:

• Phosphorylation and signal transduction
• Proteomics and mass spectrometry
• Bioinformatics
• Databases

Margaret B. Penno, PhD
Associate Professor

Research Interests

• Cellular adhesion and chemotaxis
• Cellular invasion of the basement membrane
• Cell surface adhesion molecules
• Cell Culture

Roger Harper Reeves, PhD
Professor

Reseach Interests:

• Mechanisms of gene action in Down syndrome
• Quantitative trait loci in the inflammatory response

Alan F. Scott, PhD
Professor

Research Interests:

• Genetic/genomic technology
• SNP association studies for complex traits
• Genome annotation  

Gregg Semenza, MD, PhD
Professor

Research Interests:

• Molecular mechanisms of oxygen homeostasis
• Gene and stem cell therapy for ischemic cardiovascular disease
• Role of HIF-1 in cancer
• Protection of the heart against ischemia-reperfusion injury

Kirby Smith, PhD
Professor

Forrest Spencer, PhD
Associate Professor

• DNA replication/repair and sister chromatid cohesion
• Genetic variation and genome evolution
• Synthetic lethal interaction analysis
• Genetic interaction map of yeast
  

George H. Thomas, PhD
Professor

Research Interests:

• Biochemical genetics
• Inborn errors of metabolism
• Clinical cytogenetics
• Molecular cytogenetics

David Valle, MD
Professor

Research Interests:

• Clinical, biochemical, and molecular bases of disease
• Genetic factors in neuropsychiatric disease
• Inborn errors of metabolism
• Peroxisomal disorders
• Education
• Medical sequencing, genome sequencing and comparative genomics

• Molecular basis of X-linked mental retardation and human cognitive development.
• Pathogenesis and therapy of inherited metabolic diseases with CNS involvement