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Faculty Roster

Dan Arking
Dan Arking, PhD
Assistant Professor

Research Interests:
  • Genetics of complex disease
  • Cardiovascular disease and sudden cardiac death
  • Development and implementation of novel genotyping technologies
Dimitrios AvramopoulosDimitrios Avramopoulos, MD, PhD
Assistant Professor
Beer

Michael Beer, PhD
Assistant Professor

Research Interests:

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

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
Missing Photo

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
chakravarti

Aravinda Chakravarti, PhD
Professor

Research Interests:

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

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
Ginny Corson

Virginia L. Corson, MS, CGC
Associate Professor

Research Interests:

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

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
Dietz

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
Feinberg

Andrew Feinberg, MD, MPH
Professor

Research Interests:

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

Constance Griffin, MD
Associate Professor

Hamosh

Ada Hamosh, MD, MPH
Professor

Research Interests:

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

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

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?
Andy McCallion

Andrew S. McCallion, PhD
Assistant Professor

Research Interests:

Applying functional genetics to human development and disease   
  • Transcriptional regulation in development and disease
  • Genetics of neurological, neuropsychiatric and neural-crest disorders
  • Genetics basis of congenital malformations
Mendell

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
Migeon

Barbara R. Migeon, MD
Professor

Research Interests:

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

Akhilesh Pandey, MD, PhD
Associate Professor

Research Intestests:

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

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 Reeves, PhD

Roger Harper Reeves, PhD
Professor

Reseach Interests:

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

Alan F. Scott, PhD
Professor

Research Interests:

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

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
Missing Photo

Kirby Smith, PhD
Professor

Spencer

Forrest Spencer, PhD
Associate Professor

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

Thomas

George H. Thomas, PhD
Professor

Research Interests:

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

Valle

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

   

Wang

Tao Wang, MD, PhD
Assistant Professor

Research Interests:
  • Molecular basis of X-linked mental retardation and human cognitive development.
  • Pathogenesis and therapy of inherited metabolic diseases with CNS involvement
11/21/2008
 
 
 
 
 

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