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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
Mary Armanios

Mary Armanios, MD
Assistant Professor

Research Interests:

  • Biology and genetics of age-related disease
  • Understand the genetics and pathophysiology of telomere-mediated disorders
Dimitrios Avramopoulos

Dimitrios Avramopoulos, MD, PhD
Associate Professor

Research Interests:

  • Complex traits
  • Neuropsychiatric disorders including schizophrenia and Alzheimer disease
  • Linkage & association studies
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 services
chakravarti

Aravinda Chakravarti, PhD
Professor

Research Interests:

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

An interview with Dr. Chakravarti

Barton Childs

Barton Childs, MD
Professor

Research Interests:

  • Genetic medicine
  • Genetics in medical curriculum
  • Human individuality 
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
  • 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:

  • Cystic fibrosis
  • Determining CFTR genotype in phenotypes that overlap with cystic fibrosis
  • Identifying genetic variants that contribute to chronic lung disease by linkage and candidate gene approaches
  • Biological role of the CFTR protein
  • Characterization of CFTR transcripts and proteins 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
Missing Photo

Cheryl DeScipio, PhD

Feinberg

Andrew Feinberg, MD, MPH
Professor

Research Interests:

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

Constance Griffin, MD
Associate Professor

Research Interests:

  • Cytogenetics
  • Cancer genetics
Gunay-Aygun

Meral Gunay-Aygun, MD
Assistant Professor

Research Interests:

  • Ciliopathies
  • Gray platelet syndrome and other platelet organelle formation disorders
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
  • Director, Online Mendelian Inheritance in Man
Hoover-Fong

Julie Hoover-Fong, MD, PhD
Assistant Professor

Research Interests:

  • Clinical genetics
  • Fatty acid abnormalities in cystic fibrosis
  • Skeletal dysplasias
  • Natural history, morbidity and mortality, bone health, OB anesthesia
  • Nail patella syndrome
  • Twin and sibling study of modifer genes in cystic fibrosis

An interview with Dr. Hoover-Fong

Steven Leach

Steve Leach
Professor

Research Interests:

  • Identification and characterization of epithelial progenitor cells in adult and embryonic pancreas
  • Identifying novel targets of the pancreas-specific Ptf1 transcriptional complex, using genome-wide screening techniques
  • Identification and characterization of novel transcription factors regulating exocrine pancreas development through mutagenesis of the zebrafish genome, using both traditional chemical mutagenesis as well as a novel transposon-mediated gene trapping approach
  • Determining the role of microRNA’s in the regulation of pancreatic epithelial differentiation
  • Functional annotation of the pancreatic cancer genome in zebrafish

Maegawa.jpg

Gustavo H.B. Maegawa, MD, PhD
Assistant Professor

Research Interests:

  • Development of treatment strategies for lysosomal storage diseases on pre-clinical and clinical level
  • Molecular pathogenesis of lysosomal storage diseases
  • Molecular mechanism and manipulation of protein folding
  • Understanding the regulation of the posttranslational endoplasmic reticulum quality control system
Andy McCallion

Andrew S. McCallion, PhD
Associate Professor

Research Interests:

  • Functional genetics applied to development and disease
  • Transcriptional regulation
  • Genetics of neurological and neural-crest disorders
  • Genetic basis of congenital malformations
Mendell

Joshua Mendell, MD, PhD
Associate Professor

Research Interests:

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

An interview with Dr. Mendell

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
Photo Missing

Michael Parsons, PhD
Assistant Professor

Research Interests:

  • Elucidate the regulation of endocrine differentiation
  • Characterize beta cell regeneration in a model of beta cell ablation
  • Find modifiers of both beta production and increased regeneration
Pandy

Akhilesh Pandey, MD, PhD
Associate Professor

Research Interests:

  • Proteomics
  • Phosphorylation and signal transduction

An interview with Dr. Pandey

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

Research Interests:

  • Mechanisms of gene action in Down syndrome
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

Research Interests:

  • Genetic and pharmacologic modulation of inherited disease
  • X-linked adrenoleukodystrophy: genetics and treatment
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
Steven Steinberg

Steven Steinberg, PhD
Assistant Professor

Thomas

George H. Thomas, PhD
Professor

Research Interests:

  • Biochemical genetics
  • Inborn errors of metabolism
  • Clinical and molecular cytogenetics

Valle

David Valle, MD
Professor

Research Interests:

  • Clinical, biochemical, and molecular bases of disease
  • Genetic factors in neuropsychiatric disorders
  • 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

Last updated:

11/18/2009

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