Faculty Roster

	Dan Arking, PhD Associate Professor Research Interests: Genetics of complex disease Cardiovascular disease and sudden cardiac death Development and implementation of novel genotyping technologies An interview with Dr. Arking
	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, MD, PhD Associate Professor Research Interests: Complex traits Neuropsychiatric disorders including schizophrenia and Alzheimer disease Linkage & association studies
	Denise Batista, PhD Assistant Professor Research Interests: Classical cytogenetics SNP array Fuorescence in situ hybridization Identification of new microduplication and microdeletion syndromes
	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
	Joann Bodurtha, MD, MPH Professor Research Interests: Genetic communication and education Family history integration in electronic health record and cancer prevention/health promotion Ethical issues in genetic/genomic research and practice Interdisciplinary care and natural history of developmental disabilities Genetic services and public health An interview with Dr. Bodurtha
	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
	Aravinda Chakravarti, PhD Professor Research Interests: Molecular basis of complex disease Genomics Population genetics Computational biology An interview with Dr. Chakravarti
	Barton Childs, MD Professor 29 Feb 1916 - 18 Feb 2010
	Ronald Cohn, MD Associate 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
	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: 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
	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 An interview with Dr. Dietz
	Cheryl DeScipio, PhD Assistant Professor Research Interests: Delineation of cryptic chromosomal rearrangements 6p subtelomere delineation syndrome DNA analysis for subclassification of hydatidiform moles
	Andrew Feinberg, MD, MPH Professor Research Interests: Epigenetics and DNA methylation Genomic imprinting Cancer biology An interview with Dr. Feinberg
	Liliana Florea, PhD Assistant Professor Research Interests: Genome analysis and comparison Altenrative splicing Genome alignment
	John L. Goodier, PhD Instructor Research interests: Biological mechanisms of human retrotransposition Roles retrotransposons play in evolution and disease The subcellular distribution of macromolecules
	Constance Griffin, MD Professor Research Interests: Cytogenetics Cancer genetics
	Meral Gunay-Aygun, MD Associate Professor Research Interests: Ciliopathies Gray platelet syndrome and other platelet organelle formation disorders
	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
	Julie Hoover-Fong, MD, PhD Associate 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
	Haig Kazazian, MD Professor Population genetics of active L1 retrotransposons in humans. Individual differences in retrotransposition capability have global effects on genome diversity and human evolution. A mouse model of human L1 retrotransposition as a tool for insertional mutagenesis and discovery of gene function. The SVA element is a non-autonomous retrotransposon that can cause disease Preclinical trials of AAV-mediated gene therapy of hemophilia A in mice and dogs.
	Steve Leach, PhD 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
	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
	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
	Barbara R. Migeon, MD Professor Research Interests: Molecular basis of X chromosome inactivation Genomic imprinting in human cells Relevance to human disease Sex determination
	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
	Akhilesh Pandey, MD, PhD Associate Professor Research Interests: Proteomics Phosphorylation and signal transduction An interview with Dr. Pandey
	Mihaela Pertea, PhD Assistant Professor Research Interests: Computational gene finding Splice site prediction Sequence motif finding
	Margaret B. Penno, PhD Associate Professor Research Interests: Fibroblast Line Establishment In vitro Lymphocyte Transformation BioRepository Sciences
	Roger Harper Reeves, PhD Professor Research Interests: Mechanisms of gene action in Down syndrome An interview with Dr. Reeves
	Steven Salzberg, PhD Professor Research Interests: Comparative genomics Gene finding Genome sequence assembly Genome evolution Genome sequencing An interview with Dr. Salzberg
	Alan F. Scott, PhD Associate 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 An interview with Dr. Semenza
	Kirby Smith, PhD Professor Research Interests: Genetic and pharmacologic modulation of inherited disease X-linked adrenoleukodystrophy: genetics and treatment
	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, PhD Assistant Professor
	George H. Thomas, PhD Professor Research Interests: Biochemical genetics Inborn errors of metabolism Clinical and molecular cytogenetics
	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
	Hilary Vernon, MD, PhD Assistant Professor Research Interests: Molecular and metabolic pathogenesis of organic acidemias Molecular and metabolic pathogenesis of Barth Syndrome Clinical laboratory biochemical diagnosis
	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