Primary Faculty
Brendan Lee, M.D., Ph.D.
Carlos A. Bacino, M.D.
Associate Professor
Clinical studies in patients with imprinting disorders (Angelman Syndrome), and anthropometric studies in craniofacial disorders
David Bates, Ph.D.
Assistant Professor
Chromosome dynamics, molecular mechanisms of DNA replication, and cell cycle control in E. coli
Arthur L. Beaudet, M.D.
Professor, Chair
Role of epigenetics and genomic imprinting in evolution and disease including Prader-Willi and Angelman syndromes and autism; hepatocyte gene therapy
Hugo J. Bellen, D.V.M., Ph.D.
Professor
Genetic and molecular analysis of neurotransmitter release, neural development, and neuronal degeneration in Drosophila
John W. Belmont, M.D., Ph.D.
Professor
Structural congenital heart defects including abnormalities in laterality and hypoplastic left heart syndrome; functional studies of Zic3; genetics of human immune responses; medical population genetics
Assistant Professor
Genomics and population genetics; genetics of infectious disease; genetics of metabolic disease
Juan Botas, Ph.D.
Professor
Comparative analysis of pathogenic mechanisms in neurodegenerative disorders. Screens for common 'drugable' targets
Chester Brown, M.D., Ph.D.
Assistant Professor
TGF-beta superfamily signaling: roles in obesity, diabetes and metabolism, embryonic development, and reproduction
Nicola Brunetti-Pierri, M.D.
Assistant Professor
Gene therapy for inborn errors of liver metabolism and for lysosomal storage disorders
Rui Chen, Ph.D.
Assistant Professor
Functional genomics of visual system development and diseases; High throughput technology; Bioinformatics
Sau Wai Cheung, Ph.D., M.B.A.
Professor
Clinical Cytogenetics; Preimplantation Genetic Screening; Chromosomal Microarray Analysis (Clinical utility of aCGH)
William J. Craigen, M.D., Ph.D.
Associate Professor
Regulation of cellular energy metabolism; mouse models of metabolic diseases
Herman A. Dierick, M.D.
Assistant Professor
Genetic and neurobiological mechanism of Drosophila aggression
Christine M. Eng, M.D.
Professor
Natural history, molecular genetics, and treatment of lysosomal storage disorders; genetic testing for inherited diseases
Richard A. Gibbs, Ph.D.
Professor
Genome Science, human molecular evolution, molecular basis of inherited disease
Brett Graham, M.D., Ph.D.
Assistant Professor
Genetics of inborn errors of metabolism; genetic models of mitochondrial disease in Drosophila and mice
Andy Groves, Ph.D.
Associate Professor
The development, evolution and regeneration of the inner ear
Katrina Gwinn, M.D.
Associate Professor, Vice Chair of Research
My goal is to interact regularly and frequently with departmental faculty at all levels, in order to serve them in their efforts to secure, and continue, research funding for their work
Philip J. Hastings, Ph.D.
Professor
Mechanism of amplification and genome instability in Escherichia coli
Xiangwei He, Ph.D.
Assistant Professor
Mechanisms of chromosome segregation: kinetochores, spindle, fission yeast
Christophe Herman, Ph.D.
Assistant Professor
Regulation of cellular processes and quality control by chaperones and proteases involved in folding diseases including paraplegia
Gregory Ira, Ph.D.
Assistant Professor
DNA repair, recombination and genome instability. Molecular mechanisms of mitotic DNA recombination
Milan Jamrich, Ph.D.
Professor
Pattern formation in vertebrate embryos; ocular development; gene therapy
Monica Justice, Ph.D.
Professor
Molecular genetic analysis of hematopoiesis; cancer genetics; mouse models of human disease
Richard L. Kelley, Ph.D.
Associate Professor
Dosage compensation in Drosophila; targeting chromatin modifications with noncoding RNAs
David L. Nelson, Ph.D.
Seema Lalani, M.D.
Assistant Professor
Molecular basis of CHARGE syndrome; Use of array-based comparative genomic hybridization to study the genetic basis of congenital heart defects
Suzanne M. Leal, Ph.D.
Professor
Statistical genetics; genetic epidemiology; gene mapping and identification; nonsyndromic hearing loss
Brendan Lee, M.D., Ph.D.
Professor
Developmental genetics of the skeleton and human skeletal dysplasias; development of helper-dependent adenoviral gene therapy for immune modulation, inborn errors of metabolism, and skeletal diseases; Clinical research into the diagnosis, intervention, and treatment of metabolic and skeletal diseases
Jae W. Lee, Ph.D.
Associate Professor
Transcriptional regulatory network in hypothalamic neurons controlling energy homeostasis; histone modifying transcriptional co-regulators in metabolism and CNS development
Soo-Kyung Lee, Ph.D.
Assistant Professor
Transcriptional regulatory network in CNS development
Olivier Lichtarge, M.D., Ph.D.
Professor
Bioinformatic, structural, and evolutionary studies of structure-function to uncover the molecular basis of protein interactions and engineer cellular pathways
James R. Lupski, M.D., Ph.D.
Professor, Vice Chair
Molecular genetics of Charcot-Marie-Tooth disease and related inherited neuropathies; molecular mechanisms for human DNA rearrangements; genomic disorders; copy number variation (CNV) and disease
Graeme Mardon, Ph.D.
Professor
Retinal cell fate determination, development, and function in Drosophila and vertebrates
Michael L. Metzker, Ph.D.
Associate Professor
Genetic screening of juvenile diabetics; technology development of minature DNA sequencing devices; characterization of HIV-1 drug resistance using novel reagents; fluorescent technology development for existing and novel DNA sequencing strategies
Aleksandar Milosavljevic, Ph.D.
Associate Professor
Genomics, cancer genomics, epigenomics, and bioinformatics
David L. Nelson, Ph.D.
Professor
Human genome and disease gene analysis; fragile X syndrome; incontinentia pigmenti; complex genetics
Philip Ng, Ph.D.
Assistant Professor
Liver and lung gene therapy
William E. O'Brien, Ph.D.
Professor
Inborn errors of metabolism; arginine metabolism; using genetic models to understand the role(s) of nitric oxide
Ankita Patel, Ph.D.
Assistant Professor
Clinical cytogenetics; development of new diagnostic technologies for cytogenetics
Richard E. Paylor, Ph.D.
Professor
Behavioral analyses of mutant mouse models of developmental and neurodegenerative disorders
Lorraine Potocki, M.D.
Associate Professor
Clinical characterization of selected genomic disorders; medical education in genetics
Antony Rodriguez, Ph.D.
Assistant Professor
Molecular genetics of mammalian microRNAs
Jeffrey Rogers, Ph.D.
Associate Professor
Genetic analysis of nonhuman primate models of human disease, especially psychiatric diseases; comparative primate genomics
Susan M. Rosenberg, Ph.D.
Professor
Molecular mechanisms of genome instability in evolution, antibiotic resistance, and cancer
Christian Rosenmund, Ph.D.
Professor
Molecular mechanisms of central synapse function, heterogeneity, and plasticity
Fernando Scaglia, M.D.
Associate Professor
Molecular bases of mental retardation in mitochondrial encephalomyopathies; stable isotope studies to help in the diagnosis and management of urea cycle disorders and maple syrup urine disease; clinical and molecular studies of cerebral folate deficiency
Daryl Scott, M.D., Ph.D.
Assistant Professor
Genes responsible for common birth defects and microdeletion/microduplication syndromes: congenital diaphragmatic hernia, esophageal atresia/tracheoesophageal fistula, and 1p36 deletion syndrome
Gad Shaulsky, Ph.D.
Professor, Director of Graduate Program
Developmental genetics, evolution of sociality and functional genomics in Dictyostelium
Chad Shaw, Ph.D.
Assistant Professor
Devising new statistical methods for genome scale data using a systems biology approach
Pawel Stankiewicz, M.D., Ph.D.
Assistant Professor
Molecular mechanisms and clinical consequences of genomic rearrangements
V. Reid Sutton, M.D.
Associate Professor
Aicardi syndrome, Focal Dermal Hypoplasia (Goltz syndrome), skeletal dysplasias (Osteogenesis Imperfecta), and inborn errors of metabolism
Graeme Mardon, Ph.D.
Jue D. Wang, Ph.D.
Assistant Professor
Regulation of DNA replication and maintenance of genomic stability in bacteria
Thomas (Trey) Westbrook, Ph.D.
Assistant Professor
RNAi-based strategies to cancer gene discovery; REST tumor suppressor pathway
Lee-Jun C. Wong, Ph.D.
Professor
Mitochondrial genetics and function in human diseases, cancer, and aging
Hui Zheng, Ph.D.
Professor
Molecular genetics of Alzheimer’s disease
Huda Y. Zoghbi, M.D.
Professor
Molecular basis of neurodegenerative and neurodevelopmental disorders; nervous system development