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Genetics of DiseasePlease note: Words in italics are the official PIBS affiliations of the indicated faculty. Goncalo Abecasis, Ph.D Development and application of statistical methods for complex trait gene identification. Active research areas include mental disorders and aging-related diseases. Biostatistics. Bioinformatics. Radha Ayyagari, Ph.D Molecular genetics of retinal and macular degenerations and understanding the mechanism underlying the degeneration process. Cell and Developmental Biology. Ophthalmology and visual sciences. Scott Barolo, Ph.D. Molecular genetics and biochemistry of transcriptional regulation; structure/function analysis of signaling pathway-regulated enhancers, using Drosophila as a model system. Cell & Developmental Biology.
Margit Burmeister, Ph.D. Gene mapping; genetics of neurological,
psychiatric, and behavioral disorders; mouse models; genome organization.
Human Genetics. Neuroscience. Bioinformatics Sally A. Camper, Ph.D. Developmental genetics of the neuroendocrine system; transgenic mice; gene targeting; pituitary dwarfism. Human Genetics. Bioinformatics. Cellular & Molecular Biology. Neuroscience. Thomas Carey, Ph.D. Genetic mechanisms in head and neck cancer progression; genetic mechanisms affecting response to therapy; and mechanisms of autoimmune hearing loss mediated by antibodies to inner ear antigens. Cellular & Molecular Biology. Pharmacology.
Arul M. Chinnaiyan, M.D., Ph.D. Focus on high-throughput genomic
and proteomic technologies to analyze human disease. Lab projects include
molecular profiling of prostate cancer, profiling cancer with protein
microarrays, and molecular signatures of sepsis. Bioinformatics.
Molecular and Cellular Pathology.
Kathleen R. Cho, MD Molecular pathogenesis of the common gynecological
tumors (carcinomas of the ovary, enometrium and uterine cervix). Current
lab projects include molecular profiling of ovarian and cervical carcinomas
and analysis of Wnt signaling pathway defects in ovarian endometrioid
adenocarcinomas. Molecular and Cellular Pathology. Andrzej Dlugosz, M.D. Hedgehog signaling; molecular regulation of skin development and tumorigenesis. Cellular & Molecular Biology. Julie A. Douglas, Ph.D. Statistical genetics. Statistical genetics. Genetic mapping of complex human diseases and traits with an emphasis on the development, application, and evaluation of statistical methods. Human Genetics. Bioinformatics. Daniel Eitzman, M.D. Our lab studies genetic determinants of thrombosis and atherosclerosis using murine models. Cellular & Molecular Biology. James T. Elder, M.D., Ph.D. Genetics of psoriasis; regulation of keratinocyte growth and differentiation. Cellular & Molecular Biology. Doug Engel,
Ph.D. Molecular genetics of mammalian organ specification and differentiation.
Cell & Developmental Biology. Cellular & Molecular Biology.
Eric R. Fearon, MD, Ph.D. Molecular genetics of cancer; tumor suppressor
gene function. Cellular & Molecular Biology. Human Genetics.
Molecular and Cellular Pathology. David Ferguson, M.D., Ph.D. How DNA repair prevents cancer, provides immuno-competence, and ensures proper overall development. Molecular and Cellular Pathology. John Fink, MD Genetic analysis of inherited neurologic and psychiatric disorders. Molecular and Chemical Neuroscience. Neuroscience. Philip Gage,
Ph.D. Genetic analysis of mammalian eye development; cell fate
decisions in neural crest and mesoderm, transgenic mice, and gene
targeted mice. Cellular & Molecular Biology, Cell & Developmental
Biology David Ginsburg, MD Molecular genetics of the blood coagulation system. Human Genetics. Cellular & Molecular Biology. Thomas M. Glaser, MD, Ph.D. Genetic analysis of mammalian eye development. Human Genetics. Thomas W. Glover, Ph.D. Molecular cytogenetics and the molecular biology of human disease; gene mapping; Menkes syndrome; fragile sites. Human Genetics. Cellular & Molecular Biology. Deborah L. Gumucio, Ph.D. Regulation of globin genes in transgenic mice. Potential to impact the treatment of Sickle Cell anemia and beta thalassemia. Molecular factors that control development of the intestine. Factors that regulate this program may be the same factors that are involved in the development of intestinal metaplasias in stomach and esophagus. Metaplasias are precursors to cancer. Cell & Developmental Biology. Cellular & Molecular Biology. Gary D. Hammer, MD, Ph.D. Molecular mechanisms of stress. Adrenal cortical growth and differentiation. Transcriptional regulation by adrenal-specific nuclear receptors-transcription factors. Adrenal cortical carcinogenesis. Transgenic models of adrenal development and disease. Molecular & Integrative Physiology. Cellular & Molecular Biology. Jay Hess, M.D., Ph.D. Mechanisms of transformation by the mixed lineage leukemia protein and its downstream targets, the clustered (Hox) genes. Molecular and Cellular Pathology. Cellular & Molecular Biology. Michael Hortsch, Ph.D. Role of cell adhesion molecules in neuronal differentiation of Drosophila. Cell & Developmental Biology. Neuroscience. Jeffrey W. Innis, MD, Ph.D. Molecular genetics of mammalian limb development; HOX gene function. Human Genetics. Bioinformatics. Catherine E. Keegan, MD, PhD. Mouse models of telomere dysfunction, genomic instability, and birth defects. Molecular genetics of caudal and urogenital development. Cellular & Molecular Biology. Pediatric Genetics. David Kohrman, Ph.D. Molecular genetics of inner ear structure and function, including analysis of the molecular basis of hearing loss and vestibular dysfunction in mice and humans. Human Genetics. Jun Li, Ph.D. Genetic studies of complex human diseases, including psychiatric disorders, heart disease, and cancer, with emphases on genetic influence of gene expression, population structure, DNA copy number variation (either inherited or somatic), and application of next-generation sequencing methods to related problems. Human Genetics. Cellular & Molecular Biology. Bioinformatics. Jiandie Lin, Ph.D. - Genome-wide mapping and functional analysis of transcriptional networks in the control metabolism in cells and in vivo. Metabolic basis of diseases including obesity, type 2 diabetes, neurodegeneration and cancer. Cell & Developmental Biology. Life Sciences Institute. Margaret I. Lomax, Ph.D. Molecular biology of mitochondrial cytochrome c oxidase and recombinant DNA. Cell & Developmental Biology. Jill A. Macoska, Ph.D. Genetic and cellular changes associated with early neoplastic transformation. Bioinformatics. Cellular & Molecular Biology. Urology. Sami Malek, M.D. Hematological malignancies including CLL, Follicular Lymphoma, MDS and AML using a variety of approaches. Many questions intersect with standard immunological problems and are studied accordingly. Internal Medicine. Immunology. Donna Martin, M.D., Ph.D. Genetic control of neuronal differentiation. Neuroscience, Human Genetics. Miriam H. Meisler, Ph.D. Human and mouse disease gene isolation and mutation detection; disease gene isolation neurogenetics; comparative genomics; genetics of sodium and calcium channels expressed in the nervous system. Neuroscience. Human Genetics. Cellular & Molecular Biology. Molecular & Integrative Physiology. Juanita L. Merchant, MD, Ph.D. Molecular mechanisms of gastric epithelial cell growth; growth factor regulation of normal and neoplastic growth; transcriptional control of gastrointestinal peptides; posttranslational modifications of transcription factors; transgenic models for stomach development; Helicobacter pylori and peptic ulcer; gastric cancer development. Cellular & Molecular Biology. Molecular & Integrative Physiology. Daniel
Michele, PhD Molecular & Integrative Physiology Molecular mechanisms
of human cardiomyopathies and skeletal myopathies, with a focus on muscular
dystrophy, using mouse models. Extracellular matrix receptors in central
nervous system development and muscle Richard
A. Miller, MD, Ph.D. Signal transduction in T cells; aging and T-cell
subsets; immunology of aging; genetics of longevity. Pathology. Cellular
& Molecular Biology. Immunology. John Moran, Ph.D. Molecular analysis of human and mouse retrotransposons. Characterization of a novel retrotransposition mechanism. Studies of how transposable elements influence genomic diversity. Exploitation of human and mouse retrotransposons as genetic tools. Human Genetics. Richard Neubig, MD, Ph.D.
Molecular mechanisms of signal transduction; spectroscopic and rapid
kinetic studies of receptors, G proteins and their regulators; NMR structure
of receptor and G-protein peptides; mechanism of alpha-adrenergic receptors.
Bioinformatics. Biophysics. Pharmacology. Gabriel Nuñez, MD Molecular regulation of programmed cell death (apoptosis); identification and characterization of apoptosis regulatory genes. Cellular & Molecular Biology. Molecular and Cellular Pathology. Microbiology & Immunology. Elizabeth M. Petty, MD Molecular genetics of solid tumor development; translation of molecular genetic discoveries to clinical applications; medical ethics. Cellular & Molecular Biology. Human Genetics. Sem H.
Phan, MD, Ph.D. Mechanisms of fibrosis; myofibroblast biology; regulation
of þ-smooth muscle actin gene expression; eosinophils and cytokines
in pulmonary fibrosis. Molecular and Cellular Pathology. Immunology. Steve Qin, Ph.D. Statistical genetics, disease mapping, computational biology, comparative genomics, functional genomics. Biostatistics. Bioinformatics. Diane M. Robins, Ph.D. Developmental and hormonal regulation of mammalian gene expression. Human Genetics. Cellular & Molecular Biology. Noah Rosenberg, Ph.D. Mathematical models in genetics and evolution, human population genetics, statistical methods for inference of human genetic history, role of human genetic variation in disease-gene mapping, human statistical genetics, genetic variation in pathogens, gene trees and species trees, phylogenetics. Bioinformatics. Human Genetics. Theodora S. Ross, M.D., Ph.D. Genetics and biology of human leukemias by using mouse modeling as well as standard biochemical, molecular biological and cellular techniques. Cellular & Molecular Biology. Liangyou Rui, Ph.D. Molecular mechanisms of obesity and type 2 diabetes. Investigation of molecular mechanisms of insulin/leptin signaling and resistance. Molecular & Integrative Physiology. JoAnn Sekiguchi, Ph.D. Mechanisms of DNA repair and how aberrant repair processes affect genomic stability, predisposition to cancer and immune system development. Human Genetics. Charles F. Sing, Ph.D. Population and quantitative genetics. Human Genetics. Maria S. Soengas, Ph.D. Skin cancer (melanoma) initiation, progression and chemoresistance. Identification of tumor markers and drug response genes. Development of new treatments for aggressive and metastatic melanoma. Cellular & Molecular Biology. Dermatology. Katherine Spindler, Ph.D. Molecular genetics of mouse adenovirus (MAV-1) pathogenesis; host immune response to MAV-1; genetics of host susceptibility to viral infection. Microbiology & Immunology. Cellular & Molecular Biology. Human Genetics. Anand Swaroop, Ph.D. Molecular
genetics of inherited eye diseases; animal models for retinal degeneration;
regulation of development and tissue-specific gene expression; expression
mapping of human genome. Human Genetics. Cellular & Molecular
Biology. Neuroscience. Alice Telesnitsky,
Ph.D. Retrovirus molecular genetics, reverse transcriptase structure-function
studies, HIV-1 and murine leukemia virus genetic recombination and other
mechanisms of genetic variation, virus-host interactions on the cellular
level. Microbiology & Immunology. Cellular & Molecular Biology. Debra A. Thompson, Ph.D. Molecular studies of the function of the mammalian retina, including analysis of the mechanisms controlling signal transduction and tissue-specific gene expression in the retinal pigment epithelium. Biological Chemistry. R. Scott
Turner, MD, Ph.D. Molecular mechanisms of Alzheimer’s disease
using cells and neurons in culture and transgenic mouse models; (beta)
amyloid precursor protein and Alzheimer's disease. Molecular and Chemical
Neuroscience. Neuroscience. Lois Weisman, Ph.D. To uncover mechanisms of organelle inheritance, and to determine how these processes are spatially and temporally regulated. We have discovered that myosin V attaches to membranes via organelle-specific receptors. In addition inheritance requires a newly discovered signaling pathway. Cell & Developmental Biology. Cellular & Molecular Biology. Life Sciences Institute. Deneen M Wellik , Ph.D. How Hox genes function to pattern the mammalian body plan. Focused on kidney and limb development as well as axial skeletal patterning using mouse developmental genetics as our primary model organism. Molecular Medicine & Genetics. Internal Medicine. Cell & Developmental Biology. Matthew J. Wishart, Ph.D. Mechanisms of action for protein- and lipid-phosphatases; STYX / dead-phosphatase adapters and phosphorylation-mediated signaling; molecular mechanisms of mammalian reproduction. Molecular & Integrative Physiology. Yuan Zhu, Ph.D. Molecular genetics of disease, the role of tumor suppressor genes in neural development and tumorigenesis in the nervous system. Cell & Developmental Biology. |
