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Mark Abney , Ph.D.
My research focuses on problems in statistical and computational genetics. In general, my interests are in developing both new mathematical methods and computational techniques to overcome complex problems in the analysis of genetic data.
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Soma Das , Ph.D.
The work in my laboratory focuses on the molecular diagnosis of human genetic disease. Our interest is in translating knowledge obtained from basic research studies to the diagnostic arena, and in developing tools and implementing new technology to improve the diagnosis of human genetic disease. Another area of interest is diagnostics related to the field of pharmacogenetics. We are also interested in gene methylation analysis and its implication in diagnostics.
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Anna Di Rienzo , Ph.D.
Our group aims to characterize the amount and patterns of genetic variation in human populations, and to elucidate the forces that shape and maintain this variation. In particular, we are interested in understanding the role played by natural selection on genetic variants contributing to the susceptibility to common complex diseases and to drug response phenotypes.
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Di Rienzo Lab Home Page |
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William B. Dobyns , M.D.
Research in our laboratory involves the field of developmental neurogenetics, especially the molecular characterization of human brain malformations. We ascertain children and occasionally adults with brain malformations, obtain appropriate brain imaging studies and other clinical data, obtain DNA and other samples for our laboratory, identify and delineate new malformation syndromes, map and clone genes responsible for human malformation syndromes, and study the role of these genes in normal brain development and function.
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Yoav Gilad , Ph.D.
Our research focuses on inter-primate comparisons at the sequence and expression levels with the long-term goals of identifying genomic regions of functional importance, understanding human gene regulatory processes and elucidating the genetic architecture of human-specific traits. To do so, we are using a novel multi-species DNA microarray to compare expression levels between different primate species without the confounding effect of sequence mismatches on hybridization intensity. Another project in the lab is the study of olfactory receptor (OR) genes in primates.
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T. Conrad Gilliam, Ph.D.
My research focuses on the identification and characterization of heritable mutations that affect the nervous system. Research projects vary from genetic mapping of rare (Mendelian) disease mutations and characterization of their downstream consequences to the study of common heritable disorders using mouse models as well as genomic and bioinformatic approaches.
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Bruce Lahn , Ph.D.
We are a mammalian biology lab interested in two major research topics: 1) evolutionary genetics, especially the genetic basis of human brain evolution, and 2) stem cell biology. Our other research interests include neurogenetics, bioinformatics, and developing technologies for high-throughput functional genomics.
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Lahn Lab Home Page
Bruce Lahn's Web page at the Howard Hughes Medical Institute |
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Kathleen Millen, Ph.D.
We are interested in development of the cerebellum, the primary center of motor coordination in the CNS. We have chosen to study cerebellar pattern formation in the mouse as a paradigm for human congenital cerebellar malformations.We have recently extended our analysis to congenital human cerebellar malformations in an effort to identify further genes that regulate patterning in the developing CNS.
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Marcelo Nobrega, Ph.D.
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Carole Ober, Ph.D.
The major research objectives of my laboratory are to identify genes that influence complex phenotypes, to understand their evolutionary history, and to elucidate how variation in these genes influences function. Our laboratory focuses on phenotypes related to fertility and to common diseases, and are conducted in a founder population, the Hutterites and in outbred patient populations.
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Abraham Palmer, Ph.D.
Genetic variation contributes to individual differences in the risk for a variety of psychiatric and other common diseases. For the common psychiatric diseases, multiple genes work in concert to confer risk, and interact with one another, as well as the environment, to produce the observed phenotype. Identifying these genes, as well as understanding their complex interactions, promises to revolutionize the diagnosis and treatment of psychiatric diseases. Our research uses mice as a model genetic system to identify specific genes that contribute to heritable disorders.
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Jonathan Pritchard, Ph.D.
My research group tackles the following questions. What is the nature and extent of genetic variation within and between human populations? What are the biological and evolutionary processes that have produced the observed patterns of variation? How do genotypes contribute to phenotypes for complex traits (and how can we identify the relevant genetic variants)?
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Pritchard Lab Home Page |
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Molly Przeworski, Ph.D.
Our research focus is the population genetics of humans. Of particular interest are the genetic architecture of human-specific traits, the comparative population history of apes and the determinants of recombination rates.
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Przeworski Lab Home Page |
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Stuart Schwartz, Ph.D.
My lab has been interested in a variety of cytological phenomena and chromosome structure and function including: the formation of chromosomal aberrations, a correlation of phenotype and karyotype and a study of centromere structure and function. We are studying the molecular formation and karyotype-phenotype correlation of two specific chromosomal aberrations; inv dup (15) and deletions of the short arm of chromosome 9 [
del
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Matthew Stephens, Ph.D.
My general interests include Bayesian and computational statistics, particularly when applied to problems in population genetics. Specific interests include:estimating haplotypes from population genotype data (for which I distribute a software package PHASE), developing statistical models for patterns of linkage disequilibrium across multiple loci, and using these patterns to identify recombination hotspots, spatial modelling of allele frequency variation.
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Darrel J. Waggoner, M.D.
I am mostly involved in the clinical aspect of the Department of Human Genetics and am interested in developing research projects from the clinical perspective. I am currently involved in the chromosome 9p deletion project which includes establishing genotype/phenotype correlations. I am interested in developing new and unique curriculum for integrating genetics into the four years of the medical school training and residency programs.
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Kevin White, Ph.D.
The White lab studies the coordinated action of networks of genes that control developmental processes. To build models of the transcriptional networks that control development, we are taking an integrated approach that makes use of gene expression microarrays, large-scale protein-protein and protein-DNA interaction analyses, systematic RNAi analysis and high throughput polymorphism detection.
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Habibul Ahsan , M.D., MMedSc.
Dr. Ahsan’s research interests focus on the interplay between environmental and genetic factors in cancer and exploiting this information in cancer prevention in humans. He published extensively on the molecular epidemiology of carcinogenic effects of arsenic exposure and also on the molecular and genetic epidemiology of hormonal etiology of breast cancer. His ongoing NIH-funded major research projects include: 1) a genome-wide association study to identify novel genes for early-onset breast cancer among 6,000 breast cancer cases and population/sister controls; 2) a prospective cohort study of 15,000 men and women in Bangladesh to investigate the intermediate- and long-term carcinogenic effects of environmental arsenic exposure from drinking water; 3) genetic susceptibility to arsenic-induced pre-malignant skin lesions and skin cancers among 3,000 cases and controls; and 4) a randomized clinical trial of vitamin E and selenium among 6,000 individuals with pre-malignant skin lesions for the prevention of cancers and deaths.
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Graeme Bell, Ph.D.
This laboratory is applying techniques of molecular biology and genetics to problems in medicine. Our major interests is non-insulin-dependent or Type 2 diabetes mellitus (NIDDM). Our working hypothesis is that a relatively small number, perhaps 5-10, of potentially identifiable major genes increase the risk of developing diabetes and that the individual's overall genetic background, together with environmental and lifestyle factors, influences the phenotypic expression of the major susceptibility genes.
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Bell Lab Home Page |
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Nancy Cox, Ph.D.
My laboratory is a computational "dry" lab. Our research focus is on the identification and characterization of genetic variation influencing susceptibility to complex disorders. We work on both the localization of the genetic variation, via linkage studies and linkage disequilibrium mapping, as well as on the analytic component to positional cloning of genes for complex disorders.
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Cox Lab Home Page |
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Richard R. Hudson, Ph.D.
My research concerns primarily the analysis and interpretation of molecular variation within and between populations. The goal is to understand the evolutionary forces that have produced the observed patterns of variation within populations and between species. My work is entirely theoretical, focusing on the stochastic processes relevant to evolution in finite populations in which genetic drift, mutation, migration and selection may all be important.
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Rick Kittles, Ph.D.
Dr. Kittles’ research focus is to formally evaluate genetic mechanisms involved in complex diseases. His work entails understanding how genetic variation is structured across human populations and how that variation contributes to inter-individual variation in disease susceptibility and other phenotypes such as drug response and skin color.Currently his work explores sequence variation within candidate genes in well-characterized populations for prostate and breast cancer, cardiovascular disease, and human pigmentation. His interests also include biological and socio-cultural issues related to “Race” and health disparities and the utility of admixture mapping for genes for common traits and disease in African Americans and Hispanic Americans.
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Michelle Le Beau, Ph.D.
My research interests are: to identify the recurring chromosomal abnormalities in human tumors; to correlate specific chromosomal abnormalities with morphological and clinical features of the neoplastic disease; to identify the genes located at the breakpoints of the recurring abnormalities, and to examine their function in malignant cells; to localize genes to human chromosomes and to examine the location of specific genes relative to the breakpoints of recurring abnormalities in hematopoietic neoplastic diseases; and to examine the relationship of chromosomal fragile sites and cancer-specific breakpoints.
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Elizabeth M. McNally, M.D., Ph.D.
My research interest involves identifying the genes that play a role in the development of cardiomyopthy and muscular dystrophy. I also direct the Cardiovascular Genetics Clinic, a comprehensive program that focuses on diagnosing and treating patients with inherited heart disease.
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Mary Sara McPeek, Ph.D.
My research focuses on applications of probability and statistics to genetics and molecular biology.
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Olufunmilayo Olopade, Ph.D.
My research interests include: treatment of breast cancer, especially in young or pregnant women; familial cancers; molecular genetics of cancer; cancer risk assessment and chemoprevention; breast cancer and minority populations and disparities in health outcomes. Clinical Interests include breast cancer, cancer risk assessment, cancer prevention and general hematology and medical oncology.
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Janet D. Rowley, M.D.
My laboratory is analyzing the genetic consequences of the recurring chromosome abnormalities seen in human leukemia cells. We have cloned several new genes at translocation breakpoints and are investigating how the chromosome rearrangements alter the structure of the genes and how this in turn alters the structure and function of the proteins.
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Andrey Rzhetsky, Ph.D. |
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Marion S. Verp, M.D.
My prenatal and reproductive genetics clinic offers prenatal counseling and testing including amniocentesis, chorionic villus sampling, detailed ultrasound examination, and carrier screening. Couples who have a family history of birth defects or genetic disorders, as well as pregnant women exposed to potentially harmful agents may benefit from genetic counseling in this clinic.
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