Primary Faculty

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.
Daniela Del Gaudio, Ph.D.
Assistant Professor
My interests are primarily focused towards translational medicine, specifically the application of novel molecular approaches to the diagnosis of genetic disorders.
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.
Yoav Gilad, Ph.D.
One of the main challenges for geneticists in the 'post-genome' era is to understand the genetic architecture of gene regulation and how differences in gene regulation affect complex phenotypes, including human diseases. While many groups are studying gene regulatory mechanisms in model organisms, we reasoned that, although more challenging, the study of gene regulation in primates may carry rewards that are immediately applicable to humans. By collecting valuable samples, developing and adapting new technologies, and combining expertise in evolutionary biology, comparative genetics, and genomics, our lab has made key contributions to the study of gene regulation in humans.
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.
Xin He, Ph.D.
Assistant Professor
Our lab uses computational approaches to study the genetics of human diseases. A primary focus of our research is to develop novel tools for mapping risk genes of complex diseases in association and family studies. We are also interested in related questions, such as how to predict functional significance of DNA mutations and how genes and environmental factors together influence disease risks. A key feature of our strategy is the integration of multiple genomic datasets, such as transcriptome data and biological networks. We aim to put DNA variations in the context of gene interactions and regulatory networks to better understand the mechanisms of diseases.
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.
Zejuan Li, M.D. Ph.D.
Assistant Professor
My research interest focuses on translating knowledge from basic research to clinical diagnosis and particularly, in developing and testing cutting edge technologies to incorporate advanced sequencing platforms, materials and techniques to improve the range of genetic and genomic services that can be offered to patients. I am also interested in illustrating genetic and epigenetic changes in protein-coding and non-coding genes in cancers (especially, inherited cancers) and orphan genetic disease in order to understand the underlying pathological mechanisms, identifying new genetic and epigenetic markers for diagnosis and treatment, and developing more effective therapeutic strategies to treat patients.
Jason Lieb, Ph.D.
The Lieb lab is committed to understanding how information is encoded, maintained, and dynamically utilized in living eukaryotic genomes. To this end, the projects in the laboratory seek to understand relationships between DNA packaging (chromatin), the targeting of regulatory proteins such as transcription factors to specific genomic targets, and the mechanism by which these regulatory proteins exert their influence on DNA-dependent enzymes. We also aim to identify and characterize areas of the genome that serve to regulate chromosomal functions, including transcription, DNA replication and repair, recombination, and chromosome segregation.
Vincent J. Lynch, Ph.D.
Assistant Professor
A major challenge in biology is discovering the genetic mechanisms that underlie the origin and evolution of complex traits. While it’s clear that changes in gene regulation are ultimately responsible for the development and evolution of complex characters, we are only just beginning to understand the molecular mechanisms of gene regulatory evolution. The goal of our research program is to develop a complete mechanistic and historical explanation for how morphological characters evolve, focusing on the mechanisms of gene regulatory evolution. To answer these questions we integrate functional genomics and experimental methods to deduce the molecular mechanisms of developmental evolution.
Marcelo Nobrega, Ph.D.
Associate Professor
Our group is interested in dissecting the architecture and function of genes and their regulatory networks. We investigate how the multiple transcriptional enhancers, repressors, and boundary elements connected to a gene interact and orchestrate the precise tissue-specific and temporal-specific expression pattern of that gene.
John Novembre, Ph.D.
Associate Professor
Human genetic variation is both a puzzle to be understood and a tool to be leveraged in understanding human disease. My research group uses computational approaches to answer questions regarding the processes that have shaped human genetic diversity. The fundamental questions we address regard the basic characteristics of human genetic diversity at global and local scales, and what such variation implies about the human evolutionary past and disease. To address these questions, we develop and test computational methods for population genetic analysis and apply these methods to large-scale data.
Carole Ober, Ph.D.
The overarching goals of my laboratory are to identify genetic variants that influence gene expression in tissues relevant to complex phenotypes and common diseases, in particular those related to , chronic rhinosinutsitis (CRS), and fertility and parturition. To this end we are using both freshly isolated cells and tissues and cell culture models of gene-environment interactions to dissect the genetic architecture of common diseases. Our studies are conducted in founder populations, the Hutterites of South Dakota and the Amish or northern Indiana, in U.S. and European birth cohorts, and in patient populations from Chicago.
Abraham Palmer, Ph.D.
Associate Professor
My laboratory uses genetic tools to understand behavior. One main objective of the lab is to use Genome Wide Association Studies (GWAS) in mice and rats to identify novel genes that modulate behavior. Additionally, we attempt to understand the mechanism by which these genes influence behavior by performing mechanistic studies using both pharmacological and genetic tools. Finally, we are also involved in human genetic studies of endophenotypes, many of which have direct parallels in animal models and can serve as a bridge between human disease phenotypes and rodent behavioral models.
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.
Joe Thornton, Ph.D.
We study the mechanisms and dynamics by which genes and the proteins they code for evolved their diverse functions. We employ a synthesis of evolutionary and phylogenetic techniques with functional molecular biology and biochemistry. Our current model system is a gene family of great biological and biomedical importance.
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 interested in developing new and unique curriculum for integrating genetics into the four years of the medical school training and residency programs.
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.
Huntington F. Willard, Ph.D.
Professor Department of Human Genetics University of Chicago
Our research interests include the organization and evolution of complex genomes in a wide range of organisms, exploring novel sequences and their influences on genome function and adaptation.

Secondary Faculty

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.
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.
D. Allan Drummond, Ph.D.
Assistant Professor
Protein misfolding, unfolded protein responses, and translational fidelity.
Elliot Gershon, M.D.
We study genetics and genomics of neuropsychiatric disease and their treatments. Our current interests are in functional genomics of human brain in psychiatric disorders and controls, bioinformatic and network analysis of genes associated with psychiatric disorders and with differential expression in brain in psychiatric disorders, and rare variants and somatic mutations associated with psychiatric disorders. We are also doing studies of pharmacogenomics of treatment response in Bipolar disorder.
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.
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.
Mary Sara McPeek, Ph.D.
My research focuses on applications of probability and statistics to genetics and molecular biology.
Ivan Moskowitz, M.D. Ph.D.
Associate Professor
The Moskowitz laboratory is devoted to the genetic, genomic and molecular study of cardiac development and function in an effort to understand the mechanistic basis of defects in cardiac form and function in humans.
Dan L. Nicolae, Ph.D.
My research focus is on developing statistical and computational methods for understanding the human genetic variation and its influence on the risk for complex traits. In applications, we concentrate on finding the genetic and environmental components of asthma, inflammatory bowel disease, and diabetic complications.
Olufunmilayo Olopade, M.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.
Brandon L. Pierce, Ph.D., M.S.
Assistant Professor, Department of Health Studies
My research focuses on the interrelated roles of genetic, molecular, and environmental factors in cancer risk and prognosis. My group works on several topics, including (1) telomere length as a biomarker of aging and cancer risk, (2) genetic susceptibility to the effects of environmental exposure to arsenic, a known carcinogen, and (3) methods development for estimating causal relationships and testing interactions among risk factors, biomarkers, and disease.
Andrey Rzhetsky, Ph.D.
My main interest is in (asymptotic) understanding how phenotypes, such as human healthy diversity and maladies, are implemented at the level of genes and networks of interacting molecules.

Research Associates

Mark Abney, Ph.D.
Research Associate (Associate Professor)
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.
Natalia Maltsev, M.D., Ph.D.
Research Associate (Professor)
My major scientific interest is the development of the approaches for representation and analysis of complex biological systems and how these approaches can be applied to the discovery of the molecular mechanisms contributing to complex heritable disorders.