Primary Faculty

Soma Das, Ph.D

Professor

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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.


Anna Di Rienzo, Ph.D.

Professor

Lab Webpage

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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Yoav Gilad, Ph.D.

Professor

 Lab Webpage 

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.

Professor

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

Lab Webpage

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.

Professor

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

Lab Webpage

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.


Vincent J. Lynch, Ph.D.

Vincent J. Lynch, Ph.D.
Assistant Professor

Lab Webpage 

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, M.D. Ph.D.

Professor

Lab Webpage

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

Lab Webpage 

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.

Professor, Chair of the Department of Human Genetics

Lab Webpage 

The research goals of my laboratory are to identify genetic variants that influence methylation and gene expression in tissues relevant to complex phenotypes and common diseases, in particular those related to asthma, 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 of northern Indiana, in U.S. and European birth cohorts, and in patient populations from Chicago.


Matthew Stephens, Ph.D.

Professor

Lab Webpage 

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.

Professor

 Lab Webpage

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.

Professor

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.

Professor
On leave 3.01.17 through 3.31.18

 Lab Webpage

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.