Human Genetics and Disease

Human Genetics and Disease


Anindita (Oni) Basu

Assistant Professor, Department of Medicine

Single cell genomics, microfluidics, host-pathogen interaction, drug testing

Graeme-Bell_Profile-624x938Graeme Bell

Professor, Department of Medicine

Genetics of diabetes and other metabolic disorders; development and regeneration of insulin-secreting pancreatic beta cells


bishopDouglas Bishop

Professor, Department of Radiation & Cellular Oncology

Meiotic recombination, recombinational DNA repair in yeast and mammalian cells.


Di RienzoAnna Di Rienzo

Professor, Department of Human Genetics

Amount of patterns of genetic variation in human populations.



3382Eileen Dolan

Professor, Department of Medicine

Pharmacogenetics of anticancer agents.



du_2Wei Du

Professor, Ben May Department for Cancer Research 

Cell cycle, tumor suppressor genes, and development.


Ferguson_ChipEdwin Ferguson

Professor, Department of Molecular Genetics & Cell Biology

Developmental genetics of cell fate specification and stem cell maintenance

_w1FCOdm Yoav Gilad

Professor, Department of Human Genetics

Understanding gene regulatory processes and elucidating the genetic architecture of human-specific traits including disease.


conrad_gilliamConrad Gilliam

Professor, Department of Human Genetics

Our group is generally focused upon identification of genetic determinants of common genetic disorders, with a particular emphasis on neurological and psychiatric genetic disease.



Gomez_ChristopherChristopher Gomez

Professor, Department of Neurobiology

Molecular and cellular mechanisms of neurodegenerative disease — with a focus on the means by which genetic mutations in ion channels or other essential proteins lead to dominantly inherited neurodegenerative diseases.

12709Robert Grossman

Professor, Department of Medicine

Biomedical informatics, data intensive computing, big data, data science, cloud computing, and related areas.


He TCTong-Chuan He

Associate Professor, Department of Surgery 

Molecular biology of bone and soft tissue tumors; BMP and Wnt signaling in stem cells; Regulation of mesenchymal stem cell differentiation; Cancer microenvironment and bone metastasis; Gene therapy and regenerative medicine.

PIXin He

Assistant Professor, Department of Human Genetics

Computational and statistical methods for identification of genes involved in complex diseases and for regulatory genomics.




Hae Kyung Im

Assistant Professor, Department of Medicine

Development of statistical methods to make sense of large amounts of genomic and other high dimensional data. Current focus is in the integration of GWAS and functional genomics studies and prediction of complex traits to understand the biology of complex traits.


kratsios-headshotPaschalis Kratsios

Assistant Professor, Department of Neurobiology

Locomotion is an ancient behavior displayed by vertebrate and invertebrate animals. Despite anatomical differences in the execution of locomotion between species, locomotion invariably relies on the function of a specialized network of neuronal and muscle cells known as the motor circuit. Motor neurons lie at the heart of this circuit and display remarkable diversity based on anatomy, electrophysiology and molecular composition. Decades of research on motor neuron development and function have set the foundation upon which we intend to build and expand our knowledge on the molecular principles governing motor neuron diversity and motor circuit assembly.


stephen_kronStephen Kron

Professor, Department of Molecular Genetics & Cell Biology

Signal transduction, DNA damage checkpoints, cell cycle control, and epigenetic. Technology for proteomics, drug discovery and systems biology.

bruce_lahnBruce Lahn

Professor, Department of Human Genetics

Epigenetic mechanisms of cell fate restriction in stem cell differentiation.


2718Michelle Le Beau

Professor, Department of Medicine

Molecular analysis of recurring chromosomal abnormalities in human tumors; identification of cooperating mutations and genetic pathways leading to transformation.


IMG_1270Vincent Lynch

Assistant Professor, Department of Human Genetics

Vertebrate developmental evolution and gene regulation



McNerneyMeganMegan McNerney

Assistant Professor, Department of Pathology

Our lab studies the genetic abnormalities in myeloid neoplasms, a type of blood cancer. Using a variety of genomic approaches, we determined that a transcription factor gene, CUX1, is deleted in half of patients with poor-risk myeloid neoplasms. We are now determining the function of CUX1 by a combination of in vivo models and functional genomic approaches. The long-term goal is to leverage this information to identify to new treatments for patients with this disease.

Moskowitz,Ivan.sm_Ivan Moskowitz

Associate Professor, Department of Pathology

Molecular genetics of cardiovascular development and congenital heart disease.



Marcelo NobregaMarcelo Nobrega

Assistant Professor, Department of Human Genetics

Genetics of heart development and congenital heart diseases. Genetic engineering of mouse models of human diseases. Genomic organization and gene regulatory architecture. Vertebrate comparative genomics.


Novembre,JohnJohn Novembre

Associate Professor, Department of Human Genetics

Computational approaches to study processes that shape human genetic diversity

Ober head shot_8-2014_1Carole Ober

Professor, Department of Human Genetics

Complex trait genetics; QTL mapping; asthma; fertility




2807Olufunmilayo (Funmi) Olopade

Professor, Department of Medicine

Cancer genetics and epigenetic, molecular genetics of breast and ovarian cancer; genetics of cancer predisposition in diverse populations including BRCA1 and BRCA2 genes, inflammation and cancer.



Popko_BrianBrian Popko

Professor, Department of Neurology

Mouse models in the study of neurological disorders.



rebay_10_06_1Ilaria Rebay

Professor, Ben May Department for Cancer Research

Transcriptional regulatory circuitries in development and disease; Receptor tyrosine kinase signal transduction.



marsha_newMarsha Rosner

Professor, Ben May Department for Cancer Research

Growth factor receptor signaling leading to cell growth, cell differentiation, or cell death.


10517Andrey Rzhetsky

Professor, Department of Medicine

Analysis of complex molecular networks for understanding common phenotypes.



13972Barbara Stranger

Assistant Professor, Department of Medicine

Human population genomics, transcriptome variation, disease genetics, evolution



wu_c_200x193Chung-I Wu

Professor, Department of Ecology & Evolution

Speciation, genomics, evolutionary genetics, molecular population genetics, sexual selection.