diagram of disrupted intricacy of H3K4me regulation
Molecular Basis of Mendelian Disorders

A Mendelian trait is an inherited phenotype influenced by a single locus. Perturbations of these loci can result in pathogenic phenotypes, referred to as Mendelian disorders. Studying these perturbations in model systems can elucidate the underlying genetic mechanism of the trait, providing insight into how the locus functions in the pathophysiology of the disorder. 

Human Genetics faculty research focuses on identifying and functionally validating novel disease genes using a variety of model systems including yeast, zebrafish, mouse, and human populations. 

Please browse the profiles of the faculty members below to explore the research of individual laboratories.

Principal Investigators
Anthony Antonellis headshot Anthony Antonellis
James V Neel Collegiate Professor of Human Genetics
Professor of Human Genetics
Chair, Department of Human Genetics
Professor of Neurology
Stephanie Bielas Stephanie Bielas, PhD
Morton S and Henrietta K Sellner Professor of Human Genetics
Associate Professor of Human Genetics
Associate Chair, Department of Human Genetics
Associate Professor of Pediatrics
David T. Burke, PhD David T Burke
Professor of Human Genetics
Assistant Professor of Biology
Associate Professor of Chemistry
Research Scientist in Physics
Senior Lecturer in Mathematics
MPHOTO-HumnGeneticsHdsGrps24(130) Margit Burmeister, PhD
Associate Chair, Department of Computational Medicine and Bioinformatics
Program Director, Bioinformatics Graduate Program
Professor of Human Genetics
Professor of Psychiatry
Research Professor, Michigan Neuroscience Institute
Professor of Computational Medicine and Bioinformatics
Sally Camper Sally A Camper
Margery Shaw Distinguished University Professor of Human Genetics and Internal Medicine
Professor of Human Genetics
Professor of Internal Medicine
ganesh-santhi Santhi K Ganesh
David J Pinsky M.D. Professor in Cardiovascular Medicine
Professor of Internal Medicine
Professor of Human Genetics and Program Director, Internal Medicine
David Ginsburg headshot David Ginsburg
James V Neel Distinguished University Professor of Internal Medicine and Human Genetics
Warner-Lambert/Parke-Davis Professor of Medicine
Professor of Internal Medicine
Professor of Human Genetics
Professor of Pediatrics
Research Professor, Life Sciences Institute
Tom-Glover_Full-Size.jpg Thomas W Glover
Professor of Human Genetics
Professor of Pediatrics
Professor of Pathology
Shigeki Iwase Shigeki Iwase PhD
Associate Professor of Human Genetics and Associate Professor of Pediatrics
Catherine Elizabeth Keegan, MD, PhD Catherine Elizabeth Harnden Keegan, MD, PhD
Charles E Lytle, Jr Research Professor of Pediatrics
Professor of Pediatrics
Section Head of Pediatric Genetics Metabolism, and Genomic Medicine
Professor of Human Genetics
Fellowship Director, Pediatric Medical Biochemical Genetics
Residency Director, Pediatric Medical Genetics and Genomics
Jacob Kitzman headshot Jacob Kitzman, PhD
Associate Professor of Human Genetics
Associate Professor of Computational Medicine and Bioinformatics
user Kenneth Kwan Kenneth Kwan
Associate Professor of Human Genetics and Research
Associate Professor
Michigan Neuroscience Institute
profile-donna-martin-2015 Donna M Martin
Ravitz Foundation Endowed Professor of Pediatrics
Chair, Department of Pediatrics
Professor of Pediatrics and Professor of Human Genetics
MPHOTO-HumnGeneticsHdsGrps24(323) Hayley S McLoughlin, PhD
Assistant Professor of Neurology
Assistant Professor of Human Genetics
HumanGenStffHdsGrps22(212) Miriam H Meisler
Myron Levine Distinguished University Professor of Human Genetics
Professor of Human Genetics
Professor of Neurology
S_Moon.jpg Stephanie L Moon
Assistant Professor of Human Genetics
Xander Nuttle Xander Nuttle
Assistant Professor of Human Genetics
Lev Prasov Lev Prasov
Assistant Professor of Ophthalmology and Visual Sciences
Assistant Professor of Human Genetics
JoAnn Sekiguchi JoAnn M Sekiguchi
Associate Professor of Internal Medicine
Associate Professor of Human Genetics
Associate Chair
Department of Human Genetics and Program Director
Human Genetics
Jordan Shavit, MD, PhD Jordan Shavit
Henry and Mala Dorfman Family Professor of Pediatric Hematology/Oncology
Professor of Pediatrics
Professor of Human Genetics
profile-peter-todd-2014 Peter K Todd, MD, PhD
Chester and Anne Alecks Sackett Endowed Professor
Professor of Neurology
Associate Chair for Research
Department of Neurology
Medical Director
Neurology and Professor of Human Genetics