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, PhD
James V Neel Legacy Professor of Human Genetics
Professor of Human Genetics
Chair, Department of Human Genetics
Professor of Neurology, Medical School
Professor of Human Genetics
Chair, Department of Human Genetics
Professor of Neurology, Medical School
Stephanie Bielas, PhD
Morton S and Henrietta K Sellner Professor of Human Genetics
Professor of Human Genetics
Professor of Pediatrics
Professor of Human Genetics
Professor of Pediatrics
David T Burke, PhD
Professor of Human Genetics, Medical School
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, Medical School
Program Director, Bioinformatics Graduate Program
Professor of Human Genetics
Professor of Psychiatry
Research Professor, Michigan Neuroscience Institute
Professor of Computational Medicine and Bioinformatics, Medical School
Sally A Camper, PhD
Margery Shaw Distinguished University Professor Emerita of Human Genetics and Internal Medicine
Professor Emerita of Human Genetics
Professor Emerita of Internal Medicine, Medical School
Professor Emerita of Human Genetics
Professor Emerita of Internal Medicine, Medical School
Santhi K Ganesh, MD
Professor of Cardiovascular Medicine
Professor of Internal Medicine
Professor of Human Genetics
Program Director, Internal Medicine, Medical School
Professor of Internal Medicine
Professor of Human Genetics
Program Director, Internal Medicine, Medical School
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
Medical School and Research Professor, Life Sciences Institute
Warner-Lambert/Parke-Davis Professor of Medicine
Professor of Internal Medicine
Professor of Human Genetics
Professor of Pediatrics
Medical School and Research Professor, Life Sciences Institute
Thomas Glover, PhD, FACMG
Professor of Human Genetics
Professor of Pediatrics
Professor of Pathology, Medical School
Professor of Pediatrics
Professor of Pathology, Medical School
Michelle J Hays, PhD
Assistant Professor of Human Genetics, Medical School
Shigeki Iwase, PhD
Professor of Human Genetics
Professor of Pediatrics, Medical School
Professor of Pediatrics, Medical School
Catherine Elizabeth Harnden Keegan, MD, PhD
Charles E Lytle, Jr Research Professor of Pediatrics
Professor of Pediatrics
Division Director of Pediatric Genetics Metabolism and Genomic Medicine
Professor of Human Genetics
Program Director, Combined Medical Genetics and Genomics-Pediatrics and Medical Genetics and Genomics Residencies
Medical School
Professor of Pediatrics
Division Director of Pediatric Genetics Metabolism and Genomic Medicine
Professor of Human Genetics
Program Director, Combined Medical Genetics and Genomics-Pediatrics and Medical Genetics and Genomics Residencies
Medical School
Jacob Kitzman, PhD
Professor of Human Genetics
Professor of Computational Medicine and Bioinformatics, Medical School
Professor of Computational Medicine and Bioinformatics, Medical School
Kenneth Kwan, PhD
Associate Professor of Human Genetics
Research Associate Professor, Michigan Neuroscience Institute, Medical School
Research Associate Professor, Michigan Neuroscience Institute, Medical School
Donna M Martin, MD, PhD
Ravitz Foundation Endowed Professor of Pediatrics
Chair, Department of Pediatrics
Professor of Pediatrics and Professor of Human Genetics, Medical School
Chair, Department of Pediatrics
Professor of Pediatrics and Professor of Human Genetics, Medical School
Hayley S McLoughlin, PhD
Associate Professor of Neurology
Associate Professor of Human Genetics
Associate Director Academic Program, PIBS, Medical School
Associate Professor of Human Genetics
Associate Director Academic Program, PIBS, Medical School
Miriam H Meisler, PhD
Myron Levine Distinguished University Professor of Human Genetics
Professor of Human Genetics
Professor of Neurology, Medical School
Professor of Human Genetics
Professor of Neurology, Medical School
Stephanie Moon, PhD
Assistant Professor of Human Genetics, Medical School
Xander Nuttle, PhD
Assistant Professor of Human Genetics, Medical School
Lev Prasov, MD, PhD
Paul R Lichter Professor of Ophthalmic Genetics
Associate Professor of Ophthalmology and Visual Sciences
Associate Professor of Human Genetics, Medical School
Associate Professor of Ophthalmology and Visual Sciences
Associate Professor of Human Genetics, Medical School
JoAnn M Sekiguchi, PhD
Associate Professor of Internal Medicine
Associate Professor of Human Genetics
Program Director, Human Genetics, Medical School
Associate Professor of Human Genetics
Program Director, Human Genetics, Medical School
Jordan Shavit, MD, PhD
Henry and Mala Dorfman Family Professor of Pediatric Hematology/Oncology
Professor of Pediatrics
Professor of Human Genetics
Medical School and Program Associate, Frankel CVC Admin
Professor of Pediatrics
Professor of Human Genetics
Medical School and Program Associate, Frankel CVC Admin
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
Professor of Human Genetics, Medical School
Professor of Neurology
Associate Chair for Research, Department of Neurology
Medical Director, Neurology
Professor of Human Genetics, Medical School
