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
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
Medical School
Professor of Human Genetics
Professor of Pediatrics
Medical School
David T Burke
Professor of Human Genetics
Medical School
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 and 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 and Professor of Computational Medicine and Bioinformatics
Medical School
Sally A Camper
Margery Shaw Distinguished University Professor of Human Genetics and Internal Medicine
Professor of Human Genetics
Professor of Internal Medicine
Medical School
Professor of Human Genetics
Professor of Internal Medicine
Medical School
Santhi K Ganesh, MD
David J Pinsky M.D. Professor of Cardiovascular Medicine
Professor of Internal Medicine
Professor of Human Genetics and Program Director
Internal Medicine
Medical School
Professor of Internal Medicine
Professor of Human Genetics and 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 W Glover
Professor of Human Genetics
Professor of Pediatrics
Professor of Pathology
Medical School
Professor of Pediatrics
Professor of Pathology
Medical School
Michelle J Hays
Assistant Professor of Human Genetics
Medical School
Medical School
Shigeki Iwase PhD
Professor of Human Genetics and Professor of Pediatrics
Medical School
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
Fellowship Director, Pediatric Medical Biochemical Genetics
Residency Director, Pediatric Medical Genetics and Genomics
Medical School
Professor of Pediatrics
Division Director of Pediatric Genetics Metabolism, and Genomic Medicine
Professor of Human Genetics
Fellowship Director, Pediatric Medical Biochemical Genetics
Residency Director, Pediatric Medical Genetics and Genomics
Medical School
Jacob Kitzman, PhD
Associate Professor of Human Genetics
Associate Chair
Department of Human Genetics and Associate Professor of Computational Medicine and Bioinformatics
Medical School
Associate Chair
Department of Human Genetics and Associate Professor of Computational Medicine and Bioinformatics
Medical School
Kenneth Kwan
Associate Professor of Human Genetics and Research
Associate Professor
Michigan Neuroscience Institute
Medical School
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 and Associate Director Academic Program, PIBS, Medical School
Associate Professor of Human Genetics and Associate Director Academic Program, PIBS, Medical School
Miriam H Meisler
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
Medical School
Xander Nuttle
Assistant Professor of Human Genetics
Medical School
Medical School
Lev Prasov, MD, PhD
Assistant Professor of Ophthalmology and Visual Sciences
Assistant Professor of Human Genetics, Medical School
Assistant Professor of Human Genetics, Medical School
JoAnn Sekiguchi, PhD
Associate Professor of Internal Medicine
Associate Professor of Human Genetics and Program Director
Human Genetics
Medical School
Associate Professor of Human Genetics and 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
Professor of Pediatrics
Professor of Human Genetics
Medical School
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
