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.