Research In The Division of Human Genetics

Although the research areas covered by our faculty are quite broad, Division of Human Genetics-associated investigators are organized into three main interest groups: Genome and Chromosome Biology, Genetics and Genomics of Human Disease, and Genetic Models of Human Disease. A brief list follows, and the links to faculty webpages provide more information on these projects as well as other projects in their laboratories.


Genome and Chromosome Biology

DHG investigators explore the structure and function of the mammalian nucleus and chromosome, as well in simpler eukaryotic chromosomes. Approaches include traditional genetics and molecular cytogenetics, chromosome engineering, genome wide investigations of DNA sequence, chromatin structure, transcription factor binding, and gene expression. Faculty in this area are working in broad topics of genome organization and stability: Greg Crawford (chromatin structure and gene regulatory mechanisms, comparative epigenomics), Raluca Gordan (transcription factor binding sites), Sue Jinks-Robertson (DNA damage repair and recombination in budding yeast), Tom Petes (genome stability, telomeres, meiotic recombination in budding yeast), Tim Reddy (epigenetic control of gene expression), Beth Sullivan (genomics and epigenetics of centromere function, chromosomal stability, human artificial chromosomes).


Genetics and Genomics of Human Disease

DHG investigators apply a variety of experimental approaches, including next generation DNA sequencing, to understand the molecular basis of genetic disease. The sheer breadth of the faculty research interests covers nearly every disease, including: Andrew Allen (statistical methods for complex genetics),  Allison Ashley-Koch (neural tube defects, autism, ADHD, sickle cell disease), Jen-Tsan Ashley Chi (cancer, sickle cell disease), Holly Dressman (cancer), Ornit Chiba-Falek (Alzheimer’s and Parkinson’s disease), Simon Gregory (autism, cardiovascular disease, multiple sclerosis, osteoarthritis), Gentzon Hall (hereditary nephrotic syndrome), Beth Hauser (cardiovascular disease), Mike Hauser (open-angle glaucoma, limb girdle muscular dystrophy, amyotrophic lateral sclerosis), So-Young Kim (cancer), Priya Kishnani (lysosomal storage diseases, glycogen storage diseases), Dennis Ko (Salmonella and other bacterial infections), Dwight Koeberl (gene therapy for glycogen storage diseases), Douglas Marchuk (stroke, vascular anomalies), Hiroaki Matsunami (genetics of chemosensation), Marie McDonald (genetic basis of dysmorphologies, Fabry disease), Tim Reddy (maternal glycemia, fetal adiopocity),  Svati Shah (cardiovascular disease), and Vandana Shashi (birth defects, developmental delay).


Genetic Models of Human Disease

DHG investigators are exploiting the strength of genetically tractable organisms to model and investigate the molecular, cellular and physiological mechanisms of human genetic disease. Model systems include yeast, Drosophila, zebrafish, the laboratory mouse, and cell culture models. Our faculty research in this group include: Nancy Andrews (mouse models iron deficiency, anemia of chronic disease and hemochromatosis), Jorn Coers (mouse models of Chlamydia and Legionella infections and innate immunity), Simon Gregory (mouse models of multiple sclerosis), Mike Hauser (zebrafish models of ocular disease), Allison Ashley Koch (zebrafish models of sickle cell associated nephropathy), Doug Marchuk (mouse models of cerebrovascular disease and stroke), Tom Petes (yeast models of triplet repeat expansion diseases), John Rawls (zebrafish models intestinal physiology, obesity and the microbiome), Howard Rockman (mouse models of heart disease and heart failure), Nina Sherwood (Drosophila model of hereditary spastic paraplegia), Debby Silver (mouse models of microcephaly, neurodevelopmental disorders), David Tobin (zebrafish models of mycobacterial infection, tuberculosis).