The Department of Genetics and Genome Sciences has a strong focus on developmental and stem cell biology. We use a variety of cell and animal models to study the impact of genetic and epigenetic aberrations on normal development and their contribution to disease.
The advent of embryonic and induced pluripotent stem cell technology has enabled temporal access to disease-relevant cells and tissues. Many labs throughout the department are using pluripotent stem cell technology to define the mechanisms underlying normal development and a spectrum of disorders including the labs of Tony Wynshaw-Boris (autism and microcephaly), Ann Harris (cystic fibrosis), Paul Tesar (multiple sclerosis and other myelin disorders), Ashleigh Schaffer (neurogenetic disorders), Fulai Jin (regulation of pluripotency), Helen Miranda (motor neuron disorders), Yan Li (diabetes), and Peter Scacheri (CHARGE syndrome).
Mouse models and advancements in genome engineering such as CRISPR/Cas9 are being used to study endocrine disorders in David Buchner’s lab, cystic fibrosis in the labs of Mitch Drumm, Craig Hodges, and Ron Conlon, social behavioral disorders in Tony Wynshaw-Boris’ lab, and neurogenetic disorders in the labs of Ashleigh Schaffer and Paul Tesar.
The department also has a longstanding interest in germ cell biology and current efforts are focused on germline ovarian stem cell biology led by Helen Salz, spermatogenesis led by Shih-Hsing Leir and Ann Harris, and ovarian insufficiency led by David Buchner.