Disease Genetics

If we inherit an abnormal gene from our parents, some physiological function guided by that gene might malfunction and cause a disease. Changes in our genes that lead to disease might also occur during our lifetime. Identifying these critical genes and figuring out how a mutation of them can disrupt normal body processes is the study of disease genetics. Results from this work are used to devise very specific treatments for disease.

Faculty who conduct research in this area:

Richard Cawthon -- genetics of human aging
Jean-Marc Lalouel -- role of the angiotensinogen gene in essential hypertension
Mark Leppert -- techniques for identifying genetic variations that cause disease
Suzi Mansour -- congential deafness and development of the mouse inner ear
Jim Metherall -- cholesterol metabolism and related diseases
Alice Schmid -- generic cellular neurodegenerative pathway in Drosophila metanogater

Adjunct faculty who conduct research in this area:

Arthur Brothman -- prostate cancer and cytogenetics
Ching-Kang Jason Chen -- phototransduction and light-dependent photoreceptor degeneration
Kevin Flanigan -- neurological diseases including muscular dystrophy
Rajendra Kumar-Singh -- vision disorders including Retinitis Pigmentosa
Louis Ptacek -- neurological diseases and circadian rhythm
Raymond White -- colon cancer