Employs mouse models of human eye disease to study gene function and mechanisms underlying disease pathology.
Approximately 50 million people worldwide are blind and ~150 million are significantly vision-impaired. Except for trauma and infections, the majority of human eye diseases are genetic in nature. Initially, the goal of our research program was to use mouse models as an entry point to identify the molecules that were essential for normal retinal development and function through positional cloning efforts. We have identified the molecular basis of >100 models, discovered through spontaneous and chemically induced screening.
With the maturation of our program, we have begun to focus on using these models to study gene function and mechanisms underlying disease pathology. Knowledge of genetic modifiers and interaction partners is critically important in understanding the pathways that lead from a primary genetic defect to an observable phenotype. The overriding theme of our program currently is the elucidation of interactions that occur among molecules to identify common functional pathways as well as pathways that lead to disease and are impacted by primary mutations. We employ a blend of marker analyses, noninvasive imaging, functional studies, and generation of mouse resources that aim toward a greater understanding of the function and pathways in which the mutant retinal molecules we have identified act.
1987-1990
Postdoctoral Fellow, Children's Hospital, Oakland, CA
1984-1988
Ph.D., University California, Davis, CA
1983-1984
M.S., University of California, Davis, CA
1982-1983
R.D., University of Iowa Hospital & Clinics, Iowa City, IA
1982-1983
Dietetic Intern, University of Iowa Hospitals & Clinics, IA
1980-1982
B.S., University of Hawaii at Manoa, Honolulu, HI
1978-1982
B. Ed., University Hawaii at Manoa, Honolulu, HI
2012-
Graduate Faculty, The University of Maine, Orono, ME
2012-
Professor, Tufts University School of Medicine, Tufts Graduate School of Biomedical Sciences, Boston, MA
2011-
Professor, Tufts University School of Medicine, Boston, MA
2005-
Professor, The Jackson Laboratory, Bar Harbor, ME
1999-2005
Associate Professor, The Jackson Laboratory, Bar Harbor, ME
1994-1999
Assistant Professor, The Jackson Laboratory, Bar Harbor, ME
1991-1994
Research Scientist, The Jackson Laboratory, Bar Harbor, ME
1990-1991
Asst. Res. Biochemist, Children's Hospital, Oakland, CA
1988-1990
Postdoctoral Fellow, Children's Hospital, Oakland, CA
1983-1987
Research/Teaching Assistant, University of California Davis, CA
1980-1982
Research Technician, University of Hawaii at Manoa, Honolulu, HI
2011
Distinguished Lecturer Series, Columbia University
2007
Keynote Lecturer, First International Symposium on Usher Syndrome and Related Disorders, Omaha, NE
2006
Distinguished Lecturer Series, Bascom Palmer Eye Institute
2005
Distinguished Lecturer, Visiting Lecturer, The Cleveland Clinic Educational Foundation, The Cole Eye Institute
2004
Distinguished Visiting Scholar in Vision Research, The Dean A. McGee Eye Institute, University of Oklahoma
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