Ophthalmic Genetics Research
My primary area of clinical and basic science research focus has been in ophthalmic genetics, and specifically on the disorders of ophthalmic development, such as the molecular genetics of primary congenital glaucoma, microphthalmia/anophthalmia, corneal dystrophy, and of myopia. I am trained as a clinician-scientist, and care for pediatric/adult ophthalmologic patients.
I now direct an ophthalmic genetics research program at the University of Wisconsin- Madison. I believe that this hybrid situation provides an important perspective to correlate clinical findings with gene alterations. I believe that detailed understanding of organ development at the genetic and cellular level is paramount to our continued efforts to improve patient counseling and care.
The optimal way to study the molecular and hereditary basis for such disorders is to establish a comprehensive database and repository of patient DNA/cell line samples from which a sizeable number of samples can be systematically tested to establish correlations. These clustered samples can be tested for mutations in select eye developmental genes. The identification of disease genes causing hereditary ophthalmologic disorders and associated anomalies is important for diagnostics and genetic counseling, gaining insight into the normal and abnormal development of the eye, and designing therapeutic strategies to cure these visually disabling disorders.