Cell Biology, Neurobiology & Anatomy

Research Area:  Genetic variation of eye diseases

I entered the Medical College of Wisconsin through the Interdisciplinary Program in Biomedical Sciences. After four rotations I entered the lab of Dr. Elena Semina in the departments of Cell Biology, Neurobiology, and Anatomy and Pediatrics. The Semina lab research focuses on the genetics underlying human development and disease.

My thesis work will involve the identification of new genes involved in eye diseases, mainly anophthalmia and microphthalmia. Anophthalmia and microphthalmia (A/M) are rare (1-19 of 10,000) developmental disorders associated with the absence of an eye or the presence of a small eye. A number of genes have been shown to be involved in A/M, with SOX2 mutations being the most common, at a mutation rate of about 25%. A large number of A/M patients’ underlying genetic cause is unknown. I am currently performing mutational screens in patient samples to identify any mutations in genes already being studied in the lab. I will also be performing a copy number variation (CNV) analysis, which will lead me to structural variants within the genome of individuals with eye diseases that will hopefully lead to new genes implicated in these diseases.