2022 Second Place Innovation Award Winner: Linda Reis

Genetic Diagnosis and Gene Discovery in Pediatric Ocular Disorders Using VarSeq

Presented By: Linda Reis, Certified Genetic Counselor and Program Manager at Medical College of Wisconsin

Linda and her team are primarily researching developmental ocular disorders, including anterior segment dysgenesis, MAC spectrum (microphthalmia/ anophthalmia/ coloboma), early-onset cataracts or glaucoma, as well as optic nerve phenotypes are severe ocular disorders with a strong genetic component. Specific genetic diagnosis is important to families as it may guide medical management and provides accurate recurrence risk information. Identification of unique variants within known genes as well as novel genetic factors enhances our understanding of normal eye development and disease phenotypes and provides new targets for study in our animal model, zebrafish. Watch below as Linda discusses her research of pediatric ocular disorders using VarSeq.

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