Congratulations to Winston!
Winston Lee defended his PhD thesis, “The Monogenic Architecture of Retinal and Neurological Diseases” on April 11th, 2023. In the Allikmets labs, Winston successfully unraveled the underlying cause of non-penetrance and variable disease expressivity associated with several major disease-causing alleles in the ABCA4 gene. These findings lead to the development of a precise prognostication tool that can be used in the clinic for patients with ABCA4-related retinal degeneration. In the Gennarino lab, Winston identified a large cohort of individuals with a novel neurodevelopmental syndrome caused by pathogenic variation in the CERT1 gene. In addition, Winston also identified several novel disease phenotypes associated with a novel class of variation in the PUM1 gene.