Nicole's Research In Progress

Nicole García Tubéns presented her first research in progress (RIP) talk for the Human Medical Genetics and Genomics PhD program. Nicole is a second year student who joined our lab in July 2025. In just a few short months, she completed her first protein purification assays and optimized our enzyme expression system. She also completed a project focused on evaluating variants of unknown significance in OTC deficiency using a minigene assay. If you are attending SIMD, make sure to come by Nicole’s posters on both of these projects.

The first RIP talk is always a big moment for second-year PhD students. We are excited to have Nicole join our laboratory, and she has embraced our focus on patient-centered research. She attended the 2025 CurePDE family Retreat and gave an update on her research. She has met several patients and families with rare inborn errors of metabolism in the clinic, at patient advocacy meetings, and in virtual settings. And she will also host her first-ever CurePDE webinar for Spanish-speaking patients in June 2026! It has been a busy 10 months, and we look forward to seeing her grow as a researcher!