Exploring RNA therapies to treat ABCA4-associated retinal diseases.

Thursday 16 May 2024, 10:30 am
PhD candidate
N. Suárez Herrera
prof. dr. R.W.J. Collin
dr. A. Garanto Iglesias

Stargardt disease (STGD1) is a rare condition characterized by progressive retinal degeneration, also leading to vision loss and reduced quality of life. The genetic cause of STGD1 lays on alterations in the ABCA4 gene, and many mutations have been discovered in these patients over the last years. However, each patient presents different mutations in their DNA, also showing variable symptoms and disease progression. For that reason, finding a single therapy is immensely challenging, and currently, there is no available treatment. This research developed RNA-based therapeutic approaches to revert the harmful effects of these mutations. Since some mutations are present in only one or a few patients worldwide, part of this work was dedicated to develop personalized strategies for ultrarare or rare STGD1 cases. Simultaneously, a proof-of-concept strategy was designed to address a broader spectrum of patients, aiming to reduce clinical assessments for each different mutation.

Nuria (1995) obtained her Master's degree in Translational Medicine at the University of Barcelona in 2018. During her internship projects, she conducted research on the treatment of liver fibrosis. In 2019, she started her PhD at the department of Human Genetics at the Radboudumc, where she focused on the development of RNA-based therapeutic strategies for ABCA4-associated inherited retinal disease.