Exploring new treatments for vision loss in ABCA4 retinal disease

Monday 24 June 2024, 2:30 pm
PhD candidate
M. Kaltak
Promotor(s)
prof. dr. F.P.M. Cremers, prof. dr. R.W.J. Collin
Co-promotor(s)
dr. J. Swildens
Location
Aula

This doctoral thesis investigates the impact of genetic variants in the ABCA4 gene, which can lead to Stargardt disease type 1 (STGD1), a common inherited retinal disorder. The research specifically examines how these variants affect the process of pre-mRNA splicing—a crucial step in producing the ABCA4 protein, essential for functional vision. When ABCA4's activity is diminished, it can result in the progressive loss of vision seen in STGD1 patients. The study explores the use of antisense oligonucleotides (AONs), short RNA molecules that can modify splicing patterns, as a potential treatment. These molecules have been effective in other genetic disorders and might correct the splicing errors caused by ABCA4 variants to potentially halt the disease's progression. The findings could open new opportunities for treatment and address a significant unmet need in retinal therapies.

Born in 1994 in Zagreb, Croatia, Melita Kaltak pursued her master’s degree in Functional Genomics at the University of Trieste, Italy. In 2019 she moved to the Netherlands to pursue her PhD on antisense oligonucleotides for inherited retinal diseases, a collaboration between ProQR Therapeutics and Radboudumc. Currently, she works at Astherna in Nijmegen, coordinating preclinical activities to advance retinal disease therapies into clinical trials.