Unraveling molecular mechanisms underlying congenital blindness

Monday 18 December 2023, 2:30 pm
PhD student
S. Faber
prof. dr. ir. R. Roepman, prof. dr. R.W.J. Collin
dr. A. Garanto Iglesias

Vision is one of the most valuable senses of the human body. This sense is affected in people with congenital blindness, significantly limiting their daily lives. Congenital blindness is often caused by a gene defect that leads to the death of the photoreceptor cells, better known as rods and cones. These are the light-sensitive cells of the retina which are responsible for converting light into an electrical signal, which is ultimately conducted to the brain. The precise cause of the death of these cells is often unknown. This research has mapped protein networks that help to better understand the disease. Furthermore, this thesis shows that we can determine the effectiveness of an experimental gene therapy on the molecular level using protein network analysis and a special microscopy technique. This research brings us one step closer to the development of a suitable therapy against congenital blindness.       

Siebren Faber (1993) obtained his Master's degree in Biomedical Sciences from the University of Groningen in 2016. After a gap year, during which he traveled to New Zealand, Australia and Indonesia, he started his PhD research in 2018 at the Human Genetics department at Radboud university medical center. Under the supervision of Ronald Roepman and Rob Collin, he investigated protein networks in the context of congenital blindness and an experimental gene therapy against congenital blindness.