Prof. F.P.M. Cremers (Frans)

Prof. Frans Cremers is head of the Blindness Genetics workgroup of the Department of Human Genetics and coordinator of the Foundation Fighting Blindness research program entitled‘Splice Modulation to Treat Inherited Retinal Diseases’. He and his team members discovered >30 genes implicated in inherited retinal dystrophy (IRDs) and vitreoretinopathies. In the last years Dr. Cremers is focusing on the identification and functional analysis of deep-intronic variants, with a special interest in Stargardt disease due to mutations in ABCA4. He successfully employed stem cell technology to identify retina-specific splicing defects. His future studies also aim to identify modifiers of IRDs. These studies are essential for accurate diagnoses and genetic counseling of IRDs, and lays the foundation for the successful application of new therapies.

• Blindness Genetics