prof. dr. Arthur Bergen

Professor in the Human Genetics of Eye Diseases at Amsterdam University Medical Centre (UMC)

As a 16 year old boy in the late seventies, I already dreamed of working with DNA. This was even before it was known that genetical defects played a part in hereditary eye diseases, and when it was inconceivable that it would be possible to determine the sequence of genes in DNA in humans within a few hours with advanced equipment in a laboratory. Even then I foresaw the tremendous impact that DNA research could have for man and society. That is what I wanted to contribute to. In the mid nineties the titel of my Ph.D. thesis was : “Toward DNA diagnosis and Gene Cloning of Retinal Disease Genes”; in other words: 25 years ago we were still searching for disease-genes and setting up DNA diagnosis for hereditary eye diseases. That has been successful, because today we can find a genetical DNA cause in 70% of the cases of hereditary retinal diseases. In Amsterdam we have built up one of the most extensive registrations in the world of persons with an hereditary eye disorder (Ophthalmology and DNA data), providing an excellent basis for further (pre)clinical research and clinical trials.

Not so long ago the idea of therapy for hereditary eye diseases was almost unthought of. Patients who were diagnosed by a specialist were usually told “unfortunately nothing can be done for you”. Tragic and frustrating! How hopeful it is that now the first steps are being taken towards a therapy! Depending on the disease diagnosed, therapy can be divided into the following : dietary supplements, medication, and increasingly more forms of gen therapy. Therapy is certainly not yet available for all hereditary retinal diseases and all patients, but the first steps are being taken.

My work in the Pre Clinical Laboratory is usually invisible for outsiders over a long period of time. Research often takes years, and results only available for “the next generation” of patients. I never dreamed, as a 16 year old boy, that today I would be a Professor and head of a special department for this research, let alone a pioneer in new developments: “growing” retina with hereditary eye disease in a laboratory in order to test new medication, 3D bio-printing of living retina cells to test medication and/or use for transplantation etc. This latest development opens further prospects: The transplantation of retinal cells in humans, who have already completely lost their sight, being a future possiblity.

Education and experience