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Ophthalmogenetics

The Amsterdam UMC Ophthalmogenetics research section is part of the Human Genetics department, and was founded by professor Arthur A. Bergen, professor of complex genetic eye diseases. The section focuses on development and innovative pre-clinical therapeutic research. The section also includes the research activities for development of ocular therapies led by professor Camiel Boon and professor Clara van Karnebeek.

Prof. Arthur Bergen passed away on Sunday 15 September 2024 .

Arthur devoted his entire working life to the genetics of rare eye diseases. He received his PhD from LUMC in 1993 for a thesis entitled ‘Toward DNA diagnosis and Gene Cloning of Retinal Disease Genes’. Shortly afterwards, in 1996, he became head of the Department of Ophthalmogenetics at the Inter University Ophthalmological Institute (IOI), an institute of which he was also the mandated director for several years. The Ophthalmogenetics department moved first to the Netherlands Institute of Neuroscience (NIN), and in 2013 to the Department of Human Genetics at the AMC, now Amsterdam UMC, but Arthur remained in charge. The registry of people with inherited eye disorders available in Amsterdam formed the basis of his research). 

Initially, Arthur was mainly concerned with finding new genes involved in eye diseases, but in recent years his focus shifted more and more towards the ultimate goal of curing patients. To achieve this, he was co-founder and board member of the Emma Centre for Personalized Medicine. Fortunately, he was still able to witness the first successful steps in the field of therapy for hereditary eye diseases and was very closely involved in this himself.

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