Arthur Bergen is expert in complex ophthalmogenetics, and his lab aims at unraveling molecular mechanisms of genetic eye diseases, with emphasis on those knowing progressive or inherited degeneration of the retinal neurons. In addition he is the owner of the genetic Delleman archive, containing 20,000 patient files of rare ophthalmic disorders, and including follow-up of 9,000 families and their DNA analyses.

The post-genomics research in his lab involves the use of a pipeline of techniques. Patient-derived iPSC and/or Crispr-manipulated ESC lines are used to generate defined cell layers and/or retinal organoids-in-a-dish. Subsequent (sub)retinal transplantation of these materials in small rodent models (mouse or rat) is performed and functional recovery in time is assessed by non-invasive visual screenings (SLO-OCT and ERG). In addition, RNAseq and immunohistological marker analyses allow for the comparison of patho-mechanisms at various defined stages.

https://www.amc.nl/web/research-75/person-1/prof.-dr.-a.a.b.-bergen.htm