Symposium Charlottehaven 3rd October 2019, Copenhagen
The purpose of the symposium is to present a concentrated view on the most recent developments in the genetics of retinal disease, especially inherited dystrophies, with focus on patients’ perspective and personalized medicine. New aspects of molecular genetics and cell biology will be covered as well as unsolved problems, like the “missing heritability”, such as lack of demonstrable pathogenic variants in a large number of patients, and, contrarily, the presence of two or more “competing” causative genes in a number of patients. New treatment strategies and technologies, such as how to establish and use stem cells for therapy, as well as comprehensive genome analysis as an initial preparation for gene therapy trials will be presented. We will finally discuss how research knowledge from inherited eye disease potentially can be generalized to more common diseases of the medical retina. Overall, the general take home message will be: What’s in it for patients!
The symposium will take place 3rd October from 3 pm to 7 pm followed by dinner at the meeting venue.
Professor Elfride DeBaere, MD, PhD, Ghent University, Belgium, – Understanding missing heritability in inherited retinal diseases using integrated omics
Professor Dennis Clegg, PhD, UC Santa Barbara, US – Development of a cell therapy for age-related macular degeneration
Professor Andrew Webster, FRCOphth, Moorfields Eye Hospital and UCL, London , UK – The impact of DNA sequencing technology on the management of patients and families with rare eye disease.
Karen Grønskov, PhD, Kennedy Center, Dept of Clinical Genetics, Rigshospitalet .TOPIC: the Velux project, molecular genetics, title to be announced
Lisbeth Birk Møller, PhD, Kennedy Center, Dept of Clinical Genetics, Rigshospitalet. Differentiation of RPE cells from induced pluripotent stem cells. Effect of Bardet-Biedl Syndrome genes
Chair – Professor Zeynep Tümer, MD, PhD, DMSc, Dept of Clinical Genetics, and University of Copenhagen. Participants to be announced.
The arrangement is sponsored by Veluxfoundations. Symposium attendance is free of charge, including dinner.
Organizers: Velux project management group, Kennedy Center, Dept Clinical Genetics, Rigshospitalet
Meeting address: Charlottehaven, Hjørringgade 12C, 2100 København Ø
Registration is necessary before 24th August 2019 to secretary Heidi Olczyk. Send an email with name(s) of attendant(s) and department/workplace to Heidi.firstname.lastname@example.org, or call her +45 29204805