Assessment of rare variants in the CFI gene in individuals with age-related macular degeneration within the Finnish population
22.10.2020
Gyroscope Therapeutics want to assess whether the biobanks can identify individuals with dry AMD who may be eligible for a gene therapy trial. Participant inclusion criteria includes the presence of a rare genetic variant in the CFI gene, as carriers are expected to respond to treatment. As only ~3% AMD cases carry CFI rare variants, we would like to assess which dry AMD cases identified have DNA available for testing, and which cases have consented for recontacting. This information will be used to estimate the likelihood of finding sufficient eligible cases to open a trial site in Helsinki.
