Mutations in the RP2 gene cause a specific form of the inherited retinal disease retinitis pigmentosa. The InsightRP2 registry helps clinicians and researchers better understand the genetic basis and disease progression of RP2-associated retinitis pigmentosa and to focus their research and the development of future treatment strategies on improving patients’ quality of life.
Text description of visual
The header of the visual features the InsightRP2 project logo and the title “Patient Registry for RP2-Associated Retinitis Pigmentosa” on the left, and the logo of the Department of Human Genetics at the University Medical Center Göttingen on the right. The visual itself consists of three main elements: On the left, patients with retinitis pigmentosa caused by an RP2 variant are represented as person icons. Below these, four colored, interconnected fields list the categories of information included in the registry: genetic data, clinical data, retinal images, and laboratory results. Lines connect these fields to the main element in the center of the visual, labeled “InsightRP2 Registry.” Icons indicate that this is a secure online registry and that retinal image data is analyzed using novel AI-supported methods. From the registry, arrows point to the right to four colored fields listing the goals of the InsightRP2 registry study: understand natural history, improve clinical care, inform research into new gene therapies, and facilitate access to clinical trials.
The registry is based at the Department of Human Genetics at the University Medical Center Göttingen. People of all ages with a confirmed causative mutation in the RP2 gene are eligible to participate.
Registration is done online, on the appropriate registry page of the UMG, depending on the person’s age:
Contact:
Study managers at the Department of Human Genetics
Dr. med. Nina Bögershausen: nina.boegershausen@med.uni-goettingen.de
Prof. Dr. med. Bernd Wollnik: bernd.wollnik@med.uni-goettingen.de