Happy to announce that the preprint about Retigene, our new gene atlas for inherited retinal diseases, is now on-line. www.biorxiv.org/content/10.1...

🧬IOB researchers (@Mukhtarullah.bsky.social @karkam.bsky.social @carlorivolta.bsky.social @mquinodoz.bsky.social) and international team uncover genetic signatures of eye diseases in Pakistan 📖 doi.org/10.1038/s415... #Genetics #Vision #AcademicSky Image © IOB, generated with Google AI, Gemini

This work lays the groundwork for the development of affordable, population-tailored genetic diagnostic tools, fair access to future gene therapy trials, and a more inclusive understanding of rare diseases globally

Our findings not just add new data but reshape what we know about IRDs in high-consanguineous populations.

In this study, we’ve precisely mapped the genetic causes of inherited retinal diseases (IRDs) in Pakistani patients.