Mukhtar

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs) Inherited retinal diseases (IRDs) are rare disorders, typically presenting as Mendelian traits, that result in stationary or progressive visual impairment. They are characterized by extensive genetic ...

Our new manuscript has just been posted as a preprint on bioRxiv. You can read the full story here www.biorxiv.org/content/10.1...

#retigene #IRDs #bioRxiv #Preprint #ResearchLife #ScienceInProgress #OpenScience

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs) Inherited retinal diseases (IRDs) are rare disorders, typically presenting as Mendelian traits, that result in stationary or progressive visual impairment. They are characterized by extensive genetic ...

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.