News
Widespread errors in “proofreading” cause inherited blindness

A new paper from our group on Retinitis Pigmentosa appears in Nature Communication

Mistakes in “proofreading” the genetic code of retinal cells is the origin of a form of inherited blindness, retinitis pigmentosa (RP) caused by mutations in splicing factors, research has revealed.

This new understanding of the disease process, published in Nature Communications, is leading to the development of a gene therapy for RP caused by splicing factor defects.

Congratulations from our lab to to Adriana, Lili, Valeria and Joe for their hard work on this collaborative project with the University of Leeds, Durham and Max Planck Institute in Gottingen!

Read the full story from the Newcastle University press office:.

The published paper can be viewed here and downloaded as a pdf file.

New funding awards

Three new sources of funding have been awarded to the RSCR team

Fight for Sight funding: Assessing the feasibility of induced pluripotent stem cells to provide a disease model for Retinoblastoma.

RP Fighting Blindness funding: Investigating the role of alternative splicing in autosomal dominant retinitis pigmentosa using a PRPF31 patient specific induced pluripotent stem cell disease model.

Macular Society Funding: Exploiting the role of exosomes to treat age related macular degeneration and provide biomarkers for early diagnosis of the disease.

Light-responsive human retinal organoid model

The RSCR group has generated light responsive retinal organoids from human pluripotent stem cells.

Read more at PRWeb.

We have one PhD studentship to fill

We have one PhD studentship to fill to work as part of the recently funded European award (H2020-MSCA-ITN-2018): European training network to diagnose, understand and treat stargardt disease, a frequent inherited blinding disorder.

Enquiries should be addressed to Prof. Majlinda Lako at: majlinda.lako@ncl.ac.uk and Prof. Lyle Armstrong at: lyle.armstrong@ncl.ac.uk

Institute of Genetic Medicine and Institute for Ageing

Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3 BZ. United Kingdom

Tel: +44 (0)191 241 8688
Email: majlinda.lako@ncl.ac.uk

 

Newcastle University