Research

Research

Celebrating Rare Disease Day Saturday 28th February 2026!

The NDF and GOSH are delighted to celebrate rare disease day 2026 by launching the first ever Norrie Disease PPIE group!

NDF and GOSH are thrilled to be launching an exciting opportunity for people with lived experience and key stakeholders in our community to be involved in designing and shaping the research that is happening in Norrie disease. If interested, email James by 31/03/26: j.arwyn-jones@ucl.ac.uk.

For further information, please see our flyer.

Leading the way in Norrie Disease hearing loss research

We promote and raise funds for pioneering research towards a better understanding of Norrie Disease with the ultimate aim of finding a therapy to stop or slow the progressive hearing loss.

Currently there are three exciting projects underway.

  • A partnership with GOSH and SPARKS- Investigation into gene replacement
  • Understanding the medical features of Norrie Disease
  • A Norrie Disease patient registry

More information on these projects can be found on our Research Projects page.

See also our FAQ and research resources pages.

We are also delighted to be able to share our first research paper into Norrie Disease hearing loss 2017-2020.

Healthcare Professionals - we need you

NDF is calling upon researchers and funders to support our mission to start new much needed research to treat and prevent progression of Norrie Disease.

If you wish to get involved please get in touch now.

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Medical Advisory Board

NDF has brought together world renowned experts in Norrie disease and researchers through the NDF Scientific and Medical Advisory Board, which is driving research in the EU/UK.

Jane Sowden
Professor Mehul Dattani