Welcome to
The Norrie Disease Foundation
Change lives and make a difference to those living with Norrie disease.
Promoting research and raising awareness of Norrie Disease.
Who we are
We are the Norrie Disease Foundation, a charity working within the Norrie community in the UK. Our aim is to promote vital new research and provide more support to families by further strengthening the Norrie network.
What is Norrie Disease
Norrie disease is a rare X-linked genetic condition which causes boys to be born blind or with severe sight impairment. Secondary symptoms can include progressive hearing loss, cognitive impairment, autism and delayed development.
How we can help
If you are visiting this page as a family with a new diagnosis of Norrie disease, we want you to know that you are not alone. The Norrie community is growing, it is strong, and keen to support, hear and share experiences.
As with any rare disease, it is difficult to know the exact numbers affected. We believe there are approximately 500 families worldwide. However, as awareness of the condition is increasing more patients are being diagnosed with Norrie disease and our community is growing.
We work with the international Norrie community, sharing information and resources.
How you can help
Sign up to learn more about the Norrie Disease Foundation and join our community.
If you are a healthcare professional or a researcher interested in Norrie disease we would like to hear from you to explore how we can work together.
The Norrie Disease Foundation does not offer advice. We promote research and share experiences and contacts. Please contact a healthcare professional for medical advice.
Simon Reeve becomes NDF first Ambassador
/0 Comments/in News /by adminNDF is so happy to share the news that author and presenter, Simon Reeve, has become their first Ambassador. Simon worked on the Big Life Fix with Josh, who has Norrie disease, where he to got understand the difficulties that visually impaired children experience in everyday life. Please follow the link below for more information. […]
Investigating Norrin in the Laboratory
/0 Comments/in News /by adminNovember’s Norrie Disease Research Update at UCL GOSH by Dale Bryant, 30th November 2017. Norrie disease is caused by mutations in the NDP gene. The NDP gene provides the instructions for making a protein called Norrin. When there is a problem with these instructions, Norrin is not made correctly so it is unable to carry out […]
Celebrating our journey on Findacure’s Peer Mentoring Programme
/0 Comments/in News /by adminThe NDF were thrilled to be offered a place on Findacure’s year-long Peer Mentoring Programme to help get us off the ground. We started the Peer Mentoring in September 2016 and have just attended the Closing event in September 2017. We thought it was time to share our journey so far with you all and […]