The Norrie Disease Foundation – The Norrie Disease Foundation

Stop our blind community going deaf

We promote pioneering research into Norrie disease and provide vital support to families living with the condition.

Royal Parks Half Marathon 2024October 2024

Run the most scenic half marathon and fundraise for the Norrie Disease Foundation! This stunning race takes place on closed roads through four Royal Parks and past world-famous landmarks.

If you are interested in running, please complete our online form.

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What is Norrie Disease?

Imagine a world without sight, now imagine it without sound too.

Norrie Disease is a rare genetic condition causing blindness/severe visual impairment from birth, as well as many secondary conditions including progressive hearing loss.

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What we do

The Norrie Disease Foundation is a UK based charity.

We promote pioneering research into Norrie Disease and provide vital support to families living with the condition.

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Living with Norrie Disease

If you are visiting this site as a family with a 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.

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Donate or FundraiseResearch into Norrie disease is severely underfunded

You can help the Norrie Disease Foundation fund research that could completely change the lives of those living with the condition, and stop our blind community going deaf.

Donate or Fundraise for us.

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Medical Advisory Board

The Norrie Disease Foundation is guided by its Scientific Medical Advisory Board in scientific matters including research efforts and direction under the leadership of Professor Jane Sowden.

Our board consists of renowned international experts in the field and we are very grateful to them for giving their time and expertise to the Norrie community.

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Latest news and family stories

GOSH Charity National Funding Call

Great Ormond Street Hospital Children’s Charity (GOSH Charity) is committed to supporting outstanding paediatric health research. We are…

Norrie Disease Conference 2023 – Videos and presentations

Below is a selection of videos from the Norrie Disease Conference 2023. Josh and Ethan Developing a gene…

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The Norrie Disease Foundation

2 months ago

Calling the Norrie Disease Community!Take part in the GOSICH natural history studyWe are very excited to share the news that Great Ormond Street Institute of Child Health (GOSICH) are ready to start the Norrie disease natural history study. This study is supporting the hearing loss research as we progress towards finding a treatment. You can take part by emailing j.arwyn-jones@ucl.ac.ukThe study will not only be looking to collect data from people with Norrie disease, but also from female carriers. We hope to gather information from you about your general health, and specific clinical investigations you may have had that are of particular interest to us (including eye tests and hearing tests).Most of the data we will collect is going to be via questionnaires about your health experiences, some of which can be filled in by yourself (on paper or online), and some of which will be filled in together virtually with Dr James Arwyn - Jones, ENT SpR (OOPR), Lewis Spitz Surgeon Scientist PhD Fellow, Great Ormond Street Institute of Child Health.Data related to clinical tests like hearing tests may be available from you directly, or may be obtained via your GP or regular clinicians. As well as all of this “retrospective” data collection (i.e. using data that already exists), we are looking to potentially set up some “prospective” data collection too, where we gather new data with potential additional tests where necessary and possible.We understand that everyone will have an individual experience and different set of available data. To ensure you understand the details of our study and what we need from you, as well as to go through the consenting process we have created a set of information sheets (see below). Please note that there are different sheets for adult and child participants, and other sheets for parents/guardians of child participants. Please download the sheet(s) relevant to you and go through them at your own pace. Part of the consenting part of the online survey will include a step for confirmation that you have been through the information sheet and have no queries or questions.To get started with the study please email j.arwyn-jones@ucl.ac.ukTo access the information sheets on the study please click on the image below and then the first link ‘Launch of the GOSICH natural history study’norriedisease.org.uk/research/research-resources/?fbclid=IwZXh0bgNhZW0CMTEAAR24P27vatdsA71mJOfwW2... ... See MoreSee Less

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Simon Reeve - NDF Ambassador

“Having an organisation like the Norrie Disease Foundation to raise awareness of the challenges people living with Norrie disease face and to provide vital support can make all the difference to the children and families affected.

I’m happy to be able to support a worthwhile charity.”

Adventurer and Author Simon Reeve