Current Research Projects
The NDF are delighted to announce their partnership with GOSHCC and Sparks, the children’s medical charity.
Professor Jane Sowden (pictured) will investigate whether replacing the faulty gene that causes deafness in Norrie Disease could save the hearing of boys with the condition, who are born blind. This is a continuation of the pioneering work done by Professor Maria Bitner-Glindzicz, who sadly passed away in 2018.
This project brings together a multidisciplinary clinical and scientific team based at GOSH and UCL working together with the NDF.
Understanding the Medical Features of Norrie Disease
The NDF are supporting a clinical study on understanding the medical features of Norrie Disease, at Great Ormond Street Hospital. This research is gathering information in a Norrie Disease patient registry on how Norrie Disease presents in individuals and variation in the symptoms.
This study was started by Dr Amina Al-Yassin 2017-2018, Clinical Fellow in Genetics at Great Ormond Street Hospital. Dr Al-Yassin conducted 22 face to face family studies to help the team at Great Ormond Street Hospital build a good idea of the issues experienced by people with Norrie Disease and their journeys in the healthcare system.
If treatments for some of the complications of Norrie Disease become available in the future these studies will help researchers understand who to treat (everyone or just some people?), when to treat (before too much damage has been done) and how to tell if treatment has worked or not (the person might have fewer complications or a less severe medical problem than might be expected for a person of their age with Norrie Disease).
Norrie Disease Patient Registry
Currently there is no central repository for patients diagnosed with Norrie Disease which makes it much harder to undertake research in this area. This is why we are thrilled to announce that we are working with the world-renowned Great Ormond Street Hospital, London to set up a Norrie Disease patient registry.
The registry will have European focus with intention to collaborate globally.
Completed Research Projects
Laboratory Study in the Hearing Loss
With thanks to funding from Newlife, The Charity for Disabled Children and Sparks Children’s Medical Charity the NDF were able to support a laboratory study into Norrie Disease hearing loss.
The aim of the study was to develop an understanding of when and where in the Norrie ear the hearing loss occurs and if and when this can be treated by gene therapy.
Where and When
This was a 3 year study at at UCL Great Ormond Street Institute of Child Health which started in 2017 and finished in 2020. It is a huge step towards our ultimate goal of either preventing or reducing hearing loss so that people with Norrie Disease do not end up deaf as well as blind.
Professor Maria Bitner-Glindzicz who very sadly died in September 2018 was leading this research but Professor Jane Sowden and colleagues at UCL Great Ormond Street Hospital worked very hard to ensure the work was completed.
We hope to be able to share the outcomes of this study very soon.
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.
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.