Current Projects
- A partnership with GOSH and SPARKS - Investigation into gene replacement
- Understanding the medical features of Norrie Disease
- A Norrie Disease patient registry
- Norrie Disease research at UCL GOSHIC has received another boost from the Lewis Spitz Surgeon Scientist PhD programme
See also our FAQ and research resources pages.
Current Research Projects
Gene Therapy Funding
We are delighted to announce that a 2023 UCL Lewis Spitz Surgeon Scientist PhD programme has awarded funding to focus on the development of a gene therapy for Norrie disease to prevent progressive hearing loss.
Successful Grant Application
We are delighted to announce that Prof. Jane Sowden, Professor of Developmental Biology & Genetics at ICH, NIHR Senior Investigator and theme lead for the Advanced Treatments for Structural Malformations and Tissue Damage was successful with her application for the RNID Translational Grant. This funding will support and accelerate the translation of Norrie disease research discoveries into a potential new treatments to protect and regenerate hearing.
More information coming soon.
Funding from the UCL Therapeutic Acceleration Support (TAS) Fund
We are excited to share the news that Professor Jane Sowden and the research team at GOSH have been awarded funding for Norrie Disease from the UCL Therapeutic Acceleration Support (TAS) Fund.
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.
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 research at UCL GOSHIC has received another boost from the Lewis Spitz Surgeon Scientist PhD programme
The Lewis Spitz Surgeon Scientist PhD programme is an opportunity for exceptional surgical trainees to carry out a three-year doctoral fellowship in translational biomedical research at UCL Great Ormond Street Institute of Child Health (GOS ICH). Two Fellowships are awarded in each funding call, with funding split in partnership between GOSH Charity and the NIHR GOSH BRC.
In this year’s funding call, James Arwyn-Jones, a level ST4 surgical trainee in ENT, was awarded a fellowship. James will work under the supervision of Professor Jane Sowden and Mr Robert Nash to use a mouse genetic model of Norrie disease to evaluate potential gene therapies. The aim is to perform a pre-clinical gene therapy trial in the mouse model, delivering the NDP gene sequence which is faulty in Norrie disease by intracochlear injection and measuring the outcomes of prevention of hair cell death and hearing loss. James is due to start his three-year PhD project on 3rd October 2023.
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.
Aim
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.
Researchers
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.
Outcome
We are delighted to be able to share our first research paper into Norrie Disease hearing loss 2017-2020. https://insight.jci.org/articles/view/148586
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.
