Patients, families, clinicians and researchers learn together on rare blinding condition

Patients, families and clinicians joined together to discuss personal experiences and the latest research into Norrie Disease.

The Norrie Disease conference took place at University College London, Great Ormond Street Institute of Child Health, and was organised by the Norrie Disease Foundation and Professor Jane Sowden’s research group.

At the conference, which was held in December, families affected by the condition were able to connect with old and new friends in a supportive environment. Many of the teenagers were able to meet for the first time and younger children were able to enjoy sensory musical activities. Those who attended were able to mix with medical professionals and researchers outside of a clinical environment and share insight into the reality of living with Norrie disease.

Norrie disease is a rare genetic condition where children, primarily boys, are born blind or with severe visual impairment. Many children develop progressive hearing loss during early childhood affecting their quality of life. Clinicians at GOSH have been treating children with Norrie disease for years and the research partnership with UCL GOS ICH allows us to bring together leaders in the field to find new treatments and potential cures for our young patients and their families. Guests gathered in person and virtually to hear personal accounts by both parents and teenagers about living with Norrie disease as well as listening to presentations on the latest developments towards treatment by researchers and clinicians. The event bought together experts in Norrie disease and those working in other disease areas looking to develop gene therapies.

Currently, cochlear implants are the only treatment option available for the hearing loss caused by Norrie disease, however, they do not fully restore hearing. The delayed onset of hearing loss provides a window of opportunity after diagnosis for therapeutic intervention to prevent hearing loss. Gene therapy is a technique that uses a gene(s) to treat, prevent or cure a genetic condition. Research has recently shown that, for mice, injecting a gene therapy could improve hearing deterioration. The gene therapy encourages the cells to produce the missing protein linked to Norrie disease. By doing this, the tiny hair cells in the cochlea – part of the ear responsible for hearing - no longer die, reducing hearing loss.

“The presentations were delivered by researchers, clinicians and stakeholders who addressed Norrie disease with compassion, sensitivity, hope, honesty and unrivalled expertise as we work towards cochlear gene therapy. To have such a brilliant team of experts working together for the Norrie community gives us hope moving forward and hope in finding a treatment for hearing loss” Wendy Horrobin, Norrie Disease Foundation Chair and Co-founder.

“I am delighted to help host the first Norrie Disease conference, working with patients and families is important to inform research and is a big part of our strategy” Professor Jane Sowden, lead of the NIHR GOSH Biomedical Research Centre's Tissue Engineering and Regenerative Medicine theme.

The Norrie disease foundation was created six years ago by three parents who did not know any other Norrie disease families. At the time, there was no research in the UK and no reliable information about the disease. Fast-forward to now, around 50 families are known to the Norrie disease foundation and the first conference took place.

If you would like more information about the research into Norrie disease being undertaken at GOSH and our research partner UCL GOS ICH, or would like to be involved, please contact Dr James Arwyn-Jones.