The Norrie Disease Foundation are very pleased to announce that Professor Maria Bitner-Glindzicz from Great Ormond Street Hospital has been successful in her application for funding for a research grant into the Norrie hearing loss from Newlife and from Sparks, The Children’s Medical Charity. Maria is a clinical geneticist based at the Great Ormond Street Institute of Child Health and also sits on the Norrie Disease Foundation’s, Scientific Medical Advisory Board. Maria has a special interest in genetic causes of deafness in children and adults. The research is a laboratory study on hearing loss in Norrie disease and whether this can be treated. Funding from Newlife for a PhD student will start in October 2017 and last for 3 years. We will post more information on the research project in our research section as it becomes available.
On another note, the Norrie Disease Foundation are delighted to introduce Amina Al-Yassin. Amina is a paediatric trainee working in London. Amina will be working with Professor Maria Bitner-Glindzicz at Great Ormond Street Hospital to try and understand more about the characteristics of Norrie disease in families. Amina hopes to talk to, and hopefully meet, as many people and families as possible so that the team at Great Ormond Street Hospital can try to build up a really good idea of the health issues experienced by people with Norrie as well as their journeys in the healthcare system.
One of the reasons for this research, is that if treatments for some of the complications of Norrie become available in the future, researchers need to know 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). This is called a ‘natural history study’ which means a study of what normally happens over time in a particular medical condition and we need to have this information if we want to offer new treatments.
If you are interested in taking part or want to find out more please email Amina firstname.lastname@example.org