Investigating Norrin in the Laboratory

November’s Norrie Disease Research Update at UCL GOSH

by Dale Bryant, 30th November 2017.

Norrie disease is caused by mutations in the NDP gene. The NDP gene provides the instructions for making a protein called Norrin. When there is a problem with these instructions, Norrin is not made correctly so it is unable to carry out its job. To monitor Norrin in the laboratory, we use antibodies that have been specifically made to bind to Norrin. With additional tools we are able to observe these antibodies and use this information to investigate Norrin protein.

This month, we have been testing different antibodies to see which one is best at detecting Norrin in our samples. This is because some antibodies are better than others and we want to use the best one in our experiments. Certain antibodies also require specific conditions to be effective. Therefore, we have also tried different methods to see which one provides the clearest results.

We will use the observations of these studies to monitor Norrin in future experiments. Each genetic mutation that causes Norrie disease may disrupt the instructions for making Norrin in its own way. Therefore, understanding how the Norrin protein has been disrupted by these mutations is an important part of many experiments that we do.

Diagram of the antibodies that bind to the Norrin protein

Wendy receiving her certificate for completing Findacure’s Peer Mentoring programme

Celebrating ​​our journey on Findacure’s Peer Mentoring Programme

The NDF were thrilled to be offered a place on Findacure’s year-long Peer Mentoring Programme to help get us off the ground. We started the Peer Mentoring in September 2016 and have just attended the Closing event in September 2017. We thought it was time to share our journey so far with you all and no better way to do it than to celebrate our time on Findacure’s Peer Mentoring Programme.
Here’s a short a presentation of our journey since the beginning:
We are really thankful to Findaure and our mentor Dr Kamlesh Sheth for the amazing experience we have had during this year – we have learnt so much and come so far!
The Find a cure logo

Dr Kamlesh Sheth

Wendy receiving her peer mentoring certificate

Wendy Horrobin and Dr Rick Thompson

Participants at the peer mentoring closing event

Norrie families having coffee

Birmingham Norrie Family Day

Sunday 29th October saw the 3rd Norrie family meet in the city of Birmingham.

Families travelled from Bristol, Essex, Kent, London, York and Leicester to meet each other. We had intended to go to the park but once we all got talking there was no stopping and the time flew by as we shared a huge table in the corner of a coffee shop.

Seven Norrie families made it to the gathering. It was a wonderful opportunity for the community which ranged in age from 19 months to 34 years to get to know each other and share their experiences of living with Norrie disease and what has and hasn’t worked for them. Ed who is new to the community gave an inspirational speech about his life and his approach to living with Norrie disease. We are happy to say that Ed is also going to join our team of mentors and you can read more about him on our upcoming peer mentoring page.

We are now already looking forward to our next Norrie family meet.
Norrie families having coffee Norrie families meeting Norrie families meeting A norrie family A Norrie family and their guide dog People at the 3rd Norrie family day

ND research begins at GOSH

We are excited to be starting a research project at Great Ormond Street Institute of Child Health, University College London to understand more about Norrie disease in order to develop treatments. Professor Maria Bitner-Glindzicz’s research group has a long history of working on genetic hearing loss so we are particularly interested in understanding this aspect of the disease. My background is in neuroscience and I recently finished a research project investigating a different neurological disease before joining Maria’s group. I will be working alongside a PhD student with a background in biochemistry and together our goal is to investigate the pathology of Norrie disease. Our project will focus on studying developmental changes in the ear and the eye in Norrie disease, so that we understand better how we might treat the problems that arise.

This month we have been preparing the tools we need to carry out experiments. We will be examining the sensory cells and surrounding blood vessels in the ear and eye. This will provide clues on the best cells to target and what therapies may be possible. By monitoring the changes we will be better able to understand and follow the progression of the disease. Our work on this project is at an early stage so we will provide updates in future posts. There is much to be done so we look forward to reporting our activities along the way.

Dale Bryant 31st October 2017

Professor Maria Bitner-Glindzicz

Exciting Research News For The Norrie Community

Professor Maria Bitner-Glindzicz

Professor Maria Bitner-Glindzicz

Amina Al-Yassin

Picture by Michael Crabtree Phone 07976 251 824 email






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