Norrie disease affects the eyes, the ears, and the brain.
Norrie Disease Switzerland is a nonprofit association and is recognized under Swiss law as being of public utility.
association
The association was created and is being managed by parents of an individual who was born with Norrie disease (ND). They are committing themselves to driving forward research for ND, and they are doing this voluntarily and with a big heart for those affected.
Meenu Hodiwalla
President
Mother of affected person
Meenu has a Bachelor’s degree in Mathematics & Computing from London University, and an MBA in Human Resources from Bombay University. She has worked for several years in the field of software development in India. She gave up her career to take care of her son’s complex needs.
Boorzin Hodiwalla
Treasurer & Secretary
Father of affected person
Boorzin has a Bachelor’s degree in Commerce and an MBA in Marketing from Bombay University. He has worked in an international environment for the past 30 years and currently leads the Financial Services Segment of a global enterprise.
They are helped in their efforts by a team of wonderful, kind-hearted people who are supporting the association voluntarily. Here they are:
Francine Recoura
Sonia & Roberto Dionisio
Alexandra Dionisio
- to raise funds for medical research to prevent the progression of hearing loss in Norrie disease (ND) patients.
- to raise funds for, and to initiate, medical research to treat the brain related symptoms – such as epileptic seizures and autism – associated with ND.
- to inform and to support affected families.
We are working in collaboration with the Foundation to Treat Norrie Disease in Boston, USA. The foundation has brought about research which shows that it is possible via gene therapy to halt the progression of hearing loss for patients of ND (Hayashi et al, 2021). Historically gene therapy for genetic disorders has been effective only for young patients, but this research by scientists at Harvard University shows positive results even for older patients of ND who still have some useful hearing. The next step is pre-clinical research. This is our first priority because every passing day brings patients closer to the stage of profound deafness, which is a point of no return.
Another scientific development has raised our hopes that it may be possible to improve brain related symptoms of ND, such as autism and epileptic seizures. This would lift a huge burden from the shoulders of affected individuals and their families and caregivers.
To elaborate on this further:
We know from past research that Norrie disease patients have a “leaky” blood brain barrier (BBB) – a condition where the semi-permeable membrane between the blood and the brain becomes more permeable, thereby allowing blood-borne neurotoxic molecules to leak into the brain.
There is also evidence that a compromised BBB contributes to epilepsy (Vliet et al, 2014) and to autism spectrum disorder (Jagadapillai et al, 2022).
Given that BBB breakdown has been implicated in several neurodegenerative diseases including Alzheimer’s disease and Parkinson’s disease, scientists are working on ways to restore the integrity of the barrier.
In the meantime, we need more research to improve our understanding of the brain pathology of ND.
Prof. Pascal Senn
Head, Division of ENT and Head-and-Neck Surgery
University Hospital Geneva
Based in French speaking Switzerland, the foundation Action FRSA supports people who are deafblind or deaf, with or without other disabilities, of all ages and intellectual levels.
Established in 1903, SNABLIND is the umbrella body for Swiss charities for the blind. They are committed to ensuring that blind, deafblind, visually impaired and hearing and visually impaired people can live to their full potential and as independently as possible.
Retina Suisse is an association of patients with retinitis pigmentosa (RP), macular degeneration, Usher syndrome and other diseases of the fundus of the eye.
We are collaborating with the Foundation to Treat Norrie Disease.
Based in USA, the foundation was created by parents whose son was born with Norrie disease. We have the common objective of finding a treatment for the symptom of hearing loss and the brain related symptoms of the disease.
If you are a person living with Norrie disease, a parent, guardian, or someone in charge of the affected person, then we invite you to become a member of our association.
Membership is free and is open to families worldwide.
Advantages of becoming a member:
- you will have access to a private online group for members. This is a safe space for families to connect and share their experiences.
- you will receive regular updates about the association’s progress and news pertaining to research.
- you will receive an invitation to participate in the annual general assembly.
- you will have the right to vote.
By becoming a member, you support us in our mission to find treatments. The more families we have, the better our chances of making our voices heard. There is strength in numbers!
To become a member, please send us a message with the name, age, & symptoms of the affected person.
We will get back to you as soon as possible once your application is approved by the committee.
Please know that all data will be treated confidentially and will only be used within the framework of a register for statistical purposes and for our communications with you.
Our story
Meenu Hodiwalla, the association’s president, shares her family’s experience of life with Norrie disease:
He was a few weeks old when we first noticed that Ruzbeh, our son, was not looking at us, his gaze not focussing on objects around him. It took 2 months of frantic consultations with specialists before we finally found an ophthalmologist who knew the reason why Ruzbeh had no vision. The doctor was convinced that Ruzbeh was born with the rare genetic disorder called Norrie disease (ND), because of which his retinas were detached, and that this is irreversible. The news was a hammer blow, and I burst into tears.
Subsequently a blood test confirmed that Ruzbeh was indeed born with ND. I had no idea what Norrie disease was. I also struggled to understand how this could have happened since there was no previous case of any genetic disorder in the family. It was only later that I learnt that I am a carrier.
I tried to move past the melancholy and the grief by busying myself with taking care of Ruzbeh. I read books on how to raise a blind child. I thought that with the right education Ruzbeh would be able to live an independent life.
Little did I know that my son’s lack of vision was going to be the least of his problems.
Ruzbeh was 2 years old when our small family of three moved from New Delhi, India to Geneva, Switzerland. He was yet nonverbal and this had us worried. We consulted therapists, and after many sessions of observing Ruzbeh and of interacting with him, they gave us the shocking news that he is on the autism spectrum [Up to 50% of ND patients present with autism, cognitive impairment, seizures]. Thankfully he started speaking a few months later, but his behaviour remains distinctly autistic and necessitates round-the-clock care and supervision.
[ Here are some of Ruzbeh’s present day autistic traits: difficulty in managing negative emotions (such as frustration) which results in episodes of screaming, shouting and hitting his head, very high levels of anxiety, disturbed sleep, rapid, nonstop & repetitive talking and making us repeat everything he says ]
With this news, our hopes of enrolling Ruzbeh in a school for the visually impaired and blind came crashing down. Unable to cater to the needs of a blind and autistic child, they refused a placement. There was no option other than to enrol him in a school for mentally disabled children. The teachers did their best to adapt their activities for a child with no vision, but it broke my heart when children at school pulled Ruzbeh’s hair or scratched him; being blind he had no way to anticipate their moves and was unable to defend himself.
I also struggled to find extra-curricular activities which could accommodate the twin disabilities of blindness and autism.
But even this was not the end of the nightmare that is Norrie disease.
We had read on the internet that patients of ND experience progressive hearing loss. As the disease progresses, their hearing declines and they become profoundly deaf in mid to late adulthood. Ruzbeh was 12 when he was diagnosed with mild hearing loss and his hearing has indeed declined since then.
Being autistic, he seldom wears his hearing aids.
Patients of ND also complain of episodes of sudden hearing loss (SHL). This is very unsettling and anxiety provoking because they suddenly hear less or nothing in one ear. In addition, a dull feeling of pressure in the ear can occur and tinnitus noises such as whistling or ringing may also be perceived. I know Ruzbeh is experiencing SHL when he complains of a blocked ear and looks very distressed. If the discomfort persists, he hits his head repeatedly out of sheer frustration – one of the hallmarks of autism being difficulty in managing extreme emotions – until the SHL subsides. I feel so helpless.
We live in a state of constant fear – afraid of the day when Ruzbeh will not be able to hear anymore. In the absence of vision, he relies on his hearing to be able to make sense of the world around him. How will he manage without it?
Over the years, I have connected with several parents of children born with ND, and their stories echo mine.
In these gloomy circumstances there is finally a ray of hope. Recent advances in science coupled with the hard work of another ND family have brought us closer to finding a treatment to halt the progression of hearing loss. The moment I came to know of this development, I knew I had to try and move things along faster. This is why I have created this association which is a legally recognized charity. I know it is very hard to raise funds for rare disease research because the patient community is very small, but I refuse to give up.
At present Ruzbeh is a resident of the Centre des Marmettes, a residential facility for the deafblind, managed by the FRSA (Fondation Romande SourdAveugles – Foundation for the deafblind in French-speaking Switzerland) in Monthey, Valais. We are very fortunate to have found this place because the living conditions and activities are adapted for Ruzbeh’s dual sensory loss (blindness and hearing impairment) and it also provides the structured environment that is so necessary for an autistic individual.
He is learning to read and write braille.
He has an extraordinary memory. He loves listening to music and enjoys playing the piano.
Some of his favourite activities are bowling, karaoke, horse riding, skiing, snowshoeing, and walking in the mountains.
NORRIE DISEASE
Named after the Danish ophthalmologist Gordon Norrie, Norrie disease (ND) is a rare genetic disorder caused by mutations of a single gene.
The gene plays an important role in the development and maintenance of blood vessels, most notably in the eyes, ears, and brain.
Affected patients are born blind or lose their vision in infancy.
They suffer from progressive hearing loss which leads to profound deafness in mid to late adulthood.
Up to 50% of affected individuals manifest neurological symptoms such as epileptic seizures, cognitive impairment, and autism.
Most – if not all – ND men over the age of 50 experience peripheral venous insufficiency, resulting in varicose veins, leg ulcers, and erectile dysfunction.
The Norrie disease gene is located on the X chromosome. The inheritance pattern is X-linked recessive. Only males manifest the symptoms whereas females are carriers. Where a female carries the mutation, there will be a 50% risk that a male offspring will inherit the disease, and a 50% risk that a female offspring will be a carrier. Where a male is affected, male offsprings are unaffected whereas 100% of female offsprings are carriers.
Below is a list of published research about ND, or of relevance to ND, shown in three categories:
- Stopping the progression of hearing loss in ND
- Brain abnormality in ND
- Blood brain barrier repair in neurological disorders
Stopping the progression of hearing loss in ND
As Norrie disease gene therapy for hearing loss approaches pre-clinical research, the list below comprises only the most recent research (2021 onwards):
- Norrie Disease: Cochlear Enhancement and Cerebellar Signal Abnormalities (Ferenchak et al, 2025)
- Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease (Patel et al, 2024)
- Abnormal cochlear enhancement in Norrie disease (Barkovich et al, 2024)
- Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease (Pauzuolyte et al, 2023)
- Norrie disease protein is essential for cochlear hair cell maturation (Hayashi et al, 2021)
Brain abnormality in ND
- Norrie Disease: Cochlear Enhancement and Cerebellar Signal Abnormalities (Ferenchak et al, 2025)
- Molecularly defined cortical astroglia subpopulation modulates neurons via secretion of Norrin (Miller et al, 2019)
- Expression of the Norrie disease gene (Ndp) in developing and adult mouse eye, ear, and brain (Ye et al, 2011)
- Differentiation of the brain vasculature: the answer came blowing by the Wnt (Liebner et al, 2010)
- Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4 (Luhmann et al, 2008)
Blood brain barrier repair in neurological disorders
- Therapeutic blood-brain barrier modulation and stroke treatment by a bioengineered FZD4-selective WNT surrogate in mice (Ding et al, 2023)
- Engineered Wnt ligands enable blood-brain barrier repair in neurological disorders (Martin et al, 2022)
GET INVOLVED
You can make a difference! Here are some ways in which you can support our work:
- Stay informed
- Raise funds on our behalf
- Donate
- Sponsor us
- Become a member (only for affected individuals and their families)
Stay informed!
Our newsletter is our means of communicating our progress and news of our fundraising campaigns. Signing up is a way of getting involved!
We know that your time is valuable, so we promise not to inundate your inbox.
Raise funds on our behalf
You are celebrating a special day, or occasion and you don’t really know what your loved ones or your friends should give you because you probably have everything that you want?
Why not use the occasion to collect funds for a good cause? Request your family and friends to make a small donation in our favour rather than buying flowers or gifts.
You are creatively inclined, and you like to sell your creations?
Use your talent to raise funds for us! Donate a percentage of the proceeds from your next sale to our charity.
You like to participate in sports?
Take part in a sports event or challenge, or race or walk, and ask your friends to donate a certain amount for every kilometre walked for example.
Donate
Your donation helps us to achieve our mission of accelerating research to find treatments for Norrie disease. Every donation is important to us, no matter if it is large or small.
Donations in Switzerland are eligible for tax exemption. We will send you a donation receipt.
Sponsor us
By sponsoring us, you help us implement our planned research projects and will be listed as a sponsor on our website. Please write to us at contact@norriedisease.ch.
Become a member
You are a person living with Norrie disease, a parent, guardian, or someone in charge of the affected person?
Help us by becoming a member of our association.
We welcome people from all countries, and there is no membership fee!
By becoming a member, you support us in our mission to find treatments. The more families we have, the better our chances of making our voices heard.
All you have to do, is write to us at contact@norriedisease.ch with the name, age, & symptoms of the affected person.
DONATE
Your donation will go towards
- accelerating research for the hearing loss associated with Norrie disease (ND).
- initiating research to further our understanding of the brain pathology of ND and exploring a way to repair the blood brain barrier.
The former may also lead to treatment targets for other forms of profound hearing loss, while the latter could also benefit the research on autism and epilepsy, as ND and these two disorders have in common a compromised blood brain barrier.
Every donation counts! As the saying goes, many hands make light work.
Norrie Disease Switzerland meets the legal criteria for a public utility service. Donations to our association are therefore tax-deductible in Switzerland. If you would like us to send you a donation receipt for a donation made via bank transfer, please send us your address. For an online donation, please check the box “I want a donation receipt for tax returns”. We will send you a donation receipt once we receive your donation.
You can donate to us via bank transfer, Twint, or credit card.
We thank you sincerely for your donation.
DONATE BY BANK TRANSFER
Beneficiary : Norrie Disease Switzerland,
Avenue d’Aïre 93F,
1203 Geneva
Bank : Raiffeisen Schweiz Genossenschaft,
Raiffeisenplatz 4,
9001 St. Gallen
IBAN: CH74 8080 8004 3860 6300 1 / CHF
SWIFT-BIC / IID: RAIFCH22XXX / 80808
Contact
If you would like to learn more about our nonprofit organization, or if you have any suggestions, please do not hesitate to contact us.
Norrie Disease Switzerland
93F Avenue d’Aïre
1203 Geneva
Suisse