Each year on the 25th of June we celebrate Global MSS Awareness Day.
On this day we honor:
Every person who has shared, donated or supported our cause: Thank you all for helping us raise awareness for this ultra-rare condition!
Recently, the MSS Foundation has drawn up a new research agenda for the coming years. This was achieved in collaboration with our partners and advisors from MSS-USA, Oxford, and Amsterdam UMC. The research being conducted in Oxford by Amsterdam UMC and the University of Oxford is continuing because it offers promising leads. We are also intensifying our collaboration with the Amsterdam UMC Expertise Center. The MSS Foundation is contributing €70,000 to research coordinated by Amsterdam UMC, focusing on two core areas:
An important goal is that this will lead to a new standards of care with a mix of scientific information and information from practice and the experience of families worldwide, which will help to support daily life with MSS as well as possible.
2. Coordinate work on fundamental research - model systems:
From left to right: Rianne Kruize (physician-researcher), Anissa Leening (medical student),
Hidde Bout (physician-researcher), Dr. Leonie Menke (Medical Specialist, General Pediatrics),
Dr. Sylvia Huisman (intellectual disability physician), Hafsa Ahajan (physician).
A research team has been formed at Amsterdam UMC under the leadership of Dr. Leonie Menke and Dr. Sylvia Huisman. Rianne Kruize has been appointed as a physician-researcher (PhD) and has already begun the initial stages of this research. All the physicians and researchers involved also attended the MSS Family Weekend last June, where they spoke with all the families present.
We are extremely pleased with these new steps and the intensive collaboration with Amsterdam UMC. Our contribution to this research of €70,000 comes entirely from private contributions from all sponsorship campaigns and donations from friends and donors of the MSS Foundation, for which we are extremely grateful.
The MSS Family Weekend 2025 was once again a great success! No fewer than ten families gathered at the beautiful location ‘De Kindervallei’ in Valkenburg from Friday June 20th till Mondaymorning 23rd to meet and inspire each other.
The enthusiastic families received a warm welcome (both literally because of the tropical temperatures that weekend and figuratively) and enjoyed three days of meetings, gatherings, relaxation, delicious food, and fun activities. Researchers were also present to hold personal consultations with the families. This was extremely valuable!
All this was made possible by a large group of volunteers to whom we are very grateful. They organized fun activities for the siblings, provided meals and gave the parents a break when they wanted to relax. To strengthen the connection between the families and researchers, interpreters were present for the families who needed them. This was our 8th MSS Family Weekend.
We are looking forward to organize our next MSS Family Weekend in 2027.
Research into MSS is conducted in Oxford from a collaboration between Amsterdam UMC and University of Oxford. Having discovered in 2010 that an abnormality in the NFIX gene is the causative agent of Marshall-Smith Syndrome, this collaboration started in 2015.
We created a poster showing the timeline of the study and summarising in simple terms the results so far.
1 Kooblall, K.G., et al. (2023). A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall‐Smith Syndrome. JBMR Plus, 7(6): e10739. Link to article
2 Kooblall, K.G., et al. (2024). Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes. JBMR Plus, 8(7): ziae060. Link to article
Rare, but not unknown anymore
Our slogan: “Rare, but strong together!” is part of our mission. Marshall-Smith Syndrome is an ultra-rare disease, we only know of 65 children worldwide with this syndrome. And what about "strong together": parents, doctors, carers and volunteers worldwide are doing all they can to contribute to a better life for children with MSS and their families. Have a look at our mini documentary to get some closer to families with MSS.
Rare, but strong TOGETHER!
On Sunday, 24th of June 2018 we had our second “Maya`s Benefiz day” . It was some kind of a street party in the lovely village of Oberelsbach in the north of Bavaria (Germany). Mayas parents Pamela and Andre organized a public party on their court and the street in front of their house.
Many people came, young and old, healthy and disabled, friends and family. It was a big inclusion-event. We had all kind of things on our programm: in the morning three comedians and artists from the area: Cosmas Fischer, Fredi Breunig and Franky Schmitt with his Band Spilk. It was very funny and the audience had much to laugh about the good jokes and funny songs.
In the afternoon there was a lecture of the humangenetic Prof. Dr. Martin Zenker from the University of Magdeburg, who told about history of MSS and problems that childs actually have. There was also a dancing group from the Lebenshilfe and a solo guitar artist. Furthermore, a shepherd brought some goats. The children could stroke them and he teached the children how important nature and animals are for human being. Then the Band “For the song” entertained the visitors while a good friend of the family and Beer-sommelier Andy Seufert presented his newest receipts and creations of beer.
At the end of the day, Andre (Mayas dad) made an auction of prominent presents like a football shirt with all signs of the players of AC Milan and Inter Milan and special equipment from the German Car-Racer Dirk Adorf and Christopher Hase.
There was also a tombola for all guest and facepainting, piece of handicrafts and plays for the kids. Maya and her brothers Louis und Malte sold the new MSS-Cookbook.
At the end of the Day the Familiy Hahn received a lot of applause from all visitors. And this day finally brought another great result: more than 10.000 euros for the MSS Research Foundation!
On December 15, 2017 the MSS Research Foundation existed exactly 10 years. We are extremely grateful that the foundation has been able to do so much for children and adults with MSS and their families over the past 10 years. We celebrated this with a wonderful afternoon in CORPUS. Together we made a journey through man's body under the guidance of various experts in the field of MSS. We also looked back at what the foundation has been able to do for families with MSS in the past 10 years.
Would you like to support us with a gift so that we can contribute to making a life with MSS more bearable in the coming years? Then transfer your donation to our bank account number: NL83 RABO 0140 3511 59 in the name of MSS Research Foundation.
You can also become a friend of the MSS foundation by filling in this form. You then give a fixed annual contribution and you are included in the MSS friend file.
With your donation you contribute to research into MSS and good information for families with MSS worldwide.
Thank you for that!
