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:
- Clinical work towards updated standards of care:
- Construct MSS castor database to gather data of individuals with MSS worldwide
- Data collection
- Set up multidisciplinary team(s) to cover all organ system; publish updated standards of care.
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:
- Construct MSS Biobank (as part of the Emma CPM Biobank)
- The development of iPSCs (stem cells) to study disease mechanisms at Amsterdam UMC.
- Gather samples to construct MSS episignature. For some, this can be supportive in the diagnostic process, as it provides more clarity when the genetic diagnosis is not (yet) clear.
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.