Research

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

ENG met publicatie 2024

MSS Research program

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:

  1. Clinical work towards updated standards of care:Foto onderzoeksteam MSS Family weekend
  • 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.

 

 

The Standards of Care for the Marshall-Smith Syndrome are ready and we have also translated this document in English! We are very proud of this great document. Creating standards of care for the MSS fits the objectives of the MSS foundation. foto zorgstandaard voorkant engels

foto patientenversie zorgstandaard MSS voorkantIt is a next step in the efforts to strengthen the position of the patient and giving advice and information to families.The Dutch version is a result of efforts by Sonja Bracke and the Dutch umbrella organisation VSOP. The Fund PGO / Dutch Ministry of Health has funded this two-year program. The standards of care are available as an interactive pdf.

In 2017, this document has been translated into English.

We also have a patient edition. This patient information brochure provides a better explanation of medical terms. You can share this book with your family, relatives, friends, and also professionals who work in education and day-care.  They can all use this brochure as a source of information. This patient edition is also available as a book.

Download: Standards of Care (in English)

Download: Standards of Care patient edition (in English)

 

  1. Research into Marshall-Smith Syndrome