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

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)

 

The MSS Research Foundation and the Institute of Child Health from University College London have joined forces and decided to set up an initial research project to obtain detailed and reliable information on as many MSS children as possible, irrespective of where they live. The ultimate goal is to determine two things: What health issues arise as a result of MSS? And secondly, what are the causes of MSS?

© 2023 MSS Research Foundation