“In order to understand MSS even better, we must continue to explore.”
Raoul CM Hennekam MD PhD
Professor of Clinical Genetics and Dysmorphology
[Picture: the research teams of prof. Thakker (Oxford) prof. Hennekam (Amsterdam), prof. Zenker (Germany), dr. Lachlan (Australia), dr. Van Balkom (Groningen) and dr. Priolo (Italy)]
What is our goal?
We conduct thorough scientific research into the effects of the gene NFIX. For example, tissue is available from mouse models with the same mutation on the gene NFIX as children with MSS. The skin cells of children with MSS are used to study the effects of NFIX mutations on genes and organs known to be negatively affected by the gene NFIX. This provides clues about cellular pathways that are influenced by NFIX. These routes can play an important role in the development of medicines or therapies.
Who is doing this research?
Research is led by Professor Raoul Hennekam (AMC Amsterdam) and Professor Raj Thakker (Oxford University). Both are an authority in their field: rare syndromes or bone disorders. The research will be carried out at the University of Oxford in collaboration with the AMC / University of Amsterdam and the Harwell top laboratory. In addition, we collaborate with research groups in Germany, France, Italy and Australia.
We get more out of this research
We realise that there is a very small group of 50 children worldwide, but we think it is very important to stand up for their happiness. Because this research will significantly increase the quality of life and life expectancy of people with MSS. But, there is more: the results of our research may also be relevant for larger groups of patients with bone disorders, such as osteoporosis.