Dupmecp2

MECP2 duplication syndrome (MDS) is a rare and progressive genetic disorder affecting mainly boys. The syndrome is caused by a duplication of genetic material located on the terminal region (Xq28) of the X chromosome, involving the MECP2 gene as well as other related genes (IRAK1, GDI1, FLNA, L1CAM, IDH3G…). The size of the duplication and the severity of the symptoms vary greatly from one patient to another without, however, establishing strong links between these two variables. The protein encoded by the MECP2 gene, called MeCP2 (methyl CpG binding protein 2), plays a central role in the regulation of other proteins responsible for brain development and function. Duplication of the gene leads to overproduction of the MeCP2 protein, thus preventing the regulation of other proteins. This results, clinically, in moderate to severe intellectual disability (ID), delayed psychomotor development, and very poor or absent language. Different research groups have already started projects towards a cure showing promising results. Our association, based in Vienna (Austria) is active in the following fields: • Support and share experiences with families awaiting diagnosis and improve the lives of children. • Monitor progress of research projects and inform families of scientific breakthroughs. • Identify projects and participate in their funding through fundraising and donations while raising awareness of MDS among the general public, physicians and caregivers.