MECP2 duplication syndrome (MDS) is a rare and progressive neurogenetic disorder affecting children. It is caused by duplication of a gene on the X chromosome resulting in over-expression of the MeCP2 protein. The syndrome is characterised by severe intellectual disability, developmental delay, hypotonia, recurrent infections and the onset of epileptic seizures leading to regression.
Various research groups are actively working to find a treatment for this syndrome. Professor Huda Zoghbi's group has shown in an animal model that symptoms are reversible when the amount of MeCP2 protein is corrected.
Octapharma is a family-owned pharmaceutical company that develops and produces human protein-based medicines from human cell lines and human plasma.
Caroline Covini, co-founder of the "Lasst uns MDS heilen" association and mother of a boy with duplication, is R&D project manager at Octapharma in Vienna.
In the summer of 2022, the pharmaceutical company organised a V-challenge for its employees in Vienna. All participants could either run, cycle or walk. By the end of the challenge, over 95,100 km had been covered in 88 days. These kilometres were converted by the company's owners into donations for good causes.
The owners of Octapharma have decided to donate 10,000 euros to the association "Lasst uns MDS heilen"..
Here you can see Barbara Rangetiner, Managing Director of Octapharma Vienne, presenting Caroline Covini with the cheque for the €10,000 donation to the association.

The donation will help finance :
- Research projects
- Support for the implementation of future clinical trials in Europe
- Facilities for disabled children
- The development of the association
We would like to sincerely thank Octapharma and the sports participants for the kilometres covered and for their support for the association.
You can continue to support and contribute to the association's projects by making a donation directly to the association.
Find out more about the association DupMECP2.eu
LinkedIn : https://www.linkedin.com/company/lasst-uns-mds-heilen-lets-cure-mds/
Facebook : https://www.facebook.com/dupmecp2
Instagram : https://www.instagram.com/dupmecp2


