MECP2 duplication syndrome (MDS) is a rare and progressive neurogenetic disorder affecting children. It is caused by a gene duplication on the X chromosome which leads to an over expression of MeCP2 protein. The syndrome is characterized by a severe intellectual disability, developmental delay, hypotonia, recurring infections, and onset of seizures leading to regression.
Different research groups are working hard to find a cure for MDS. The group of Prof. Huda Zoghbi has proven in an animal model that symptoms are reversible if the amount of MeCP2 protein is corrected.
Octapharma is a family-owned company which develops and produces medicines based on human proteins from human cell lines and human plasma.
Caroline Covini, co-founder of the association “Lasst uns MDS heilen” (Let’s cure MDS) and mother of an affected boy, is project leader in R&D at Octapharma, Vienna.
In summer 2022, the pharmaceutical company organized a V-challenge for its employees in Vienna. All participants could either run, bike or walk. At the end of the challenge, over 95 100 km were completed in 88 days. These kilometers were converted by the owners of the company into donations for good causes.
The owners of Octapharma have decided to make a 10 000 euros donation to “Lasst uns MDS heilen”.
Here you see on the picture the handover of the donation cheque by Barbara Rangetiner, General Manager at Octapharma Vienna to Caroline Covini.
The donation will contribute to fund:
• Promising research projects
• Support for implementation of upcoming clinical trials in Europe
• Infrastructures for children with disabilities
• Development of the association
We sincerely thank Octapharma and their sporty participants for the kilometers and their support to the association.
You can continue to show your support and contribute to the projects of the association by donating
Learn 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
