MECP2 gene duplication syndrome is a rare and severe genetic disorder. The syndrome is mainly characterized by intellectual disability, hypotonia, lack of speech and seizures. The symptoms and their intensity vary from child to child.
MECP2 Duplication Syndrome is one of the rare diseases.
WHO
MECP2 duplication syndrome is caused by the duplication of genetic material on the X-chromosome. Although there are some cases in female, MDS most commonly affects boys.
Dr. Van Esch made the correlation between MECP2 gene duplication and intellectual disability in 2005.
Researchers around the world are working hard to find innovative technologies to cure MECP2 duplication syndrome.
The first clinical trial for MECP2 duplication syndrome was started in 2024 with an antisense oligonucleotide. Shortly after, CRISPR technologies was injected to humans for the first time.
Dr. Zogbhi proved that the symptoms of MECP2 duplication syndrome can be reversed by administration of antisense oligonucleotides to mice.
REMEDS is a specialised register and medical survey platform focused on MECP2 duplication syndrome. It ensures the highest standards of security and privacy for patient data, with GDPR-compliant storage on a European server. All data is anonymized and encrypted.
Each registration is reviewed and validated by a dedicated REMEDS doctor ensuring that all patients have MECP2 duplication syndrome.
Once a diagnosis is confirmed by our doctor, caregivers receive notifications about scientific news and are invited to participate in surveys designed by pharmaceutical companies, scientists, and healthcare professionals.
By participating, you contribute to improving the understanding and treatment of MECP2 duplication syndrome. Your involvement helps to accelerate the development of new therapies and enhances the quality of care for all affected children. Additionally, you gain access to a supportive community and stay informed about the latest scientific advancements and research findings. By sharing your experiences and data, you play a crucial role in shaping the future of medical research and patient care for MECP2 duplication syndrome.
01
Sign in to a private space using multifactor authentication tools.
02
Provide detailed patient information and attach proof of diagnosis, for validation by REMEDS doctor.
03
Once validated, access the platform and manage your patient information.
04
Access and participate in open surveys, view the history of actions, and contribute to ongoing research efforts.
English 
Deutsch 
Español 
Français