bio-pharmaceutical companies are anxiously awaiting critical MECP2 DUPLICATION SYNDROME natural history data. The Ciitizen platform allows the collection and analysis of years of medical history records for purposes of research in one fell swoop!

The MECP2 Registry is a participant-driven project, overseen by MDS research advocates, with the purpose of furthering our understanding of this disorder and developing novel therapies. By sharing contact information and genetic reports in a secure central database, families will enable researchers to efficiently coordinate diagnostic studies and treatment trials. If researchers are also able to contact affected families with follow-up research questions, a dialogue between the community and researchers can emerge, greatly facilitating progress in MDS research

The Telethon Kids Institute team are still looking for families to take part in their online questionnaire study. If you have time to answer some questions over the internet, please visit:

You can save your progress as you go and do it in a couple of sittings! Your answers will go towards better characterizing MECP2 duplication syndrome and contribute to the current literature that we need.

For more information about the team, please visit:

https://rett.telethonkids.org.au/about/mecp2-duplication-syndrome/

Dr Helen Leonard (Helen.Leonard@telethonkids.org.au)

Dr Jenny Downs (Jenny.Downs@telethonkids.org.au)

Daniel Ta (Daniel.Ta@telethonkids.org.au)