MECP2 Duplication Syndrome
MECP2 Duplication Syndrome is a severe neurological disorder diagnosed primarily in boys that affects almost every system in the body. The symptoms that arise from the MECP2 Duplication Syndrome (MDS) are caused, as the name suggests, by having a section of the X chromosome (Xq28) erroneously duplicated. The duplicated section, which always includes the MECP2 and IRAK1 genes, varies from individual to individual and may contribute to the severity of the disease.
Our Mission
To cure MECP2 Duplication Syndrome.
Our History
The MECP2 gene is also involved in Rett Syndrome, a genetic disorder that has been studied for far longer than MDS and has a well established scientific community. The Rett Syndrome Research Trust (RSRT) is the world’s largest funder of Rett research having invested over $66 million since 2008. In an effort to leverage RSRT’s deep knowledge base and global scientific networks, parents of MDS children inquired in 2010 whether the organization could also administer research efforts for MDS. And so Cure MECP2 Duplication Syndrome was launched putting the intellectual and scientific resources of RSRT immediately to work for the MDS community. Cure MDS exclusively supports research aimed at reversing MDS.
The entire RSRT team works on behalf of both MDS and Rett. This includes the research team of Monica Coenraads, Randy Carpenter, Jana von Hehn, Sharon Lynch, who collectively have decades of drug development experience as well as the fundraising and administrative team of Tim Freeman and Ricki Davis.
Importantly, this human capital comes at no cost to Cure MDS. 100% of every dollar contributed is invested in research – not a single penny goes to overhead.
Although Rett Syndrome has more awareness, more families, and more money, the fact is that reducing protein levels for MDS is technologically easier than boosting protein levels for Rett. In that respect MDS should be easier to cure/treat than Rett Syndrome.
Our Accomplishments
Every dollar donated to Cure MDS has been donated or raised by families with an afflicted loved one. This funding has resulted in critically important advances in research on MDS.
Since 2010 MDS families and their networks have raised $4 million, all of which supports ongoing research
Funded the crucial experiment in the lab of Huda Zoghbi that determined that MDS is reversible
Based on the reversibility results, currently providing funding to the Zoghbi lab to develop an antisense oligonucleotide therapeutic to treat MDS
Funded two additional potentially curative projects, one in the lab of Ronald Cohn and the other in the lab of Anastasia Khovorova
In partnership with the Blake McMillan Trust and the Van Wright Foundation provided support to the MECP2 Duplication Syndrome Database carried out by Dr. Helen Leonard.