Pam Albert and Monica Coenraads just announced the creation of a specialMECP2 Duplication Syndrome Fund within the well-established Rett Syndrome Research Trust. This is exciting news. Since Rett syndrome and MECP2 duplication syndrome are both associated with different variations of the MECP2 gene, there has been a real question as to whether services, research, and fund development should be combined or conducted separately. There are many advantages to linking the two, although there have also been some concerns. The establishment of this fund represents a healthy working relationship. The announcement from Pam Albert and Monica Coenraads follows:
Dear Families affected by MECP2 Duplication Syndrome,
The 1st MECP2 Duplication Syndrome International Conference was held in May, in Houston, Texas. It was an important time of bonding and learning about research, and it was a call to action for us to come together and fight for a better future for our children. After thoughtful discussion with Pam Albert, Monica Coenraads, Drs. Melissa Ramocki and Huda Zoghbi and others, we are pleased to announce the formation of the MECP2 Duplication Syndrome Fund at RSRT.
The MECP2 Duplication Syndrome Fund will support, exclusively, scientific meetings and projects devoted to the study and means of treatment of MECP2 Duplication Syndrome. 100% of every dollar contributed will be invested in research – not a single penny will go to overhead.
Those of you who know Pam Albert are aware that her family has been struck twice by MECP2 Duplication Syndrome. Her son, Noah, died just before his 6th birthday from complications of the syndrome, and her younger son Braden, now 7, is also severely afflicted. Pam has been instrumental in connecting families with each other and organizing the International Conference.
Monica Coenraads has been involved with MECP2-related research for over a decade first as the Director of Research at the Rett Syndrome Research Foundation and now as the Executive Director of the Rett Syndrome Research Trust and the mother of a teenaged daughter with Rett Syndrome.
It was only recently that a distinct subset of clinical problems observed in children with duplications of the Xq28 chromosome was attributed to overexpression of the MECP2 gene, mirroring the problems that had already been described in mice by Dr. Huda Zoghbi and members of her lab. As you probably know, in Rett, the MECP2 gene is mutated and the resulting protein cannot do its job properly. But in the Duplication Syndrome, there is an extra copy of the MECP2 gene and, in most cases, neighboring genes as well. This causes the neurological and immunological havoc we must find ways to repair.
The dramatic reversal of Rett symptoms in mice described by Adrian Bird in 2007 opened the field to questions that now must also be explored in the MECP2 Duplication Syndrome. We know that in Rett, restoration of proper MeCP2 function in mice only days away from death brought them back to health. Would elimination of the influence of excess MeCP2 in the Duplication Syndrome have a similarly dramatic effect?
Much of the scientific work with which RSRT is already engaged will provide valuable understanding of both Rett and the Duplication Syndromes in terms of deep knowledge of the precise functions of this powerful protein and drug targets for specific symptoms. RSRT also supports some very unique approaches to mediating the influence of MECP2 via the immune system or modifier genes that impact MECP2 pathways. A relatively new technology called RNA interference, which is used to “turn off” the effect of genes implicated in diseases is yet another important tool for work on the Duplication Syndrome.
Pursuing treatments and cures for the MECP2 Duplication Syndrome is a natural extension of RSRT’s mission and expertise. Our deep knowledge base and well established global scientific networks can be applied immediately to this horrendous disorder. Though the number of identified cases so far is small, the research potential to impact the Duplication Syndrome expands exponentially when allied with the dynamic and intense focus Rett has received, driven largely by the determination of people who are directly affected.
We hope that the families affected by MECP2 Duplication Syndrome and those who know and care about them will be encouraged and energized by the possibilities that are waiting to be explored with this new framework in place. The full intellectual and scientific resources of RSRT are available to you. Your participation and commitment are more than welcome: they are a necessity. It is your energy that will fill this new structure and determine the speed and intensity of MECP2 Duplication Syndrome research. All of us are ready for positive change in our children’s lives, and it is up to us to make it happen.