The discovery that mutations in the MECP2 gene are associated with Rett Syndrome stimulated scientific research to define the role of the protein product, MeCP2, in normal development. This research has defined numerous important functions of the MeCP2 protein and identified potential therapeutic targets for treating the symptoms of Rett Syndrome. Despite significant progress, it is not yet possible to explain in molecular terms exactly how the mutation in MECP2 causes Rett’s particular constellation of symptoms. As we are trying to cure disorders caused by faulty MeCP2, RSRT is continuing to fund research to fully understand the critical functions of MeCP2 .
To accelerate progress, we rejected the conventional practice of laboratories working in isolation and instead convened three powerhouse scientists to work collaboratively: The MECP2 Consortium.
The Consortium meets in person twice a year and has regularly scheduled conference calls. Lab members from one lab often spend time in the other labs learning two techniques and sharing different perspectives.
In Their Own Words
The Consortium works in large part due to the commitment of the three principal investigators. However that commitment is also required of all the lab members – the people who actually are in the lab day in day out executing experiments.
Harrison Gabel (Greenberg lab)
It is truly unprecedented to have three powerhouse labs that work on the mechanism of MeCP2 get together for meetings and share their most recent data. The reality is that under any other circumstances we would be competing and largely keeping secrets from one another until the data were published. This Consortium breaks down these walls and as a result the science moves much faster. Our group meetings are essential to critically assessing our work. Each lab group has its own “world view,” and having that view shaken up every six months is very constructive.
Matt Lyst (Bird lab)
Sharing current data between labs means we all receive input from people in the field but outside of our own labs at a much earlier stage than would normally happen.
John Sinnamon (Mandel lab)
Attending the RSRT Consortium meetings is a wonderful experience. There is a collaborative atmosphere you don‘t see at large scientific meetings and everyone is focused on understanding the biology of MeCP2 so that we can understand Rett Syndrome. For me personally, it‘s very powerful to meet parents of girls with Rett and to talk to them about my research. It provides a reminder of what I am working towards and gives the families an opportunity to talk one on one with the scientists.