Innovator Spotlight

Q: What prompted the creation of the Trust?
The striking and unexpected 20071 reversal of symptoms in a mouse model of Rett Syndrome galvanized both families and scientists. Until then, the idea that such a severe disorder might be curable even decades after its onset in early childhood was more than anyone had dared to hope. The Trust was created in response to that breakthrough, to ensure the momentum and expand the reach of Rett research through a highly focused, global effort.

Q: What were the challenges in Rett Syndrome research that you felt the Trust could help address?
Rett is an unusually multi-faceted and complex disorder caused by mutations in the epigenetic gene, MECP2. While we know faulty MECP2 profoundly impacts normal development in Rett Syndrome, mutations have also been found in some cases of classic autism, childhood schizophrenia, and in patients presenting with learning disorders or anxiety. MECP2 is thought to control the activity of many other genes, but its exact function has yet to be elucidated.

Children and adults with Rett Syndrome suffer a staggering array of symptoms for which there is no real treatment. So in addition to pursuing answers about the underlying mechanisms of Rett, translational research is an urgent priority. Searching out and developing fresh perspectives and approaches means attracting talented newcomers to the field, and assessing the potential of high-risk projects. The acceleration of basic and translational science requires not only stimulating and facilitating new work and timely sharing of information, but a willingness to be somewhat daring, and to allow top-notch scientists from different backgrounds the freedom to investigate completely uncharted territory.

Q: How has the Trust tried to overcome those barriers?
We are proactive. We are constantly on the lookout for innovative, smart scientists who are doing synergistic work that we can pull into our research. Rather than using traditional timed cycles for submitting proposals, we encourage scientists to approach us with ideas as they arise. We do not shy away from high-risk projects; these may prove to be the experiments that move the field forward by leaps rather than incremental steps.

In general, we have moved away from the typical $50K per year, fund-a-post-doc kind of funding. In most cases we bring bigger dollars to the table, allowing investigators to 1) give us more of their mindshare and 2) the opportunity to freely follow their hunches.

We raise general awareness of Rett with public campaigns (Times Square PSA) and documentaries, and within the scientific community via conferences convened around specific sets of questions. These meetings are invitation-only and are designed to encourage free exchange of information about ongoing research, including unpublished work. The intimacy of this format has been quite successful in generating ideas for new projects, including collaborative efforts.

Beyond financial support to scientists we also provide access to intellectual capital and facilitate the sharing of research tools and data. We have well-established, worldwide scientific networking capabilities to provide both seasoned Rett researchers and newcomers with connections and input to advance their work. We do this through regular online bulletins and updates, and also through continual active engagement with and on behalf of the projects we support.

While continuing to fund basic science, our emphasis on translation is illuminating previously unexplored aspects of Rett, and this expansion of knowledge brings with it treatment possibilities that have never been considered before.

Q: What do you consider the Trust's greatest accomplishments to date?
We have significantly expanded our base of support. RSRT UK, established in 2010, just held its second annual fundraising gala in London. We currently have partnerships with Rett Syndrome nonprofits in Israel, Germany, and the Netherlands.

In keeping with a global research agenda and gathering scientists from diverse disciplines, we have initiated several international projects. These include a collaboration focused on gene therapy, and the MECP2 Consortium, comprised of three labs whose goal is the definitive understanding of the function of this elusive protein.

Our support of novel and sometimes high-risk research has resulted in several startlingly new approaches to Rett Syndrome and possible treatment modalities. We expect this work, some of which will be published this year, to attract wide interest.

Q: What are your top research goals for 2012, and what will it take to reach those goals?
Good science dictates its own path, based on results. We can't predict with certainty where a given project will take us. But as the Trust enters its fourth year, and five years out from the Bird reversal that changed how we regard this disorder, we see 2012 as a dynamic time for Rett research. Our goal, as always until Rett is cured, is to aggressively organize, develop, and support work that will yield breakthroughs in knowledge and treatment, and several examples of that are now on the horizon.

1 Guy, J., Gan, J., Selfridge, J., Cobb, S. & Bird, A. Science 315, 1143-1147(2007) 

Read an article featuring Monica Coenraads and RSRT in BioWorld Insight