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RSRF funding has played a part in nearly every breakthrough that's happened in the field since the MECP2 gene mutations were discovered. For instance, we funded the development of an animal model of Rett that has proved crucial. Currently, we're funding collaborative work between HHMI investigators Huda Zoghbi (see related story "Learning from Patients") and Nathaniel Heintz, targeting genes whose expression is up- or down-regulated because of MECP2 dysfunction.
My style is very hands-on. I comb through scientific journals and press releases on a daily basis and regularly recognize work that could be synergistic with Rett syndrome. When I contact these scientists and engage them in discussion, they are intrigued by the scientific challenge of Rett.
In working with these researchers, I have definitely developed personal relationships. I think the fact that I'm a mother with a child with Rett personalizes it. Recently, we've created opportunities for researchers to meet our children, which I think helps them understand the urgency of the disease. It's true that science takes time and that good science takes even more time, but as a mother of a child with this syndrome, I know that we don't have time. And I think they get that.
During the last 7 years I've witnessed Rett syndrome rise from obscurity to become a high-profile disorder with links to autism, schizophrenia, and a host of other neurological diseases. It is my hope that Rett syndrome will prove to be the first treatable childhood neurological disorder.
Monica Coenraads, her husband, Pieter, daughter Chelsea, and sons Alex, age 8, and Tyler, age 6, live in Trumbull, Connecticut.
Interview by Alicia Ault