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Rett Syndrome
Understanding the Disease By C.J. Johnson
with more than 800 pages of valuable information, an 800 toll-free help line (1-800-818-RETT), an online list server with 600 families, numerous publications and a quarterly newsletter." Rett ResearchMonica Coenraads of Trumbull, Conn., first learned of RS when she was researching the syndrome on the Internet. At that time, her child was just 17 months old. Although her daughter did not yet display all the symptoms of RS, her mother's intuition told her she had found the appropriate diagnosis. "I had an urgent need to understand the state of RS research," she says. She spent the next year with a phone glued to her ear speaking to researchers within the RS field.
Coenraads has also networked extensively with parents who started research foundations, and she benefited greatly from their experiences. At the end of that year, she concluded her daughter and countless other affected girls would benefit from an organization that could devote itself exclusively to research. She connected with five other parents who shared her feelings of urgency and who were equally committed to seeing research accelerated. Together they established the Rett Syndrome Research Foundation (RSRF).
In October 1999, it was discovered that a mutation in the MECP2 gene on the X chromosome was responsible for Rett syndrome. It has been determined that it is the regulatory gene that, when functioning properly, shuts down other genes. In RS the gene is mutated, and these downstream genes are thought to stay turned on, leading to the array of symptoms. The process by which genes regulate other genes is currently a very popular topic in science. Scientists now have a disease model to study these important mechanisms.
Animal models are crucial tools to further the understanding of the neurobiology of the disorder and to test potential interventions such as drugs or gene therapy. RSRF funded, in part, a mouse model developed by Dr. Rudolph Jaenisch at Whitehead Institute in Cambridge, Mass. These animal models are helping to unravel the mysteries of the disorder.