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Researchers discover novel form of the Rett Syndrome protein

ce with every aspect of daily living. There is no cure.

"It is most intriguing that the alternate MeCP2 protein is more abundant in the brain. Understanding its function and how it relates to the symptoms seen in RTT are the next key questions that must be answered. In the short term, this discovery may help identify exon one mutations in the cohort of Rett patients who, to date, have tested negative." stated Monica Coenraads, Director of Research for the Rett Syndrome Research Foundation (RSRF). Founded in late 1999, RSRF is the world's leading private funder of RTT research.

"This began with a simple exploratory experiment by an undergraduate student. The persistence of Dr. Minassian and the rest of the group has led to the discovery of a crucial clue in the understanding of RTT. It will now be important to prove the newly described protein's role in the disease. However, having seen first-hand the impact RSRF funding continues to make promises that one day basic research findings such as this one will eventually translate into clinical applications that will help these beautiful children," said co-author and RSRF Scientific Advisory Board member, Stephen Scherer.


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Contact: Monica Coenraads
monica@rsrf.org
203-445-9233
Rett Syndrome Research Foundation
21-Mar-2004


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