Rett Syndrome – General

RSRF and IRSA merge to form the International Rett Syndrome Foundation

Publisher’s note:

This is exciting news for the entire Rett Syndrome Community! As members of IRSA and long time supporters of RSRF, we look forward to being of service to this newly combined organization. Here is the press release in its entirety:

News Release:

Monday, June 04, 2007

Rett Syndrome News Release

For Immediate ReleaseJune [...]

Rett Press: Big Bucks: Novartis focusing on rare diseases such as Rett Syndrome

Forbes Magazine reports that Novartis has compounds in preclinical tests that target Rett syndrome, a rare inherited brain [...]

Rett Syndrome Fundraiser: Cape Cod Strollathon

Rett Syndrome Strollathon Fundraiser at Cape Cod Massachusetts USA. Contributions support Rett Syndrome [...]

Rett Syndrome Fundraiser: Elk Grove, IL April 28, 2007

From the serious runner to the recreational runner, to family members and friends of all ages Run For Rett is an event you don’t want to miss. Make a difference in the life of those affected by Rett Syndrome; join us for the Run For Rett 5K Run/Walk & 1 Mile Fun Run. April 28, 2007 Elk Grove, [...]

An explanation for another familial case of Rett syndrome: maternal germline mosaicism

We describe one of the few familial cases of RTT in which a maternal germline mosaicism is the most likely explanation. The mutation p.Arg270fs (c.808delC) was identified in both a girl with classical RTT and her brother who had the severe neurological phenotype usually described in males. The mutation was absent in DNA extracted from blood of both [...]

Clinical Trial: Clinical and Immunological Investigations of Subtypes of Autism

Clinical Trial: The purpose of this study is to learn more about autism and its subtypes (including Rett Syndrome). Autism is a developmental disorder in which children have problems with communication and social skills and display restricted interests and repetitive [...]

Ten years of searching and learning

I first learned about Rett Syndrome around ten years ago. A devoted physical therapist mentioned her suspicion that our daughter had Rett Syndrome during a therapy session. The disorder seemed to perfectly describe my two year-old daughter’s apparently imperfect health condition. The best doctors at one of America’s finest University hospitals missed the diagnosis altogether [...]

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