Progress Reports for RSRF-Funded Projects Available Online

Interim 1-year progress reports for projects awarded in 2004 are now available online.
Final reports for projects awarded in 2003 will be available in early December.  

Your Participation in the Mutation Databases is Needed

MeCP2.org.uk
The goals of this database are aimed at ascertaining whether correlations exist between specific mutations and certain symptoms and how symptoms change over time. Drs. Brian Hendrich and Skimantas Kriaucionis from the University of Edinburgh invite all parents of children with Rett Syndrome children who have tested positive for MECP2 mutations to submit symptom information directly to their database via an online questionnaire at: www.MeCP2.org.uk. Please note that anyone wishing to submit information will first have to register.

Parents who have previously submitted a questionnaire to the original database, www.homepages.ed.ac.uk/skirmis, will also need to register and submit updated information. All parents are encouraged to submit a questionnaire once a year. This will allow the investigators to keep track of your child's symptoms over time.

InterRett
This project collects information about the features of Rett Syndrome from parents and clinicians. These details are then collated to form an online searchable database. To participate email rett@ichr.uwa.edu.au. You will be sent details about entering your information online.

RettBASE
This database has been constructed by merging mutation and polymorphism data from the published literature pertaining to Rett Syndrome and related clinical disorders, and by incorporating unpublished mutation and polymorphism data that have been submitted directly. Information can only be submitted by clinicians or the testing labs. Please encourage your child's doctor to contribute to this database.

A case of massive gastric necrosis in a young girl with Rett Syndrome

This is the unusual case of a 17-year-old girl with Rett who suffered acute abdominal distension and constipation for a week. Click here to read the abstract.

DNA Binding Selectivity of MeCP2 Due to a Requirement for A/T Sequences Adjacent to Methyl-CpG

This work, by RSRF SAB Chairman Adrian Bird, will aid the discovery of potential MECP2 downstream genes. To read the abstract and lay summary, please click here.

Lost in translation: Translational interference from a recurrent mutation in exon 1 of MECP2

These Australian investigators have made an interesting discovery with regards to the MECP2 isoform discovered last year. To read the abstract and lay summary, please click here.

Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis

A new technique which may help to confirm clinically diagnosed Rett Syndrome patients who, to date, have tested negative for mutations in MECP2. To read the abstract and lay summary, please click here.

Classic Rett syndrome in a boy with R133C mutation of MECP2

Classic Rett syndrome in a boy with R133C mutation of MECP2. To read the abstract and lay summary, please click here.

Survey on ketogenic diet and VNS

RSRF is conducting surveys to gather information on the efficacy of the ketogenic diet and Vagal Nerve Stimualtion (VNS) for children and adults with Rett Syndrome who suffer from intractable seizures. If your child has tried the ketogenic diet, please participate in our survey by clicking here. If your child has a VNS please click here. Data compiled from this survey will be shared with you via the RSRFNewsAlert, website and quarterly newsletter. The data will also be made available to the research community. We thank you in advance for your help.

Children with sudden onset of continuous seizures benefit from propofol treatment

Propofol is a safe and effective drug to treat children with refractory status epilepticus, and it is recommended before thiopental, according to a study in the August 23, 2005 issue of Neurology. Propofol and thiopental are widely used intravenous anesthetics which are also known to help control seizures. Researchers in the Netherlands examined the effects of propofol and thiopental in 33 children (34 episodes total) with refractory status epilepticus. Refractory status epilepticus is a state in which seizures occur in rapid succession without recovery of consciousness between them. These seizures are resistant to treatment and persist for more than 60 minutes. To read this press release please click here. 

The Other Brain Also Deals With Many Woes

Two brains are better than one. At least that is the rationale for the close - sometimes too close - relationship between the human body's two brains, the one at the top of the spinal cord and the hidden but powerful brain in the gut known as the enteric nervous system.

For Dr. Michael D. Gershon, the author of "The Second Brain" and the chairman of the department of anatomy and cell biology at Columbia, the connection between the two can be unpleasantly clear. "Every time I call the National Institutes of Health to check on a grant proposal," Dr. Gershon said, "I become painfully aware of the influence the brain has on the gut."  To read this New York Times article please click here.