Fall is Party Time for Rett Research!

This fall, there are several social events being held around the country to raise awareness and dollars for Rett Syndrome research. This past June, the New York City Picture a Cure Benefit kicked off the social event season with a bang - raising over $430,000 for research.  We will be adding to that total this fall in the following cities - Miami, Boston, Chicago and Washington D.C.  We need your help making these events a success. If you would like more information on these events or would like to serve on the event committee, please contact Craig Robertson, RSRF Executive Director, at 518.373.0687 or monica@rsrf.org.  You can also find more information on these events by clicking here.

	Miami, FL		Sep. 28th		Ferragamo's (Bal Harbour)		Picture a Cure Benefit
	Boston, MA	Nov. 3rd	The State Room	Festival of Food & Wine
	Chicago, IL	Nov. 4th	Bristol Court	New Year, New Hope Charity Dinner
	Washington D.C.	Nov. 18th	Mandarin Oriental Hotel	Festival of Food & Wine

 

Strollathon Program Rolls On

RSRF's Strollathon program is off to a wonderful start this summer. To date, events have been held in Stamford, CT, Harrisburg, PA and Cape Cod, MA.  In all, these three events have been attended by over 1,500 people and have raised over $335,000! That is a lot of awareness being generated and a great deal of money being raised for research. Congratulations to Event Chairs Kristy Kramer (PA), Monica Coenraads (CT) and Jennifer & Justin Endres (MA) on their fabulous efforts.

Four more Strollathons are scheduled over the next few months. Below is a listing of the events. If you would like more information or would like to support these events, please contact the respective Event Chair or Craig Robertson, RSRF Executive Director, at monica@rsrf.org or click here to go to the RSRF website.

Still to Come in 2005

	City		Location		Date		Event Chairs		Contact Info
	Seattle, WA	Bradley Park	Aug 27	Jeff & Laurie Huisingh	quadrifon@aol.com
	Roanoke, VA	Garst Mill Park	Sept 11	Karin Shuck	shuckstar@cox.net
	Charlotte, NC	Pineville Park	Oct 1	Debbie Devere Ricki O'Connor	ddevere@guaranteeins.com
	Cincinnati, OH	Bicentennial Commons	Oct 8	Kay Maynard	kmayn31@yahoo.com

Rett Syndrome Research Foundation Commits A Record $2.2 Million for 2005 Research Awards

Over $ 8.75 Million Invested in High-Impact Research Since 2000

August 15, 2005 - The Rett Syndrome Research Foundation (RSRF) announced today that it has awarded $2.2 million to fund 17 cutting edge projects aimed at accelerating treatments and a cure for Rett Syndrome, a devastating neurological disorder diagnosed almost exclusively in girls. Awards include Grants of Excellence to Accelerate Rett Research (G.E.A.R.), Research Grants and Post-Doctoral Fellowships. Click here for more information.

NIH Funding Table for  Various Diseases Available Online

The National Institutes of Health has posted on its Web site a revised table displaying funding levels for various diseases, conditions and research areas based on actual grants, contracts and research conducted at NIH. Rett Syndrome appears on this list after much lobbying on the part of RSRF. The table also provides funding estimates for FY2005 and FY2006. To view the table click here.  

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome

This European research group, with funding from RSRF, studied 140 individuals with Rett Syndrome in an attempt to correlate mutations with symptoms. Click here to read the abstract and lay summary.

p.R270X MECP2 mutation and mortality in Rett syndrome

An Australian group found that the mutation pR270X was a common one. Recent analysis from other labs seemed to show an under-representation of this particular mutation. A study looking at over 500 individuals with Rett from Australia and the UK revealed that the underrepresentation of this particular mutation in older girls with Rett is probably due to a higher mortality rate associated with it. Click here to read the abstract.

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

A very interesting paper from a Belgian group showing that too much MECP2 causes a severe neurological disorder and may be a common cause of mental retardation in males. Click here to read the abstract and lay summary.

Early onset seizures and Rett-like features associated with mutations in CDKL5

Mutations in a gene called CDKL5 (also known as STK9) can cause symptoms very similar to those seen in Rett. This international group analyzed CDKL5 in 94 indiviuals with a Rett or Rett-like clinical diagnosis. The paper reports on the outcome of the analysis. Click here to read the abstract.

Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome

This European group, with RSRF funding, identified two genes, Sgk1 and Fkbp5, that are either directly, or indirectly, regulated by MeCP2. Click here to read the abstract and lay summary.

Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome

This paper reports on the findings of a multicenter study to test levels of 5-methyltetrahydrofolate in the spinal fluid of 76 girls and women with Rett. Click here to read the lay summary.

Buspirone in Rett syndrome respiratory dysfunction

This study details a case of Rett Syndrome where the patient's respiratory dysfunction was improved after buspirone was administered. Click here to read the abstract.

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.