Thank you for your support in building another successful Strollathon season! With 21 Strollathons in 24 locations, we have raised over $1 million dollars in 2012. This included one Strollathon celebrating its ninth year and six more celebrating their first. These events are only successful because of you, our amazing volunteers who lead and participate in them, recruit family and friends to fundraise with you, and who share your personal stories of Rett syndrome with your communities. It is because of your efforts that the Foundation continues to be able to support important Rett syndrome research and clinical trials! Online fundraising pages for Strollathons in September and October will remain open through the end of the year and mailed donations will continue to be accepted for all 2012 events.

Conversations have begun with new and returning Strollathon Chairs for the 2013 season. If you are interested in learning more about bringing a Strollathon to your community, please contact Marcy.

Superstorm Sandy and a canceled marathon didn’t stop Nicky Meehan from completing her 30 miles!

Congratulations to Nicky Meehan, Amy Drysdale, Lissy Binder, Meir Toshav and Jason Weissman for raising over $15,000 as they trained to complete the NYC Marathon. We share in their disappointment that Superstorm Sandy forced the cancellation of the event, but we know that their desire to cross the finish line for Rett syndrome remains strong! Nicky and Amy still ran the 26.2 miles on Sunday morning – that is dedication! All of their online fundraising pages are still accepting donations through the end of the year. Click on an individual name to support that Rett Racer.

The final Rett Racer weekend of 2012 saw Chris Kolendrianos complete the Santa Barbara International Marathon and a team of Racers completing the Rebel Run: Massachusetts. The Rett Rebels participating included Jill Twigg, Jennifer Endres & Justin, Niki Aaron, Colleen Angelopolus, Ana Burke, Colleen Doucet, Christopher Dunn, Dylan, Brody and Larry Fallon, Mike & Kelly Kelly, and Christie Mena. These Rett Racers have added an additional $9,000 in donations to the 2012 total!

Want more information or want to support a Rett Racer? Visit the 2012 or 2013 Rett Racers webpages or contact Marcy Fritter. The Rett Racer program is for any distance or endurance participant who has already registered or confirmed a spot in an event.

Featured Family Fundraiser

October was Rett Syndrome Awareness Month and we launched the Black Out Rett Syndrome campaign which culminated in the fantastic Clint Black concert event in Baton Rouge, LA hosted by IRSF Board Chair, Kathryn Kissam.

This was not the only Black family event during the month of October. For the last eight years, Kevin Black and his friend Dave Clements have hosted a variety of events in Texas in honor and memory of Kevin’s daughter Cortney. This year’s Spending Time Ending Rett events included a fishing tournament, a golf tournament, and a crowd-pleasing concert at the Dosey Doe “Big Barn” in The Woodlands. Kevin was joined on the stage by his son Coleton, the legendary Gary P. Nunn, and Jamie Richards. These events bridge the gap between celebrating our local Rett families and building awareness within the community through Kevin’s draw as a musician. In addition to sponsorships and ticket/participation purchases, each activity also included a live and silent auction, and raffles.

Congratulations on another successful year of events and thank you for your continued support, Kevin and Dave!

MeCP2 is critical for maintaining mature neuronal networks and global brain anatomy during late stages of postnatal brain development

Contributed by: Nurit Ballas, PhD

It is well established that mutations in the X-linked gene Methyl-CpG-binding protein 2 (Mecp2) cause Rett syndrome (RTT) at a specific postnatal stage. Although the mutation is present from birth, RTT syndrome in humans and mouse models is overtly manifest postnatally. The latency period to symptom initiation is about 12-18 months in human RTT girls, and 6-8 months in female afflicted mice, and approximately 5 weeks in the male mice. Recently, the Zoghbi, Bird and Ballas groups showed that loss of MeCP2 postnatally, even at adult stage, gave rise to the same spectrum of severe symptoms as when MeCP2 was lost at birth, suggesting that the primary requirement for MeCP2 in the brain occurs at a stage when many neuronal connections are already formed. The extreme dependence of MeCP2 at this late stage of brain maturity was surprising, so Dr. Ballas and colleagues sought to perform an in depth analysis of the abnormalities to help explain why the brain required MeCP2 at this stage.

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Drug Reverses Abnormal Brain Function in Rett Syndrome Mice

A few weeks ago, a promising new study was published in the Journal of Neurosciences by Dr. David Katz and his colleagues at Case Western Reserve University that demonstrated that in a mouse model of Rett syndrome they were able to reverse abnormalities in brain activity and improve neurological function by treating animals with an FDA-approved anesthesia drug, ketamine.

The authors sought out to create the first global map of neural activity in the RTT brain to understand the brain’s circuitry dysfunctions in Rett syndrome. In order to do this, they compared brains from Mecp2 mutant mice and normal mice by tracking markers of brain activity. These comparisons found that there are two regions in the brain where neural activity differed in the RTT brain. First, the forebrain, which controls nearly all processes in the Central Nervous System, was found to have less neural activity in the RTT brain compared to the normal brain. Second, the brainstem, which is responsible for basic vital life functions such as breathing, heartbeat, and blood pressure, was reported to have abnormally high neural activity in the RTT brain compared to the normal brain. By identifying that these brain structures have such different activity levels in the RTT brain, they were able to begin focusing on these areas to see if they could modify the abnormal activity.

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Settings standards for research into Rett syndrome

In September of 2011, a workshop focused on the state of the art in animal studies of Rett syndrome (RTT) was convened by the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the International Rett Syndrome Foundation (IRSF) and the Rett Syndrome Research Trust (RSRT). A broad cross-section of basic scientists, clinicians, and representatives from the National Institutes of Health (NIH), the Food and Drug Administration (FDA), the pharmaceutical industry and private foundations attended the workshop in order to identify crucial knowledge gaps and to suggest scientific priorities and best practices for the use of animal models in preclinical evaluation of potential new RTT therapeutics. On October 31, the outcomes of this workshop were published as an Open Access review article, authored by several workshop participants, in Disease Models & Mechanisms (DMM). As explained in this article, the combination of an urgent need for effective treatments for RTT, coupled with the availability of good mouse models, is a driving force for studies that can identify and test new drugs.

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Research Webinar

Spare time over the holidays? Be sure to watch IRSF’s webinar recording from Oct. 23rd of Jennifer Larimore, PhD, Agnes Scott College and IRSF funded investigator, presenting “From Mind to Molecules: Neurobiology of RTT." Fresh from the annual Society for Neurosciences meeting, we heard the latest news in easy to understand terms. Fact: did you know that in 2 minutes, your brain consumes more energy than your legs need to run a marathon? Nourish your brain with this webinar, and nourish those brains of our children with Rett syndrome by exposing them to an enriched and varied environment every day!

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IRSF FAMILY EDUCATION AND AWARENESS CONFERENCE – SAVE THE DATE!

The 29th annual conference will be in Midway, Utah, from June 27 – 29, 2013 (Thursday evening – Saturday evening). Start planning now. This conference is THE place to meet with the experts, make new friends and learn all things Rett-related: school and communication, therapies, medical issues, life planning, and everything current about research and clinical trials. Join us! Online registration will open end of January 2013.

IRSF Holiday Cards

Since IRSF has received such an overwhelming response for this year’s Holiday Card design, we have decided to extend the deadline into early December! Get your Holiday Cards today & Keep Rett syndrome in mind while wishing your family and friends Happy Holidays!

$15 per pack

Each pack contains 12 cards and envelopes (Two pack order minimum)

Click here to order yours today!

Note: Due to fixed shipping and handling fees, we will be unable to accept international orders.