Visit the website now to view meeting information essential for making your travel plans.

May 11th is the deadline for Early Registration Discounts, Journal Ad Submissions, Sponsorships as well as Tribute Video & Photo Button submissions! The Congress is less than 9 weeks away, make your travel plans now!

We look forward to seeing you in New Orleans!

worldcongress.rettsyndrome.org

Please Welcome IRSF’s NEW Staff Member: Marcy Fritter, Manager of Special Events!

IRSF is pleased to announce that we have concluded our extensive search to fill the Manager of Special Events position. Marcy Fritter joined IRSF officially this April. Her primary role is to provide support and guidance to event chairs as we continue to build on our Strollathon success. In addition, Marcy will be involved in a variety of other volunteer-led special events, as well as identifying new event opportunities for the Foundation.

Marcy comes to IRSF from the Crohn’s & Colitis Foundation of America, Greater Washington DC/Virginia Chapter. As the Director of Development, she successfully grew their walks and other special events. She also previously served as a regional walk manager and staff support for volunteers planning their own fundraising events. We are excited to bring her experience to our organization.

We are pleased Marcy is on our staff and have no doubt she will contribute toward our goal of developing effective treatments and discovering an eventual cure for Rett syndrome. Please join us in welcoming her to our family..

Investigator Spotlight: Jeffrey Neul, MD PhD, Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital and Baylor College of Medicine

With winter having passed by quickly and spring in the air, IRSF is busily preparing for the World Rett Syndrome Congress taking place this June. With that in mind, we are eager to highlight the dedicated scientists who have planned this highly anticipated event to be held for the first time in the US in New Orleans, LA. This month we are pleased to move the spotlight onto Dr. Jeffrey Neul from the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital and Baylor College of Medicine in Houston, TX. Dr. Neul is the Chair of the Translational and Pre-Clinical Research Symposium at the World Congress. He has put together an exciting program where current knowledge in translational and clinical research on Rett syndrome will be presented and discussion on methods to accelerate these fields will be encouraged.

Read More...

Disorders of Synaptic Dysfunction

A Message from IRSF Chief Science Officer, Steve Kaminsky

Greetings All:

I want to report on a recent symposium IRSF helped sponsor at the Jan and Dan Duncan Neurological Research Institute at the Baylor College of Medicine in Houston, TX. The symposium entitled “Disorders of Synaptic Dysfunction” was organized by Dr. Huda Zoghbi (NRI Director, HHMI Investigator, Baylor College of Medicine) and Morgan Sheng (V.P. of Neuroscience at Genentech).

Throughout the symposium, there was a focus on autism spectrum disorders with a concentration on Rett syndrome, Angelman syndrome and Fragile X syndrome. What was most exciting were reports of the reversal of disease phenotypes in both Fragile X and Angelman syndrome mouse models. These reversals join the reversal seen in Rett syndrome mouse models, and taken together speak to the neuroplasticity in these post natal neurologic disorders.

Each of these reversals have been accomplished through different biologic manipulations, and this encourages us that there are a number of approaches to treat these disorders. For more details, please see the following announcements.

Announcement 1
Announcement 2

Thank you for your interest and strong support. Please let us know if you would like more information.

Sincerely,

Steve

Announcing: A DNA repository for Rett Syndrome

Since the seminal discovery in 1999 that mutation in the gene encoding Methyl-CpG binding Protein 2 (MECP2) is the causative factor of Rett syndrome (RTT), it has been reported that the majority (95%) of individuals with RTT have some type of MECP2 mutation. While there are distinct clinical features of RTT, there has been much observation that clinical severity is not due to specific mutations of MECP2. Instead, the severity of these clinical features is widely variable in those diagnosed with RTT, and it is this variation that indicates genes other than MECP2 may contribute to clinical severity.

This month’s Investigator Spotlight features physician scientist Dr. Jeffrey Neul of the Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital who will create a DNA repository for Rett syndrome. The IRSF Board of Directors has recently voted to fund this important venture that will yield significant discoveries in other underlying genetic components of RTT.

To create the repository, blood will be collected from people enrolled in the Rett Syndrome Natural History study and from the parents of the affected individuals. The blood samples will be de-identified and labeled with a unique identifying study number linked to accumulated clinical research information. DNA will be isolated using standard techniques and stored for qualified investigators to collaborate on genetic testing for specific hypotheses or open-end genetic screening. The overarching goal of this DNA repository will allow for the identification of other genetic causes of RTT and the determination of the role various genetic factors play in modifying the clinical severity in RTT.

For those enrolled in the Rett Syndrome Natural History Study, families will be contacted in the spring to determine their willingness to participate in this important endeavor.

Eye-Tracking Technology shows Social Preferences in Rett Syndrome

Cognitive Abilities of Rett Syndrome Patients have been Underestimated for Decades says pilot study published in the April edition of Pediatric Neurology. Your IRSF donations helped fund this important work. We wish Dr. Djukic continued success in her research, and IRSF is very encouraged by the companies, developers and communication experts investing in break-through technology that will enable communication for our children today - while we work toward understanding the underlying cause of speech loss in early childhood and finding real treatments for the majority of those affected by Rett syndrome.

Read More...

Social Preferences in Rett Syndrome
Aleksandra Djukic, MD, PhD and Maria Valicenti McDermott, MD
Rett Syndrome Center, Montefiore Medical Center, Albert Einstein College of Medicine
Abstract
Article

Featured Angel: Ava DePerry

Hello to all!

My name is Ava DePerry. I am called “The –Earth’s –Angel.” I am 5 years old and I was diagnosed with Rett syndrome at the age of two. I developed normally up until nine months old. At that time my parents noticed I wasn’t doing the things my big sister was doing when she was nine months old. My Parents were concerned and took action. I had seen so many doctors and they all gave a different diagnosis - none of them were correct.

Learn more about Ava and her family...

Team Havana Run in Bali

The marathon was an amazing experience! As Team Havana we were five runners, a relay team. I didn't actually start running till kilometer 24, but then ran to the finish from there to kilometer 42.2. That's 11.3 miles (and the farthest I've ever run!) We had a strategic plan where I would pick up Havana a kilometer before the finish. I really wanted to cross the finish line with Havana to help with the impact of raising awareness of RTT. Havana loved the experience! We all did. The marathon organizer gave her a medal as well.

One of the surprises while putting this team together was that another of the runners has a cousin with Rett syndrome in Australia. Our team had one Italian, one Brazilian, two Australian and one American.

I hope you don't mind that I changed the shirts into tank tops. The IRSF logo was moved to the back. I think they turned out really nice and they were comfortable to run in.

We always noticed that Havana brings amazing people into our lives, and here it happened again in the form of Team Havana.

Ready to run again.

With Love and Thanks,

Chantele

Congratulations Alison!

Alison Rinkenberger claimed the GOLD MEDAL for the 10 meter assisted race (walker race) and SILVER in the Ball throw! “If she had been throwing sippy cups instead of tennis balls she would have snagged the Gold in that event,” said Pati Mitchell, Alison’s grandmother.

Take bold action this year and help us fight for our girls and women fighting Rett syndrome! Set your 2012 resolution NOW to get involved and take part. Every day our angels with Rett syndrome face the world with a brave face as they patiently wait for us to find treatments and a cure. IRSF has hit the ground running this year – make this the year you get active and give hope to thousands. Take part in a local IRSF Strollathon, host your own IRSF Signature Event, or create an online fundraising page! Click here for an A-Z list of easy fundraising ideas to get your office, kid’s school or your community on board with fundraising for your Rett angel! IRSF makes it easy to get involved.

Your help is our hope. Your help is their hope.

Love Is Two People Talking

“Love Is Two People Talking” is a heartwarming story about the importance of communication between family and friends. It examines a myriad of emotional issues including old age, alienation, physical illness, suicide and one’s relationship with the Creator. The story is loosely based on Dr. Banov’s personal experiences living with Parkinson’s Disease and his relationship with his daughter who has Rett Syndrome, a type of developmental disease.

Love is Two People Talking - Full Text 7.24 Mb
Love is Two People Talking - Press Release 59.42 Kb

Featured App: NHGRI Talking Glossary of Genetic Terms

Talking Glossary of Genetic Terms features more than 250 common genetic terms pronounced and explained in an easy-to-understand way by leading scientists and professionals at the National Human Genome Research Institute (NHGRI).

State Facebook Pages!

Some of your Regional Representatives have created state Facebook pages! The mission of these pages is to connect the families of each state impacted by Rett syndrome in a place where many of you already are – FACEBOOK! Utilize your state’s page to chat about Rett syndrome issues, share in the excitement of IRSF events and connect with individuals near YOU.

Search for your state's page today!

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