In This Issue

Research

Investigator Spotlight: Lisa Monteggia, PhD, University of Texas Southwestern Medical Center

Dr. Lisa Monteggia of the University of Texas Southwestern Medical Center received a Regular Research Grant last year for her project titled "Elucidation of Epigenetic Mechanisms in Rett Syndrome." The project involves studying changes that occur in neurons as a result of mutations in MeCP2. This year Dr. Monteggia will Co-Chair a Session at IRSF’s 12th Annual Rett Syndrome Symposium in Leesburg, VA.

Learn more about Dr. Monteggia and her research.

Genzyme takeover may boost interest in rare diseases

The field of rare diseases has gained more attention, not just from pharmaceutical companies but from the FDA and the NIH and is likely to draw more interest from other biotech companies, following the acquisition of the pharmaceutical company Genzyme, who are the world’s largest maker of rare disease drugs. Genzyme previously formed a partnership with the company PTC therapeutics and have been working to develop the drug Ataluren which is currently being tested by researchers working on Rett syndrome.

For more on this story: click here

IRSF Announces Planning Underway for 7th World Congress on Rett Syndrome

Following the 6th World Congress on Rett Syndrome, which took place in Paris, France in 2008, IRSF agreed to host the 7th World Congress on Rett Syndrome and the Foundation is proud to say that planning has commenced. This 2012 international, interdisciplinary meeting will take place June 24th through June 28th, 2012. It will bring together speakers and luminaries in the field of Rett syndrome together with families, IRSF staff and a host of other colleagues and professionals in the culturally rich city of New Orleans, LA.

Learn more

Happenings

Featured Angel: Kaitlyn Kelly

My name is Kaitlyn Kelly and I am from Bladenboro, NC.

I am 4 years old and I am a Pre-K student in Mrs. Debbie Simmons class at Whiteville Primary School.

Mrs. Debbie is such a wonderful teacher; she actually is the one who told my mommy to have me checked out for Rett syndrome! (Thank you, Mrs. Debbie. More than you’ll ever know).

Learn more about Kaitlyn and her family

Annual Family Conference 2011

Register NOW for Your Early Bird Discount!
"Cheers to Research to Reality"
May 27-30, 2011*
The Boston Park Plaza Hotel
Boston, MA

Please join us at the IRSF Annual Family Conference this year. This conference is the only one of its kind where parents, caregivers, extended family and professionals come together to learn current care and advocacy strategies and the latest in research and clinical trials. *Early Bird Rate: $260 per person for Full Conference Registration and $160 for Single Day Registration Before April 17th.

*Early Bird Rate: $260 per person for Full Conference Registration and $160 for Single Day Registration Before April 17th.

We’ve packed our agenda with new and exciting speakers, exhibitors and more!
 Motivational keynote by Massachusett’s own Dick Hoyt of Team Hoyt
 Leading Research experts from Boston Children’s, Harvard and MIT, including IGF-1 Clinical Trial Investigator Dr. Omar Khwaja
 Communication experts Susan Norwell and Judy Lariviere
 Sessions on therapies, education, family foundations, financial and legal life planning
 First-ever sessions for the Spanish-speaker
 First-ever entire track of sessions on the direction of research

Don’t miss your chance to build and grow your knowledge, expertise and awareness of Rett syndrome. Plan ahead and take advantage of our early-bird registration prices. This is an investment in YOU!

Register Now!

Judy and Clifford Fry, of College Station, Texas, used this Rare Disease Day as a way to educate a new group of individuals about Rett syndrome. Just as we use October Awareness Month as our time to push advocacy for Rett syndrome, Judy and Clifford, parents of Ashley, spread awareness through an article in Insite Magazine. "The governor proclamation gave me the foot in the door with these folks," Clifford said. “I tried to get an article last year (October), but they put off publishing an article about Ashley until this February. Judy and I will still use this locally and with friends as well as in our fund raising efforts supporting the Texas Strollathons.”

Click here to read the article (pp. 20-23)

You can also visit www.rarediseaseday.org to learn more about what others did on February 28th to spread awareness for the cause close to their hearts.

If you love helping us fight for a cure for Rett syndrome then tell the world! You have an exciting opportunity to help us make an even bigger impact in our community. Charity Navigator has partnered with GreatNonprofits to enable people to share their stories about nonprofits that have touched their lives!

Please help us raise visibility and support by posting a review. All reviews will be visible to potential donors and volunteers.

It only takes a few minutes! Go now!

Brain Behavioral Relationships

Brain behavior relationships in Angelman Syndrome, Rett Syndrome, and MECP2 duplication syndrome.

We want to follow:
 Children with Angelman syndrome, Rett syndrome, and MECP2 duplications.
 Who are between the ages of 3-10.

For all participants:
 We will do an assessment of your child’s development and behavior.
 Have your child look at images on a computer screen to track the movement of their eyes, and their responses to different facial expressions.
 Have you complete forms about your child’s behaviors and sensory interests/aversions.
 You will receive a report of your child’s developmental abilities at no cost.

We will compensate families for their time.

Contact: This e-mail address is being protected from spam bots, you need JavaScript enabled to view it (615) 322-8093

Take a BOLD action this year and help us fight for a cure for Rett syndrome! Set your 2011 resolution NOW to get involved and make a difference. Our Rett angels take on each day 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! IRSF makes it easy to get involved. Your help is our hope; your help is their hope.

Are you holding an event in 2011? Fill out this form and send back to Jenni Grammer at This e-mail address is being protected from spam bots, you need JavaScript enabled to view it

The Rett Gazette

Keep an eye out for the latest issue of the Rett Gazette which should hit mailboxes sometime between late March and early April! This issue is one of our best yet - packed with information on the Revised Diagnostic Criteria, Conference, research updates, recent news, family support updates and MORE! Don’t miss your chance to educate yourself and stay connected.

Check out some of our past issues

Sign up to receive the Rett Gazette

IRSF is excited to announce a new fundraising partnership with Henhouse Coffee. Henhouse Coffee is a Colorado based specialty coffee roasting company. You can now buy your premium coffee AND contribute to finding a cure for Rett syndrome without ever leaving your home!

Visit www.Henhousecoffee.com to place your order for Henhouse Coffee and to lend support to IRSF. Browse the website to learn more about Henhouse, the art of coffee roasting and discover which brew is right for you. When you’ve decided, click “Buy Online” and make your selection. BE SURE to select IRSF under “Support a Partner Organization”. The coffee will be shipped directly to your door and IRSF will receive a donation of $3.50 per 12 oz. bag.

The Spirit of Giving!

Try out our NEW IRSF App, a safe, free and revolutionary approach to online giving. Every purchase and search you make online can generate money for IRSF. Please download The IRSF APP. We can now raise money from big online stores such as Amazon, Skype, EBay and thousands of others at no cost to you. Simply download the IRSF App using Firefox, Internet Explorer or Chrome and continue searching and shopping as usual. You can choose to install the app as a toolbar or as a small icon . It only takes a minute to download. If you do not like the app, it takes one click to uninstall.

Help us spread the word among your family and friends.