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Rare Disease Awareness Month: Rett Syndrome

October 9, 2013
Girl Power 2 Cure For Rett Syndrome Widget

The International Rett Syndrome Foundation (IRSF) is promoting October as Rett Syndrome Awareness Month. Rett Syndrome (RTT) is a devastating rare neurological disorder that almost exclusively affects girls. For information on helping to promote RTT, check out the website for ideas.

Another advocacy group, “Girl Power 2 Cure (GP2C)”, a 501c3 nonprofit organization, is dedicated to raising awareness and funds for treatments and a cure for RTT. GP2C is founded by Ingrid Harding, a mother of a daughter with the rare disease. The organization is helping girls and families suffering from RTTsi nce 2006. GP2C supports girls for planning and implementing events that raise awareness and funds for RTT research and also supports families with fundraising help, resources, and awareness tools. GP2C identifies with the symbolism of the flower:

“Our inspiration is our flower: always in bloom with hope and positive energy, ready to grow anywhere there is someone ready to join in our mission.”

GP2C runs two other websites:

•   “Dress Up 2 Cure”, an annual April fundraiser, where one dresses things up with the organization’s flower
•   RettGirl.org, which is an online support database and community for families around the world who are caring for a child with RTT (girls who have RTT are often referred to as “Rett Girls”.

RTT is a postnatal neurological disorder that is first recognized in infancy and almost exclusively affects females. RTT is a rare disease that is often misdiagnosed as cerebral palsy or autism. RTT quick facts:

•   Caused by mutations on the X chromosome, on a gene called MeCP2
•   > 200 different mutations found on the MeCP2 gene
•   Occurs worldwide in 1 of every 10,000-23,000 female births
•   Causes problems with brain functions that are responsible for cognitive, sensory, emotional, motor, and autonomic function.

An online article, published in August 2013, in the Journal of Neuroscience, describes the success of a gene therapy study in mice for Rett Syndrome.  The study in the Journal of Neuroscience, is led by Gail Mandel, a molecular biologist at the Oregon Health and Sciences University. Dr. Mandel’s research team is the first to show the reversal of RTT symptoms in fully symptomatic mice using gene therapy techniques. Dr. Mandel uses Adeno-Associated Virus Serotype 9 (AAV9,) which allows the virus along with the MECP2 gene’s most important segments to be administered intravenously into the RTT mice. Safety studies and other key steps need to be completed before this gene therapy is ready for clinical trials with human volunteers.

References

Girl Power 2 Cure, Inc.

International Rett Syndrome Foundation

Kate Foundation for Rett Syndrome Research

RareConnect Rett Syndrome Community

Rett Syndrome Research Trust.

Please Note: “Girl Power 2 Cure” widget courtesy GP2C.

Copyright © 2012-2013, Orphan Druganaut Blog. All rights reserved.

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