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Angelman Syndrome Foundation National Walk

Thousands of feet across the United States hit the pavement on Saturday, May 19 to support the Angelman Syndrome Foundation (ASF) in its search to find a cure for Angelman Syndrome (AS), a neurodevelopment disorder similar to autism. The ASF hosted 30 walks in 30 cities across the country—which were attended by more than 10,000 supporters who raised approximately $900,000 to date—in support of individuals with AS. The Chicago-area Walk, which is where the National Walk started 14 years ago, was attended by more than 600 people. Fundraising continues through September 30, 2012 and supporters can donate online by visiting www.angelman.org to help the ASF reach its $1 million goal.

“The entire AS community is incredibly thankful for the overwhelming support we received this year. The National Walk provides the rare opportunity for families and individuals with AS to spend time together in a supportive, fun environment—it is essentially a nationwide family reunion that we are honored to host,” said Eileen Braun, Executive Director of the ASF, which is headquartered in Aurora. “Our goal is to reach $1 million this year and we are well on our way, but we certainly hope that those who were unable to join us for the Walk will consider donating and helping us reach this goal. These funds allow us to advance our mission of funding research towards finding a cure, raising awareness about AS, and providing direct support to families and individuals with AS. Thank you for giving our loved ones an even better reason to smile.”

Individuals affected by AS typically exhibit a happy demeanor characterized by frequent smiling, laughter and excitability. Occurring in one in 15,000 live births, AS is a congenital disorder similar to autism that causes severe neurological impairment that most commonly appears in newborns and lasts throughout their lifetime. During fetal development, the loss of function of a particular gene in the brain occurs, resulting in neurons functioning incorrectly and causing deficits in development. Individuals with AS experience developmental delay, seizures, walking and balance disorders, and most are unable to speak.

The dollars raised through the National Walk fund important research projects and provide direct support to families and individuals with AS. In December 2011, a team of scientists and doctors at the University of North Carolina (UNC) at Chapel Hill led by Dr. Ben Philpot, Ph.D.—and funded by the ASF—announced their research discovery, which revealed that a drug compound currently used in the treatment of cancer might also be useful in treating AS. For the first time in history, this drug compound has been used to restore proper function to the gene—Ube3a—that is believed to cause AS. Proven effective in a mouse model, the team is now moving into pre-clinical trials to conduct further research, which is essential to determining the right compound, the right dosage and the right delivery method prior to conducting clinical trials. Also at UNC’s Carolina Institute for Developmental Disabilities is the nation’s first AS clinic, funding for which was provided by the ASF. It is the first clinic in the country that provides “one-stop-shop” access to a clinical geneticist, neurologist, psychiatrist, psychologist, speech language pathologist, physical / occupational therapist, genetic counselor, social worker, and nutritionist whom all specialize in Angelman syndrome.

For more information about AS or the ASF, or to make a tax-deductible donation, please visit www.angelman.org or call 800-432-6435.


ABOUT THE ANGELMAN SYNDROME FOUNDATION
The Angelman Syndrome Foundation's mission is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. The ASF sponsors Angelman syndrome research through grants to researchers pursuing promising avenues of discovery. Since 1996, the ASF has funded 66 research grants totaling more than $4.6 million. The ASF has awarded a majority of these funds ($4.3 million) beginning in 2005. For more information about the ASF, please visit www.angelman.org.

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ALL PHOTOS WERE TAKEN BY: MELISSA PETERSON

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