Monday, July 20, 2009

International Rett Syndrome Foundation recognizes Dr. Huda Zoghbi, Dr. Alan Percy

(Cincinnati, OH) - The International Rett Syndrome Foundation (IRSF) celebrated its 25th annual family education and information conference in Leesburg, VA this Memorial Day weekend entitled "Celebrating the Torch Within". Over 250 families and dozens of clinicians and researchers from across the United States participated in this annual event which also recognized the ten year anniversary of the discovery of the MECP2 gene which causes Rett syndrome. On Saturday evening, the Foundation hosted its tribute reception, which featured a keynote address called "How Miracles Are Made" by Carolyn Schanen MD, PhD and Maureen Woodcock, a mother and grandmother of children with Rett syndrome whose family history helped unravel the discovery of the causative gene in this syndrome. "The energy and motivation for research in the RTT field is driven by the patients and their families," said Schanen, who formed a unique partnership with Mrs. Woodcock to see the genetic basis of RTT. At this reception, the foundation presented its annual awards in a touching ceremony, which concluded with a father and daughter dance that brought tears to the eyes of almost everyone in the room. On this ten year anniversary of the gene discovery, Dr. Huda Zoghbi was presented with the foundation's most prestigious research award, The Circle of Angels Research Award. Since the discovery of the gene in her lab, Zoghbi has continued to unravel the puzzle of Rett Syndrome, and her studies have led to a better understanding of how mutations in the gene MECP2 result in the neurodevelopmental disorder. She is a professor in the departments of molecular and human genetics, pediatrics, neurology and neuroscience at Baylor College of Medicine, an investigator with the Howard Hughes Medical Institute in Houston, TX.. Zoghbi, received the Foundation's Circle of Angels Research Award in a recent ceremony at BCM attended by her scientific peers, members of her laboratory and her first Rett Syndrome patient. Kathryn Kissam, chairman of the board of directors of the Foundation, presented Zoghbi with an engraved crystal flame. She received flowers from members of the family of her first Rett Syndrome patient, whose DNA samples were used in the discovery of the MECP2 gene. Dr. Alan Percy, Associate Director of Clinical Neuroscience at the University of Alabama at Birmingham School of Medicine, received the foundation's highest award for a clinician, "The Art of Caring Award". This award was presented by Clifford and Judy Fry, one of Dr. Percy's first patient families. Dr. Percy received a standing ovation from the standing-room-only crowd. Dr. Percy is a beloved physician and highly recognized authority of Rett syndrome and other neurometabolic rare diseases who has been involved with Rett syndrome since the early days. Chuck Curley, former executive director of IRSF and long-time Rett syndrome advocate, received the foundation's "Giving Hope a Hand" Award for his passionate years of service to the foundation's mission to accelerate treatments and a cure of Rett syndrome. Since his daughter, Caroline (13), was diagnosed with Rett syndrome, Chuck has dedicated his life to advocating for Rett syndrome, hosting fundraisers, lobbying Congress, and raising awareness of this debilitating disease. Shelley and Shawn Mansfield of Annandale, Virginia, who serve as regional representatives for the IRSF and on the foundation's Family Advisory Board, received the "Volunteer of the Year" award for their efforts to connect and educate Rett syndrome families, raise funds for research and advance the foundation forward. Contact: Kathryn Kissam 225-810-3687 International Rett Syndrome Foundation Source: International Rett Syndrome Foundation

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