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.
About Rett Syndrome
Rett syndrome (RTT), a brain disorder affecting development in childhood, has been identified almost exclusively in females. RTT results in severe movement and communication problems following apparently normal development for the first six months of life. The characteristic features include loss of speech and purposeful hand use, occurrence of repetitive hand movements, abnormal walking, abnormal breathing, and slowing in the rate of head growth. Current treatment for girls with RTT includes physical and occupational therapy, speech therapy, and medication for seizures. No cure for Rett syndrome is known. In 2007, researchers heralded a major breakthrough by reversing RTT symptoms in mouse models. Rett syndrome is recognized as the “Rosetta Stone” of other neurological disorders, with genetic links to other disorders like autism and schizophrenia.
About International Rett Syndrome Foundation
IRSF is the world’s leading private funder of basic, translational and clinical Rett syndrome research and is the most comprehensive non-profit organization dedicated to providing thorough and accurate information about Rett syndrome, offering informational and emotional family support, and stimulating research aimed at accelerating treatments and a cure for Rett syndrome and related disorders. To learn more about IRSF and Rett syndrome, visit www.rettsyndrome.org or call IRSF at 1-800-818-RETT.