The International Rett Syndrome Association (IRSA) hails groundbreaking research, calls for continued federal support
For a related press release from the University of Toronto, click here.
Clinton, MD (March 22, 2004) - Researchers at Toronto's Hospital for Sick Children and their collaborators have identified a new form of the protein MECP2 which regulates the complex expression of Rett syndrome and other neurological disorders including autism, childhood schizophrenia and some forms of mental retardation. This discovery is being incorporated into a new molecular test that will aid not only the diagnosis of Rett syndrome, but also for other developmental disabilities. This research is reported in the April issue of the journal Nature Genetics (available online March 21, 2004).
"The previously identified gene MECP2 was only found in approximately 80% of Rett syndrome patients," said Dr. Berge Minassian, the study's principal investigator, a neurologist and scientist at Toronto's Hospital for Sick Children and an Assistant Professor in the Department of Paediatrics at the University of Toronto. "Our discovery suggests that a defective alternate form of the MECP2 gene causes Rett syndrome."
While there are 3,000 known cases of Rett Syndrome in the United States which predominantly strikes only girls, the disorder is genetically linked to more widespread neurological disorders such as autism and schizophrenia. Rett symptoms begin to manifest between the first six to eighteen months of life and eventually incapacitates the afflicted children so that they cannot survive without constant care. The disorder causes seizures, respiratory and gastrointestinal abnormalities, and a variety of muscular and motor impairments.
"The tragedy of this disorder is that it strikes girls who are too young to comprehend what is happening, and leaves them trapped inside their own bodies," said actress Julia Roberts, who became close to a little girl stricken with Rett and has testified before Congress to encourage federal support for research on Rett syndrome. "The additional tragedy would be for us to ignore the recent discoveries about this disease and the implication for disorders that afflict hundreds of thousands of people. This research must continue now that we are on the verge of major discoveries."
"We have a lot of basic research, clinical research and translational science that we must support on the way to finding treatments and a cure for Rett syndrome," said Carolyn Schanen, MD, PhD, Head of Human Genetics Research at the Nemours Alfred I. duPont Hospital for Children in Wilmington, Delaware. "To develop intelligent treatment strategies for these children, we need to better understand the biology of this protein in the development of the nervous system. Recent advances provide us the tools to answer questions of cause and effect in the development of this disorder. Promising treatments are on the horizon - we just have to secure the funding and do the science."
"I will continue to work hard to increase federal funding for Rett syndrome research at the NIH. This new finding should help advance a cure for this unique and puzzling neurological disorder that affects one in every 10,000 girls," said Congressman Steny Hoyer (D- MD), who has been a leader in Congress on Rett syndrome for over a decade.
Kathy Hunter, Founder and President of the International Rett Syndrome Association, applauded the new research and emphasized the critical importance of supporting more research immediately. "This is truly an exciting time for Rett syndrome research and is a major leap forward in our understanding of how MECP2 works in the nervous system. This critical discovery may be put into immediate practice. This finding will gladden the hearts of the thousands of families that must meet the challenges of Rett syndrome everyday. It brings us all hope that we are closer to finding answers that can ease our struggles."
"For pediatric neurologists, the best place to practice medicine is in the lab because that is where we can actually do something that will one day be useful in treating our patients," said Dr. Minassian. "Meanwhile, we see Rett girls in clinics and hold their parents' hands while they hold their tears."
Hunter also acknowledged the enablers of this research, including funders and collaborators such as Dr. John Vincent, co-principal investigator, at the Centre for Addiction in Mental Health in Toronto, Dr. Carolyn Schanen of Nemours Alfred I duPont Hospital for Children, Dr. Patrick MacLeod at the University of British Columbia, and Dr. Michael Friez at the Greenwood Genetic Center in South Carolina.
Source: Eurekalert & othersLast reviewed: By John M. Grohol, Psy.D. on 21 Feb 2009
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