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Study offers treatment hope for Rett syndrome
February 09, 2007The symptoms of a severe autism spectrum disorder affecting at least 10,000 children in the UK could be reversed following research by Scottish scientists.
Rett syndrome, which can leave children wheelchair bound, unable to speak and suffering from breathing difficulties, has until now been considered an untreatable neurological disorder.
But experts have now been able to make symptoms disappear in mice by activating a specific gene.
The research, led by the University of Edinburgh in collaboration with the University of Glasgow, focused on the behaviour of the MECP2 gene that causes the syndrome to develop. They found that when this gene was activated in mice, which had previously been born with it switched off, symptoms such as breathing and mobility difficulties ceased. Over a four week period, the mice often became undistinguishable from healthy counterparts.
The findings give impetus to ways of treating Rett syndrome, which mainly affects girls. Further research may also show that the results could apply to other autism spectrum disorders.
Prof Adrian Bird, Director of the Wellcome Trust Centre for Cell Biology at the University of Edinburgh, led the research and first discovered the MECP2 gene in 1990. He said: "The results we came across were entirely unexpected. Until now it had been thought that Rett syndrome is irrevocable, but our findings show that the damage to nerve cell function is, in fact, reversible. This gives a major boost to the search for treatments or a potential cure."
The research, which is published online by the journal Science in Science Express, was funded by the Wellcome Trust, Rett Syndrome Association UK (with support from Jeans for Genes) and the US-based Rett Syndrome Research Foundation.
Although Rett Syndrome is present at birth, it becomes more evident during the second year. It is believed to be the second most common cause of severe and profound learning disability in girls.
Potential treatment, following on from the research, could range from overriding the mutated version of MECP2 with the activation of a healthy version of the gene. Alternatively, therapy could focus on drug treatment to inhibit the action of proteins expressed as a result of a MECP2 mutation.
Chris James, director of Rett Syndrome Association UK, said: "The Rett Syndrome Association UK is extremely delighted to hear about the results of Professor Bird's research. This is a very significant step on the road for future therapeutic approaches to Rett syndrome and, whilst the work in this area is still at an early stage, it will give hope to those families affected by Rett syndrome. It is particularly pleasing for us that we have been able to help fund this research that could have such a positive benefit for people with Rett syndrome, their families and carers."
University of Edinburgh
The research, led by the University of Edinburgh in collaboration with the University of Glasgow, focused on the behaviour of the MECP2 gene that causes the syndrome to develop. They found that when this gene was activated in mice, which had previously been born with it switched off, symptoms such as breathing and mobility difficulties ceased. Over a four week period, the mice often became undistinguishable from healthy counterparts.
The findings give impetus to ways of treating Rett syndrome, which mainly affects girls. Further research may also show that the results could apply to other autism spectrum disorders.
Prof Adrian Bird, Director of the Wellcome Trust Centre for Cell Biology at the University of Edinburgh, led the research and first discovered the MECP2 gene in 1990. He said: "The results we came across were entirely unexpected. Until now it had been thought that Rett syndrome is irrevocable, but our findings show that the damage to nerve cell function is, in fact, reversible. This gives a major boost to the search for treatments or a potential cure."
The research, which is published online by the journal Science in Science Express, was funded by the Wellcome Trust, Rett Syndrome Association UK (with support from Jeans for Genes) and the US-based Rett Syndrome Research Foundation.
Although Rett Syndrome is present at birth, it becomes more evident during the second year. It is believed to be the second most common cause of severe and profound learning disability in girls.
Potential treatment, following on from the research, could range from overriding the mutated version of MECP2 with the activation of a healthy version of the gene. Alternatively, therapy could focus on drug treatment to inhibit the action of proteins expressed as a result of a MECP2 mutation.
Chris James, director of Rett Syndrome Association UK, said: "The Rett Syndrome Association UK is extremely delighted to hear about the results of Professor Bird's research. This is a very significant step on the road for future therapeutic approaches to Rett syndrome and, whilst the work in this area is still at an early stage, it will give hope to those families affected by Rett syndrome. It is particularly pleasing for us that we have been able to help fund this research that could have such a positive benefit for people with Rett syndrome, their families and carers."
University of Edinburgh
Rett Syndrome Current Events and Rett Syndrome News RSSUnderstanding mental illness through gene-environment interactions
Biological Psychiatry, published by Elsevier, is very pleased to present a special section of its February 1st issue devoted to fundamental new insights into epigenetics, a field of research devoted to understanding how the environment can produce long-lasting or even heritable changes in gene function without altering the DNA sequence.
RSRT Advisor Makes Significant Discovery with Potential for Novel Therapeutic Approaches
A paper published online today in Nature Neuroscience reveals the presence of methyl CpG binding protein 2 (MeCP2) in glia. MeCP2 is a protein associated with a variety of neurological disorders, including Rett Syndrome, the most physically disabling of the autism spectrum disorders.
Autism Consortium members publish in PNAS: Mechanism, treatment for Rett syndrome -- top cause autism girls
The Autism Consortium, an innovative research, clinical and family collaboration dedicated to radically accelerating research and enhancing clinical care for autism spectrum disorders (ASDs), announced today that several Consortium members published a paper with significance for clinical trials in autism in the Proceedings of the National Academy of Sciences.
People with autism make more rational decisions, study shows
People with autism-related disorders are less likely to make irrational decisions, and are less influenced by gut instincts, according to research funded by the Wellcome Trust. The study adds to the growing body of research implicating altered emotional processing in autism.
Researchers find differences in swallowing mechanism of Rett syndrome patients
Researchers at Wake Forest University Baptist Medical Center have found that the reflux and swallowing problems that are common symptoms in patients with Rett syndrome and other neurological impairments, may be caused by a different mechanism than they are in healthy individuals.
Researchers link early stem cell mutation to autism
In a breakthrough scientific study published today in the Proceedings of the National Academy of Sciences, scientists at the Burnham Institute for Medical Research have shown that neural stem cell development may be linked to Autism.
Mental and physical exercise improves genetic mental impairment
Australian scientists have shown that mental and physical exercise can improve coordination and movement problems in Rett syndrome, a devastating genetic brain development disorder that primarily affects females.
Genetic analysis reveals range of Rett syndrome
The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome will enable affected families to receive a more accurate indication of their child's prognosis.
Rett syndrome research reveals high fracture risk
Researchers at Perth's Telethon Institute for Child Health Research have found that girls and young women with Rett syndrome are nearly four times more likely to suffer a fracture.
Study finds first-ever genetic animal model of autism
By introducing a gene mutation in mice, investigators have created what they believe to be the first accurate model of autism not associated with a broader neuropsychiatric syndrome, according to research presented at the American College of Neuropsychopharmacology annual meeting.
More Rett Syndrome Current Events and Rett Syndrome News Articles
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Understanding Rett Syndrome: A Practical Guide for Parents, Teachers, And Therapists by Barbro Lindberg (Author) The brand new edition of this unique book describes the difficulties and challenges of girls and women with Rett Syndrome, and proposes solutions that can help them in everyday life. Written from an educational perspective, and based on extensive practical, real-life experience, it also takes into consideration living conditions as a whole to provide practical and effective help for all those involved in the care of those with Rett Syndrome. Rett Syndrome is a severe neurological disorder with no cure affecting 1 out of every 10,000-15,000 female births worldwide. It is now known to result from a chromosomal defect that leads to problems such as mental retardation, serious motor handicaps, epileptic seizures, and difficulties with communication. This syndrome is found only in girls, and... |
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Keeping Katherine: A Mother's Journey to Acceptance by Susan Zimmermann (Author) Katherine was a beautiful, perfect baby for the first year of her life. Then, without warning, she changed forever. She started crossing her eyes. She cried at night for hours at a time and could not be soothed. She stopped saying words, stopped crawling, and began what would become a lifelong habit of wringing her hands. Hospital visits and consultations with doctors offered no answers to the mystery. Soon Katherine slipped away to a place her mother and father could never reach. In Keeping Katherine, Susan Zimmermann tells the story of her life with her daughter Katherine, who has Rett syndrome, a devastating neurological disorder. Writing with honesty and candor, Zimmermann chronicles her personal journey to accept the changed dynamic of her family; the strain of caring for a... |
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Rett Syndrome Awareness Ribbon Mouse Pad by MyHeritageWear.com The Rett Syndrome Ribbon proudly displayed on a mouse pad. There is no better way to achieve awareness for the meaning of the Rett Syndrome Ribbon than to display it on your mouse pad for everyone to see. The mouse pad measures at 9.25 x 7.75, it is machine washable, and the colors will not fade or run. Start gaining awareness today by presenting your Rett Syndrome Ribbon mouse pad at work or at home. It is certain to keep your mouse rolling in style all while gaining support and awareness! |
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Your Daughter Has Been Diagnosed With Rett Syndrome by Kim Isaac Greenblatt (Author) This book is for parents who just received a diagnosis of Rett Syndrome, their relatives, concerned friends and interested medical professionals. The book explains first hand reactions to the initial diagnosis as well as some coping mechanisms and suggestions for life strategies. Part of all sales go to Rett Syndrome research. Kim Isaac Greenblatt currently lives in West Hills, California. |
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Pathways to Learning in Rett Syndrome by Lewis (Author) Offering accessible advice on the special educational needs of girls with Rett syndrome, this volume aims to assist teachers in developing a working knowledge of the syndrome and suggests particular strategies in planning a curriculum which may help overcome the specific difficulties within the diagnosis. For parents, the book provides a picture of the special school system in this country and the educational implications for their daughters. It should also be of interest to those working with pupils with a more general type of profound learning disability. |
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The Rett Syndrome handbook: In words you can understand from those who understand by Kathy Hunter (Author) The Purpose of this publication is to circulate the most up to date information on Rett Syndrome. In words you can understand from those who understand | |
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Rett Syndrome Medical Guide by Qontro Medical Guides (Author) The Rett Syndrome Medical Guide is a publication which has been designed to better help readers understand Rett Syndrome. This Qontro Medical Guide has been designed with the reader in mind, and is a useful information source for readers at all levels looking to learn more about Rett Syndrome. The Rett Syndrome Medical Guide is highly recommended for those interested in understanding and learning more about Rett Syndrome. |
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Rett Syndrome - Clinical and Biological Aspects: Studies on 130 Swedish Females (Clinics in Developmental Medicine (Mac Keith Press)) by Bengt Hagberg (Editor) This volume provides a detailed survey of the clinical development of Rett syndrome from its earliest manifestations in childhood to adulthood. The volume surveys the developmental profile of the disease, its characteristic cluster of symptoms and signs, and categorizes the four main clinical stages in the development of motor disability. Particular emphasis is given to Rett syndrome variants and other clinical conditions which manifest themselves in a similar way to Rett syndrome. The development of scoliosis with age and disease stage is analysed. The neurophysiologic, neuropathologic and neurochemical characteristics are also examined. In addition, the volume looks at the molecular genetics of the syndrome, drug treatment and possible future developments. |
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The Rett Syndrome Handbook by Kathy Hunter (Author) | |
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The Official Parent's Sourcebook on Rett Syndrome: A Revised and Updated Directory for the Internet Age by Icon Health Publications (Author) This book has been created for parents who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells parents where and how to look for information covering virtually all topics related to rett syndrome (also Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use), from the essentials to the most advanced areas of research. The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information available to date on rett syndrome. Given parents' increasing... |
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