AS Research
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Prevalence of Angelman Syndrome
How Common is Angelman Syndrome? The prevalence of Angelman syndrome (AS) can be estimated by using multiple sources of information such as medical practitioner records, hospital registries, laboratory test records and information from schools, public health facilities and developmental institutions. One of the earliest studies came from Denmark where children with the diagnosis of AS, determined from medical clinic records, were compared to an 8-year period having 45,000 births and showed a minimum AS prevalence of about 1/10,000 (Petersen et al., 1995). Another study of school age children, ages 6-13 years, living in Sweden showed an AS prevalence of about 1/12,000 (Steffenburg et al., 1996). Several…
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90% Improvement in Seizure Reduction
My interview with Dr. Ron Thibert from my blog in December 2012. I recently had the opportunity to catch up with the Angelman community’s very own trusted neurologist Dr. Ron Thibert! He is the Co-Director of the Angelman Syndrome Clinic at MassGeneral Hospital for Children in Boston. His specialties include Neurology and Epilepsy Service. Many families in our community travel from many other states just to see him. He really understands how to provide the best treatment for our kids! Angelman Syndrome is so rare and when it comes to their brain and seizures, our kids need the best! They need someone who has experience to draw from when deciding the…
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Mosaicism in Angelman Syndrome
By Dr. Charles A. Williams, Professor of Pediatrics and Genetics, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, Gainesville, FL In the last edition, I reviewed the four genetic mechanisms that can disrupt the Angelman syndrome (AS) gene: chromosome deletion, imprinting defect, mutation in UBE3A and paternal uniparental disomy. When an individual with AS has one of these defects, it is typically present in every cell of the body, since the defect existed at the time of conception when the sperm and egg fused to form the first cell of the embryo. All of the subsequent cells are thus derived from this original cell. It is possible…
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Clinical Trial of LGIT Proves Effective for Reducing Seizures by 80-90%
Clinical Trial of Low Glycemic Index Treatment proves effective for reducing seizures by 80 – 90% Dr. Thibert and Dr. Elizabeth Thiele (both are members of the Scientific Advisory board for the Angelman Syndrome Foundation) were able to launch a clinical study to determine the efficacy of the Low Glycemic Index Treatment in reducing seizures in individuals with Angelman Syndrome. In July 2012 the results were in and published in Epilepsia and in the Angelman Syndrome Foundation newsletter. Epilepsia link: PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22779920 Read my interview with Dr. Thibert on my blog www.MeetTheFamiliesofAS.blogspot.com
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Making Sense of it all – By Ed Weeber, PhD.
Making Sense of it all By Edwin J. Weeber, Ph.D., Professor, Department of Molecular Pharmacology and Physiology, Chief Scientific Officer, USF Health Byrd Alzheimer’s Institute Director, Neurobiology of Learning and Memory Laboratory, University of South Florida Health’s Morsani College of MedicineMany of you reading this magazine are more immersed in medical science and scientific discovery then most of the population. With a focused eye on the latest work being performed in the field of Angelman syndrome, there are reports, papers, talks and posts that seem to be in constant conflict. It’s important for you all to know that this is actually a good thing! Rarely are there “eureka” (I’ve found it) moments in…
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Understanding Genetic Classes of Angelman Syndrome – By Dr. Charles Williams
Understanding Genetic Classes of Angelman Syndrome Dr. Charles Williams, Professor of Pediatrics and Genetics, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida Conducting blood testing to diagnose Angelman syndrome (AS) can be a complicated matter. Here I summarize the different genetic causes of AS and provide general guidelines about how to use genetic tests to confirm the diagnosis of AS. First, let us look at the genetic mechanisms that cause AS: A chromosome 15 pair is illustrated for each class depicted but the other chromosomes are not shown. The P indicates the maternally-derived chromosome and the M indicates the maternally-derived one. The shaded chromosomes have a…
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AS Research – by Ed Weeber, PhD.
Interested in what research has been published about AS? Dr. Ed Weeber will tell us how we can search for information and some of the latest research happening around the globe. How can you get published scientific articles concerning Angelman syndrome research? By accessing the free data base called PubMed (www.pubmed.gov). This valuable resource is developed and maintained by the National Center for Biotechnology Information (NCBI) at the National Library of Medicine (NLM) and contains more than 20 million references to scientific articles. The search function allows single or multiple terms to narrow the number of “hits”. In addition, you can search for authors in order to find all of…