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Angelman Research Update – Professor David Segal 2014
Professor David Segal heads a research laboratory at The Genome Center of the University of California Davis. A main focus of the Segal Lab is designing proteins that can bind to DNA and “turn on” or “turn off” the expression of specific genes. Such DNA binding proteins have the potential to be used in applications such as targeted gene expression therapy for conditions with a known genetic basis. For example this approach might allow people with Angelman Syndrome to make up for the loss or inactivation of the UBE3A gene on the chromosome inherited from the mother, by “turning on” or expressing the UBE3A gene inherited from the father. Professor Segal…
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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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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…