Dr. Edwin Weeber has displayed great dedication and care to Angelman Syndrome families through his continuing research into this neurological disorder. Initial research conducted in 2007 by Dr. Edwin Weeber and Dr. Ype Elgersma received the prestigious distinction of being selected as the "Scientific Highlight of the Year" by the Federation of European Neuroscience Societies.
Through their research with the AS mouse models it was discovered that one of the biological abnormalities in the AS mouse was a reduction in CaMKII, an enzyme which is essential for learning and memory. Somewhat explaining the neurological deficits displayed within AS individuals. Dr. Weeber et al, was able to to reverse the effects of AS in a mouse model, by breeding an AS mouse and a mouse with a mutation that caused it to retain their CaMKII activity. This resulted in producing mice which had been rescued from the effects of AS, namely seizure activity, intellectual impairment and motor co-ordination problems. The conclusion from these experiments was that the deletion or mutation of the maternal part of the UBE3A gene caused a reduction in this important enzyme, which results in Angelman Syndrome.
There are important ramifications for humans with Angelman Syndrome from this research. The conclusion that this particular enzyme is not produced until after the mice are born, which also may be the case for humans, means that AS may not be developmental in nature, but rather biochemical. This discovery then opens the door for future ongoing research into a therapeutic intervention to assist individuals with Angelman Syndrome.
Overwhelmed by the outpouring of support from the Angelman Syndrome community following his research, Dr Weeber refocused the vast majority of his work into Angelman Syndrome and now serves as the Director of the Scientific Advisory Board for the Foundation for Angelman Syndrome Therapeutics (FAST).
In addition to the research undertaken by his laboratory, Dr Weeber spends considerable time collaborating with other researchers. Dr. Weeber works to share his knowledge and discoveries with fellow researchers working on similar tracts, and furthermore promoting AS in an effort to increase the momentum in what might turn out to be one of the most significant scientific discoveries of this century. Dr Weeber's dedication to the disorder is such that he is often in contact with parents worldwide, giving them a better understanding of Angelman Syndrome and his research into a theraputic intervention. In July 2009, at the urging of parents, Dr Weeber even made a visit to Australia to meet with parents, medical practitioners’ and researchers.
Dr. Weeber and his collaborators continue their search to find a therapeutic in order to alleviate the effects of Angelman Syndrome, giving families, and friends of individuals with the rare disorder, reason to hope for a more positive future.
Portrait
University of South Florida
Nominated by:
Queensland Angelman Association, Australia
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