Ype Elgersma, PhD Erasmus University Medical Center, Rotterdam, Netherlands An inducible mouse model for Angelman Syndrome: Follow up
$92,144 – 1-year
With previous support from the ASF, Dr. Elgersma engineered a UBE3A- inducible mouse in which the UBE3A gene (responsible for causing AS) is non-functional when the mouse is born. However, by a medication injection at any desired age, this inducible mouse model could now restore UBE3A gene function in every cell, including the brain. Dr. Elgersma, under this grant funding will now study how to restore gene function at various ages and will assess the phenotype of these genetically cured mice using various behavioral and electrophysiological assays. This research work will address the issue as to what extent the UBE3A gene is involved in brain development, and to what extent one can reverse the symptoms. Although not offering a specific therapeutic intervention for patients, this work may provide pivotal proof of principle that a putative mechanism-based treatment is still effective after the onset of the neurological symptoms. This knowledge is essential for future trials, aimed at alleviating the symptoms of AS. In addition, this project will give us valuable information in understanding the role of UBE3A in brain development and/or in mature brain function.