Molecular Analysis of the Angelman Syndrome: The role of UBE3A deletions

Soma Das – University of Chicago

About 90% of individuals believed to have AS will have abnormal genetic tests that identify one of four mechanisms that can disrupt UBE3A function. There are however about 10% of individuals with apparent AS who have negative genetic testing and the question is often raised as to whether other types of undetected genetic mechanisms might be present. ASF supported this study designed to screen for very small deletion regions located within UBE3A (that might have escaped detection previously). The results of the studies showed that it is rare for such small deletions to occur and/or to be missed by existing genetic testing. This project helped clarify which genetic mechanisms do and do not account for a significant number of individuals with AS.

Role of the UBE3A Gene Product in Brain Protein Metabolism

Joseph Wagstaff – University of Virginia

Dr. Wagstaff was one of the crucial investigators who discovered that UBE3A disruption was the cause of AS. With funds from this and other projects he was able to develop a mouse model for AS and this important development provided a mechanism to learn more about associated proteins in the brain and how proteins change in the brain when UBE3A is disrupted.

Efficacy of Enhanced Natural Gestures for Young Children with Angelman Syndrome

Stephen Calculator – University of New Hampshire

Funds for this project built on earlier work by Dr. Calculator (above) and provided additional behavioral treatment strategies to improve communication through nonverbal methodologies.

Folate Clinical Study San Diego Grant

Lynne Bird – University of California San Diego

ASF has been aggressive in funding a number of investigators, as well as multiple centers, involved in providing dietary supplements aimed at augmenting the biological availability of methyl groups (see Beaudet study, in 2000). This project helped facilitate clinical trials for families living in the California area and thereby supported the broader U.S. clinical trials conducted in Texas, Boston and other locations.