Funding Research for Treatments and a Cure

Pilot Study to Understand Skilled Motor Impairments in Angelman Syndrome
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Adam Hantman Adam Hantman, PhD University of North Carolina, Chapel Hill

Pilot Study to Understand Skilled Motor Impairments in Angelman Syndrome


Motor deficits are common and debilitating, but not well-understood, symptoms of Angelman syndrome. AS results from the loss of the UBE3A gene. The development and study of animal models of AS that lack the same gene has advanced our understanding of brain abnormalities associated with AS and has led to exciting progress in genetic therapies. However, relating motor deficits to specific brain abnormalities has remained a challenge. Understanding the specific brain mechanisms that lead to motor deficits is likely to provide insight into related symptoms, such as speech impairments or learning disability.

Motivated by recent advances in the ability to precisely track the movements of animals while measuring neural activity across multiple brain areas, this project is aimed at developing a detailed understanding of how motor deficits are related to brain function in AS. By studying animal models of AS that lack the UBE3A gene, we will, first, associate motor impairments with brain abnormalities and then, second, reintroduce the UBE3A gene into the brain at different developmental timepoints to establish the ability to recover motor deficits and related brain mechanisms.

This project aims to discover the neural mechanisms underlying motor deficits in AS, which has the potential to generalize and shed light on cognitive and speech symptoms. This understanding will inform ongoing therapy approaches and may motivate new approaches for individuals with AS.