FAST Funds Translational Research Model to Assess Therapeutics for Angelman Syndrome
FAST Funds Translational Research Model to Assess Therapeutics for Angelman Syndrome

FAST, the Foundation for Angelman Syndrome Therapeutics, is pleased to unveil relevant behavioral assessments to measure potential change over time for investigative therapeutics for Angelman syndrome (AS). This FAST-funded research found profound differences in the Ube3a deletion rat model when compared to rats without AS.

The research, led by MIND Institute Department of Psychiatry and Behavioral Sciences at the University of California Davis School of Medicine, found excessive laughter-like vocalizations evidence of a smaller brain size on MRI, gait disturbances, and some other unique translational outcomes in the Ube3a deletion rat model of AS. In humans, Angelman syndrome is commonly characterized by developmental delay, motor and balance deficits, impaired communication, and a happy, excitable demeanor with frequent laughter. In addition, many individuals with AS have a smaller head circumference that becomes more pronounced with age. This research investigated pre-clinical outcome measures in the AS rat model that could translated to some of the symptoms seen in humans with AS, especially relative to communication and laughter, gait and MRI.  

The research unveiled some of these incredibly unique correlations between the rat model and individuals with Angelman syndrome, which are not as profound in the AS mouse model. Researchers recorded excessive laughter-like 50-kHz ultrasonic emissions in the rat model of Angelman syndrome. The ultrasonic emissions suggest an excitable, playful attitude and elevated positive affect, similar to the behavior of individuals with Angelman syndrome. In addition, the rat model demonstrated unusual social interactions with a different partner, distinctive gait abnormalities, impaired cognitive testing, an underlying learning and memory deficit, and reductions in brain volume based on MRI that got more pronounced over time. These unique, robust characteristics provide new advantages compared to currently available mouse models to look at drug testing and potential reversibility. The research findings will be highly valuable as outcome measures in the evaluation of effective therapeutics for Angelman syndrome.

The rat model has become a robust and translatable model of Angelman syndrome.

FAST is fully committed to a single mission: finding meaningful and transformative treatments for all individuals living with Angelman syndrome, regardless of their age or genotype. FAST continues to fund translational research to unveil relevant translational research outcomes to measure therapies for Angelman syndrome in numerous animal and cell models. To learn more about FAST, please visit cureangelman.org. Consider contributing to FAST by making a financial gift, spreading the word with friends and family members, and fundraising to help FAST cross the finish line.

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