For decades, mouse models have been essential to Angelman syndrome research. They have helped scientists uncover how the condition affects the brain and body, guided early therapeutic development, and remain a critical part of ongoing discovery.
Now, for the first time, researchers have successfully modeled Angelman syndrome in a large animal species with brain development that more closely resembles that of humans.
In a major scientific milestone fully funded by the Foundation for Angelman Syndrome Therapeutics (FAST), a research team led by Dr. Scott Dindot at Texas A&M University has created the first-ever genetically engineered pig model of Angelman syndrome. Using CRISPR gene-editing technology, Dr. Dindot and his team targeted the UBE3A gene to develop a pig model that demonstrates several key traits seen in humans living with Angelman syndrome, such as differences in movement, coordination, and brain activity. This development gives researchers a promising new way to study potential therapies and better understand how Angelman syndrome affects the brain and body using a model that more closely reflects human biology.
Why Use a Pig Model in Angelman Syndrome Research?
Pigs have brain structures and developmental patterns that are more similar to humans than those of mice. Their brains are larger and more complex, with features that closely resemble the human brain. Pigs also share important similarities with humans in how their bodies function, making them a strong model for studying how treatments might affect the brain and other systems throughout the body beyond what rodent models can show.
While this large animal model does not replace existing mouse models, it provides researchers with a new platform that could open the door to fresh insights and approaches for studying Angelman syndrome.
FAST’s Role in Driving Scientific Progress
FAST recognized early that large animal models had the potential to transform the research landscape and began funding this work in 2015, supporting it through its completion in October 2023.
That investment led to a first-of-its-kind project, and the findings were recently published in the peer-reviewed journal Proceedings of the National Academy of Sciences, underscoring the model’s scientific rigor and providing a potential relevance for future therapeutic development.
By funding high-impact, high-risk projects like this, FAST continues to invest in bold, early-stage science that pushes the field forward. While the model has not yet been widely adopted, it establishes an important foundation for future research and offers scientists a potential platform for preclinical testing and a way to better understand the neurological and physical effects of Angelman syndrome. Over time, insights from this work could inform how therapies are developed and delivered in the future.
Be Part of the Next Discovery That Can Shape the Future
FAST will continue to fund bold, innovative research that often falls outside traditional funding pathways but is essential to driving progress for the Angelman syndrome community.
Your support fuels the breakthroughs that families are waiting for and ensures scientists have the resources they need to push boundaries and explore bold new ideas.