FAST’s Strategic Roadmap to a Cure is an aggressive research agenda focused around the Four Pillars below.
Replacing the missing or non-functional UBE3A gene in neurons of individuals living with AS.
Activating the silent paternal copy of the UBE3A gene in neurons.
Focus on different molecular pathways and effector proteins impacted by the missing UBE3A protein. These drugs generally aim to improve the communication of neurons at the synapse (junction between the two neurons).
Often overlooked but wildly important! These are the actions that allow all of the work from Pillars 1 through 3 to reach individuals living with Angelman syndrome to ensure transformative therapeutics are advanced.
The Emergency Care Consortium will provide a global emergency and urgent care hotline. The hotline will be free of charge, available 24-hours a day and seven days a week, and will enable provider-to-provider consultations to manage urgent issues with the appropriate standards directly related to Angelman syndrome, especially seizures. More than 90% of individuals with Angelman syndrome experience seizures which are often difficult to control with traditional seizure medications. The Emergency Care Consortium will be available for provider-to-provider use in July 2021, with clinical experts that truly understand the nuances unique to Angelman syndrome.
Dr. Keung and his team at North Carolina State University will provide the Angelman syndrome research community a set of cell lines that can be used to efficiently model the biology of ICD and UPD, as well as organoids that model the mosaic genotype. This will aim to help understand any potential impact of gene overexpression in these different genotypes.
This grant focuses on the development of a microRNA approach as a potential therapeutic for the treatment of Angelman syndrome. In collaboration with the Gene Therapy Program at the University of Pennsylvania, the latest research plan will build on the milestones already achieved with CRISPR-Cas9/sgRNA interference of the UBE3A-antisense transcript (UBE3A-AS) to develop a novel strategy to suppress UBE3A-AS extension utilizing microRNAs as a potential one-and-done treatment option.