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 […]
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 […]
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 […]
Casa Angelman developed a National Genetic Campaign to provide testing for children across Argentina and with assistance from FAST, will be able to bridge that gap for many Argentinian families.
Generation and Characterization of a New Angelman syndrome Mouse Model that Recapitulates the Large Deletion of Human 15q11-q13 and a Control Line that Carries a Deletion of all Genes in 15q11-q13 but UBE3A | $886,894
Dr. Jiang will create a novel ~6MB full deletion Angelman syndrome mouse model. As we near a therapeutic aimed at getting a working copy of UBE3A into humans living with Angelman syndrome (AS), this work will contribute to the understanding of the other genes impacted in the largest population of individuals living with AS, those […]
Dr. Duis used the ActiMyo device(s) in a clinical study to evaluate the tolerability and gait parameters in Angelman syndrome. This device was shown to be well tolerated and associated with various unique gait parameters when compared to neurotypical age-matched controls.
Although there are no currently drug approved therapies that address the underlying causes of Angelman syndrome, new molecular therapies that are targeted to specific proteins, RNA, or DNA hold tremendous promise for the future. Past work demonstrated artificial transcription factors (ATFs) that could reactivate paternal. Ube3a expression by silencing Ube3a-AS transcription in mouse brain and […]
This is a unique program that is aiming to create a core facility as a resource for developing and evaluating various treatments for Angelman syndrome. The intent is to create a stable infrastructure for the rapid testing of potential therapeutics in various models of Angelman syndrome (AS). The expectation is that academic investigators, and industry, […]
This work will develop a rapid gene insertion platform for human pluripotent stem cell and organoid systems that will unlock the ability to rescue the expression of UBE3A and its ten neighboring protein-coding genes lost in Class 1 deletions. These deleted genes contribute to the clinical phenotypes of AS individuals, and developing an experimental platform […]
The patient iPSC derived neurons, and brain organoids (aka mini-brains), become essential tools or systems to test various approaches in human therapeutics, especially for sequence specific neurogenetic disorders (e.g. ASO and CRISPR/Cas9 based therapies, as well as other potential molecular treatments for AS). The major goal of this proposal is to create a high-quality biorepository […]