Emergency Care Consortium | $383,163
Isogenically Controlled Human Cell Lines Targeting Aberrant Imprinting Genotypes | $173,139
Development of microRNA AAV Vectors to Improve Angelman Syndrome | $573,992
Genetic Diagnosis Campaign in Argentina | $18,000
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 […]
Translational Analysis of Gait as a Primary Outcome Measure in Angelman Syndrome | $282,870
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.
Rodent Studies of Non-Snord 116 Paternal Ube3a Activation | $75,000
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 […]
FAST Infrastructure Grant | $1,224,303
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, […]
A Human Platform to Efficiently Study Class 1 Deleted Genes in Angelman syndrome | $299,321
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 […]
A Biorepository of Angelman syndrome IPSC Lines and Brain Organoids | $1,068,455
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 […]