$200,000 2 years Individuals with a deletion of chromosome 15q11-q13 suffer from Angelman syndrome (AS), a neurogenetic developmental disorder characterized by intellectual disability, motor ataxia, absent speech, and seizures. The specific gene that is responsible for AS encodes the ubiquitin […]
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$150,000 UBE3A is a protein that labels other proteins for disposal. It is thought that accumulation of proteins that would normally be “trashed” causes the deficits in AS. Using stem cells generated from Angelman syndrome patients or stem cells genetically […]
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Approximately 90% of males diagnosed with Christianson syndrome (CS) meet research criteria for a clinical diagnosis of Angelman syndrome (AS). CS is caused by loss-of-function (LoF) mutations in the X-linked, endosomal Na+/H+ exchanger 6 (NHE6) and was originally termed “X-linked […]
Read more $120,000 – 2-years The discovery of genomic reprogramming of human skin cells into induced pluripotent stem cells (iPSCs) provides a novel way to model human diseases with complex genetics. By reprogramming skin cells obtained from patient samples, cell lines can […]
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$200,000 (2 years) This research study builds upon previous ASF-funded research conducted by Dr. Art Beaudet at Baylor College of Medicine and will determine whether a drug that increases UBE3A expression can restore normal function to human AS brain cells. […]
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Dr. Kiyoshi Egawa from the Hokkaido University Graduate School of Medicine in Japan is conducting further research on Gaboxadol’s potential therapeutic affects in other parts of the AS brain, helping guide current and future clinical trials and move us closer […]
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