Assistant Professor
Department of Neurology

Project title: Treating Ataxia Telangiectasia with Small Molecule Readthrough Compounds

William (Bill) Boyle, PhD – UCLA
Richard Gatti, MD – UCLA

Multidisciplinary Expertise:
ataxia, neuroscience, drug development

Project Description:
Ataxia telangiectasia (AT) is a rare (~1 in every 100,000), but catastrophic and fatal inherited disease that is caused by a mutation in the ATM gene (AT mutated). No cure or effective treatments exist, therapy consists largely of palliation, and unfortunately, children born with this disease die by the age of ~25 yrs. Up to one third of disease-causing mutations in AT result from a Premature Termination Codon (PTC) in the mRNA encoded by the gene. We seek to demonstrate and develop a new therapeutic directed at overcoming PTCs to treat these AT patients. Our next steps are to screen our current candidate Small Molecule ReadThrough (SMRT) compounds and perform in vivo efficacy testing in a new mouse model of AT that expresses a disease causing PTC.