HEARTS Calendar
The Office of the Vice Dean, Research and Health Science Education (RHSE) is pleased to provide the Health Education and Research Training Series (HEARTS) calendar.
The purpose of this calendar is to make it easier than ever before, to find interesting and relevant seminars, conferences and discussions organized by the Temerty Faculty of Medicine, its associated hospitals, research institutes and other units.
Learn more about HEARTS, including how to submit an event to the calendar, or simply jump in and start searching for fantastic community events!
Short tandem repeat expansions are the cause of more than 60 rare neurological disorders. Repetitive DNAs, which include tandem repeats and interspersed repeats, accounts for more than 50% of the human genome. However, repetitive DNAs are often overlooked in genetic studies due to the difficulty in detecting them using conventional sequencing methods. In this seminar, I am going to discuss a pathology-to-gene identification approach that we recently developed to identify disease-associated repeat expansion variants. We recently showed that repeat expansion related pathological signatures were detected in autopsy brain tissue from patients with Alzheimer’s disease (AD). Using a CRISPR/Cas-based repeat pulldown assay, we identified novel repeat expansion variants that cause a subset of repeat expansion pathologies in AD brains and are associated with increased AD risk. Our data suggest additional yet-to-identified repeat expansion variants that could contribute to AD and other neurodegenerative disorders with unknown genetic etiologies.