Using real patient data from the Undiagnosed Diseases Network (UDN), faculty, staff, and students in the Department of Biology have built a rare-disease research pipeline that connects education directly to discovery.
In the study, Detectives of the Undiagnosed Diseases Network (UDN): a novel undergraduate research-based bioinformatics assignment, students enrolled in BIO273W Genetics Laboratory worked with authentic genomic data from unsolved patient cases to strengthen their understanding of core biological concepts, including gene function, variant interpretation, and disease mechanisms. This study, which was recently published in the Journal of College Science Teaching, was co-authored by Biology faculty Aime Levesque, Cindy Thomas-Charles, Andrew Koob, as well as Biology lab supervisors Sean Congdon and Jon Larsen.
Building on this foundation, a second study, Investigating and correcting a rare pathogenic mutation in GDF11, extended student involvement into real-world experimentation, where a UDN patient’s GDF11 mutation was modeled and corrected using CRISPR Prime Editing. This study, which was recently published in the journal Human Genetics and Genomics Advances, was co-authored by Biology faculty Cindy-Thomas Charles, Aime Levesque, Andrew Koob, and Adam Silver, as well as Biology lab supervisor Sean Congdon and undergraduate students John Bennett, Rhoddean Opinya, Amara Agosto, Olivia Dossias, and Christopher Kokko.
Together, these studies illustrate how patient-derived data can both train future scientists and advance experimental strategies aimed at closing the gap between diagnosis and therapeutic possibility for rare-disease patients.