RareBoost Seminar by Prof. Stephen C. Pak, PhD: “Advancing Rare Disease Diagnosis Using Model Organisms”
We are pleased to invite you to the next RareBoost Seminar, presented by Prof. Stephen C. Pak, PhD (Washington University), on Wednesday, June 10, 2026 at 11:00 am at IBG Aziz Sancar Auditorium.
To join online, please register at the link: https://luma.com/4xmog8v5
Dr. Pak’s talk is titled: “Advancing Rare Disease Diagnosis Using Model Organisms”
Dr. Pak is a Professor of Pediatrics and Co-Director of the Undiagnosed Diseases Network (UDN), C. elegans Model Organism Screening Center. He earned his B.Sc. from the University of Sydney and his Ph.D. from the University of New South Wales (Australia). Prior to his appointment at Washington University, he held faculty positions at the Harvard Medical School and the University of Pittsburgh.
We look forward to your participation.
Seminar abstract
Despite major advances in clinical genetics and bioinformatics, many patients with suspected rare diseases remain without a molecular diagnosis. Only about 25-30% of patients receive a molecular diagnosis through genetic sequencing. In many cases, the lack of a diagnosis stems from the identification of variants in genes that have not been previously associated with disease (i.e., genes of uncertain clinical significance (GUS)) or due to variants of uncertain clinical significance (VUS) in known disease genes. Functional studies using model organisms are essential for understanding the genetic, molecular, cellular and biological consequences of these variants and play a critical role in advancing therapeutic development. The model organism C. elegans has contributed significantly to our understanding of gene function, developmental biology, and disease mechanisms because of its powerful genetic toolkit and ease of study. Increasingly, C. elegans is also being used to support molecular diagnosis in rare disease research. This presentation will highlight ongoing efforts to investigate rare diseases, with a particular focus new disease gene discovery, and will discuss how model organisms can help define disease mechanisms and accelerate therapeutic discovery.