RareBoost Semineri: Prof. Stephen C. Pak, PhD “Advancing Rare Disease Diagnosis Using Model Organisms”

Seminer özeti (ingilizce)

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.

Konuşmacı hakkında

Dr. Pak, Washington Üniversitesi’nde Pediatri Profesörü ve Tanısız Hastalıklar Ağı (UDN), C. elegans Model Organizma Tarama Merkezi Eş Direktörüdür. Lisans eğitimini Avustralya’da Sydney Üniversitesi’nde, doktora eğitimini ise New South Wales Üniversitesi’nde tamamlamıştır. Washington Üniversitesi’ndeki görevinden önce Harvard Tıp Fakültesi ve Pittsburgh Üniversitesi’nde öğretim üyesi olarak görev yapmıştır.