• Country: 臺灣TAIWAN
  • Official Title: 主治醫師
  • Department: 國立台灣大學附設醫院眼科部

Speech Title

Stepping Forward to Precision Medicine for Inherited Retinal Degeneration with Polyomics Technologies
利用多體技術邁向遺傳性視網膜病變的精準醫學

Inherited retinal degeneration (IRD) refers to a group of monogenic disorders that lead to the progressive dysfunction of rod and cone photoreceptors, ultimately causing blindness. This condition affects over 2 million individuals globally. To date, nearly 300 genes have been linked to IRD, and molecular diagnosis plays a crucial role in clinical management, including determining eligibility for participation in gene therapy trials.

With the continuous advancements in next-generation sequencing (NGS) technologies, various genetic testing methods—such as targeted panel sequencing, whole-exome sequencing (WES), and whole-genome sequencing (WGS)—are now available for IRD diagnosis. In our initial experience with the Taiwan Inherited Retinal Degeneration Project (TIP), we enrolled a total of 312 families and applied a targeted panel covering 212 IRD-related genes, achieving a diagnostic rate of 57%. In recent years, we have integrated multiple analytical technologies to establish a comprehensive diagnostic pipeline. This approach, designed to be both practical and efficient as a first-line diagnostic platform for all IRD patients, has led to a diagnostic rate of nearly 70%. With gene therapy for IRD becoming a reality, selecting appropriate candidates for gene therapy microsurgery is a critical clinical challenge. In this brief talk, I will discuss the principles and current evidence regarding the prediction of therapeutic windows for individual patients, considering genetic, phenotypic, and surgical factors. Additionally, by integrating metabolomics, which examines the full spectrum of biochemical products, we have shown that common IRD conditions—including retinitis pigmentosa (RP), cone-rod dystrophy (CRD), Stargardt disease (STGD), and Bietti’s crystalline dystrophy (BCD)—can be distinguished based on their unique metabolite heatmaps.