紹介文：

Serene, LIN, Siying 先生は遺伝性網膜変性症を専門とする眼科医であり、英国 Moorfield Eye Hospital にて、世界最大級の遺伝性眼疾患コホート研究を行ってこられたクリニシャン・サイエンティストです。現在は Manchester 大学に移られ、遺伝性眼疾患コホート研究を継続されています。本日は、英国の大規模な遺伝性網膜疾患患者コホート研究から得られた知見をもとに、これらの進歩について主にお話いただける予定です。多数の皆様のご参集をお待ちしております。
（文責：佐藤 茂）

Abstract：

Inherited retinal diseases are genetically diverse, with over 500 known disease genes. Despite this, around 40% of patients still lack a genetic diagnosis, and treatment options remain very limited. Large, well-characterised patient cohorts are a powerful resource for addressing this gap. They enable the discovery of new disease genes, new disease phenotypes, and new genotype-phenotype relationships, as well as a better understanding of disease mechanisms. This, in turn, can drive the development of new treatments and support better clinical care. This talk will draw on findings from a large UK inherited retinal disease patient cohort to illustrate these areas of progress. Together, these examples show how large-scale clinical and genomic data, combined with functional validation, can drive both diagnostic and mechanistic advances in inherited retinal disease.

Bio：

Dr Serene Siying Lin is an ophthalmologist and researcher at the University of Manchester and Manchester University NHS Foundation Trust, UK. Her research focuses on inherited retinal disease, combining clinical ophthalmology, molecular diagnostics and functional genomics to improve diagnosis and understand the disease mechanisms underlying these conditions, with the aim of paving the way for new therapeutic approaches.

紹介文：

David Huang 先生は眼科画像診断とレーザー・光学技術の臨床応用を専門とする眼科医・研究者です。 1991 年に Optical Coherence Tomography（OCT）を共同発明されて以来、OCT の技術開発と眼科領域への臨床応用を世界的に牽引してこられました。本講演では、OCT 誕生の着想から臨床実装に至る歩みを発明者の視点から振り返り、眼疾患診療における OCT の主要な応用、血流や視細胞機能を捉える最新技術、さらに心血管・神経疾患スクリーニングへの可能性についてお話しいただきます。
（文責：高 静花）

抄録：

Optical coherence tomography (OCT) is a technology invented in 1991 to image small critical tissue structures with micrometer resolution. It is widely used in the clinical diagnosis of eye and coronary heart diseases. I will tell the story of OCT’s initial conception from the inventor’s perspective along with an account of the rapid pace of development that made OCT a clinical reality. The roles of academia, industry, and government agencies in the clinical translation of OCT will be highlighted. The major applications of OCT in the management of eye diseases will be shown. Recent advances that enable OCT to advance beyond the imaging of tissue structure to the detection of blood flow and photoreceptor function will be described. The potential for ocular OCT to be used for the screening of cardiovascular and neurological diseases will be described.