The 13th International Undiagnosed Disease Network (UDNI) Conference was successfully held
- Strengthening the global network for rare disease diagnosis and research...Expected to accelerate diagnosis rate and treatment development
- Sponsorship of Seoul National University Hospital Child Cancer and Rare Disease Project, highlighting Korea's leading role in the rare disease research field
On September 10th, the Seoul National University Hospital Child Cancer and Rare Disease Project (Director Choi Eun Hwa) announced that the ‘13th International Undiagnosed Diseases Network International (UDNI)’ conference was successfully held at the CJ Hall of Seoul National University Children’s Hospital between September 5th to 7th.
This conference was the first international academic conference on undiagnosed rare diseases held in Korea and also celebrated the 10th anniversary of the International Undiagnosed Rare Disease Network, which was founded in 2014. With 282 researchers and experts from 30 countries (138 from overseas) attending, world-renowned scholars such as Joseph G. Gleeson (University of California San Diego, USA), Monkol Lek (Yale University, USA), Kenjiro Kosaki (Keio University, Japan), and Olaf Riess (University of Tübingen, Germany) presented their research results. In addition, research programs and results on undiagnosed diseases from Asian countries such as Thailand, Vietnam, India, and Taiwan were presented, providing an important opportunity to strengthen the network of Asian researchers.
Undiagnosed rare diseases are diseases that cannot be diagnosed with current life science technology worldwide, and for which, because cases are rare, research is difficult, causing great suffering to patients and their families. UDNI is an academic society that aims to assist these patients by identifying similar cases through international cooperation, gathering the capabilities of excellent researchers to promote research for diagnosis and treatment approaches, and ultimately providing diagnoses.
This conference was attended by many researchers from home and abroad, including Dr. William A. Gahl (Human Genome Research Institute, NIH), Helene Cederroth (founder of the Wilhelm Foundation), and researchers from NIH. They discussed, in-depth, various topics such as data integration and the sharing of data on undiagnosed patients, communication between patients and medical staff, collaboration between researchers, and the education and training of the next generation. This was an important opportunity to find ways to accelerate the development of diagnosis and treatment.
Several significant research findings were presented, including a large-scale genome-wide study on undiagnosed neurodevelopmental diseases conducted by the teams of Professor Chae Jong Hee (SNUH) and Professor Choi Moo Rim (Seoul National University College of Medicine) and a study on the discovery of a new HDAC3 gene by the team of Professor Lee Cheol Hwan (Seoul National University College of Medicine), which was published in the American Journal of Human Genetics. These studies confirm that Korea's research on undiagnosed rare diseases is globally competitive.
The conference received support from the Wilhelm Foundation, which has been a consistent supporter of UDNI for years, as well as the Seoul National University Hospital Child Cancer and Rare Disease Project. Researchers from 30 countries, including those from low-income countries, were invited to the conference, creating a valuable opportunity to establish an international network.
“This UDNI international conference was an important opportunity to demonstrate that Korea can emerge as an international leader in rare disease research,” said Chae Jong Hee, Director of the Rare Disease Division and Head of the Department of Clinical Genomic Medicine at Seoul National University Hospital. “In particular, this event provided a foundation for experts from around the world, including Asia, Africa, Europe, and the Americas, to gather and collaborate, and this international cooperation is expected to greatly contribute to increasing the diagnosis rate of domestic rare disease patients and discovering new treatments,” he added.
The Seoul National University Hospital Child Cancer and Rare Disease Project sponsoring this conference, was established in 2021 with a donation from the late Chairman Lee Kun Hee, and has supported the diagnosis of rare diseases through various genetic tests for 1,393 patients and 2,710 families in cooperation with 23 hospitals nationwide.
■ Homepage: https://udni2024seoul.org/index.php
[Photo 1] Professor Chae Jong Hee of Seoul National University Hospital (second from the left), Dr. William A. Gahl (third), Helene Cederroth, founder of the Wilhelm Foundation (fourth), Kim Young Tae, president of Seoul National University Hospital (fifth), Choi Eun Hwa, director of the Pediatric Cancer and Rare Disease Support Center at Seoul National University Hospital (sixth)
[Photo2] Professor Joseph G. Gleeson of the University of California, San Diego, giving a presentation