The second IRDiRC conference, co-organized by the International Rare Diseases Research Consortium (IRDiRC) and BGI, was successfully held on 7-9 November in Shenzhen. This three-day conference was attended by more than 600 participants, worldwide, including world-class genetic researchers, clinicians, global industry thought leaders, top policy makers and so on. More than 50 institutes and organizations, over 40 media partners and several patient groups also participated in the conference.
The conference gathered top rare diseases researchers and clinicians from Europe, Americas and Asia for dynamic exchanges on knowledge and expertise. The event also included an educational track. Topics, including emerging technologies and tools, therapies and also science advocacy, were discussed and explored.
Paul Lasko, chair of the IRDiRC Executive Committee shared the scope and the goal of IRDiRC that is by 2020 to diagnose most of rare diseases and develop 200 news therapies. Jun Wang, Director of BGI, said that currently there are at least five steps can be applied to prevent rare diseases: Carrier genetic screening, Preimplantation genetic screening and diagnosis, Non-invasive prenatal genetic testing, Non-invasive prenatal testing from fetal cell and Newborn screening.
Han Brunner, from Nijmegen University Hospital showed that with the advancement of exome and whole genome sequencing technologies, more mutations related with rare diseases were found in recent years, however new rare diseases were also discovered, with de novo mutation identified not existing in the databases available. He said that to build a better database network, develop a better matchmaking system and explore new research methods are still challenges to overcome.
The conference has provided a platform for exchanging expertise, sharing experience and bridging connections for the rare disease community. To develop a more intergraded and comprehensive program, the joint efforts from the government, the industry and the clinical genetics are needed, for the better future of rare disease patients.