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- BGI Launches the Latest Desktop Sequencer BGISEQ-50
- International Science Community Welcomes China National GeneBank Opening
- BGI and Clearbridge BioMedics Partner to Develop China CTC Liquid Biopsy Market towards Precision Medicine
- The international Sc2.0 Project is on track to build the world’s first synthetic yeast genome
- Avian-specific conserved genomic elements play important regulatory roles in the macroevolution of avian-specific features
- The Evolution of Chronic Lymphocytic Leukemia Revealed
- BGI involved in publication of the first seahorse genome in Nature
- Leading Health Organizations in Canada and China Teaming up to Accelerate Precision Medicine
- World’s largest genomic organisation to collaborate with leading Queensland researchers
- Ranomics Partners with BGI to Classify Variants of Unknown Significance
- BGI and UW collaborate on precision medicine development
- Chinese innovation : BGI’s code for success
- Prof. Huanming Yang to Receive Membership from Royal Danish Academy of Sciences and Letters
- UW, Chinese genomics group forge new partnership to advance biomedical research
- Mapping more genomes will create a healthcare 'big data revolution'
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November 12, 2014, Shenzhen, China--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.