Second IRDiRC Conference on November 7-9, 2014 in Shenzhen, China

The 2nd International Rare Diseases Research Consortium (IRDiRC) Conference took place in Shenzhen, China, on 7-9 November 2014. Co-organized between IRDiRC and BGI, over 600 participants from Asia, Europe, North America and Australasia attended this successful meeting, including academics, researchers, clinicians, industry leaders, policy makers and patient advocates.

Based on the theme of collaboration, inspired by the inaugural IRDiRC-2013 Conference in Dublin, Ireland, this meeting provided the opportunity for Chinese and international stakeholders active in the field of rare disease to forge links. Emphasis was also placed on sharing expertise, information and technology via global networks to improve diagnosis of rare diseases, patient access to best treatment and care, and patient and family support.

Three plenary sessions explored the current state of rare disease research and shared success stories. Three parallel tracks of presentations – reflecting the three scientific committees of IRDiRC: Diagnostics, Interdisciplinary, Therapies – provided outlook on challenges and advances in each of these areas. An additional Educational track, coupled with a Training Course day, imparted knowledge on underlying disease mechanisms, diagnostic evaluations and improved medical care. Simultaneous English-Chinese translation was provided during the conference sessions to facilitate understanding of the materials presented.

This conference provided a wide platform for exchange on expertise and experience. Among the activities taking place during the conference were NGO forums, biotechnology investment forum, and face-to-face meeting opportunities.

Another important facet of this meeting was the contributions from Chinese rare disease patients themselves, whose presence was indicative of the growth of supportive networks and the thirst for information as a form of empowerment to those affected by rare diseases. Their show of courage spurred further determination and renewed promises that rare disease research must be prioritized, patient welfare must not be neglected, and joint efforts from all stakeholders are vital to advance the progress already made thus far.

This meeting was made possible through the generosity and continuous support of BGI China. IRDiRC would like to thank BGI for hosting the IRDiRC-2014 Conference and welcoming all participants to Shenzhen, China.

BGI, founded in 1999, is today the world’s largest genomics center. With affiliated branches in America, Europe and Asia Pacific, BGI has a global academic and business reach, and provides comprehensive high-throughput genomics platform and in-depth bioinformatics services for medical, agricultural and environmental applications. Its multidisciplinary scientific team provides expertise and research experience, and it has published over 600 publications, many in top-tier journals including Nature and Science.

Selected Presentations

Plenary Sessions

Track: Diagnostics

Track: Interdisciplinary

Track: Therapies

Track: Educational

Training Course