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

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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

• Welcome address: S is for Science, Sharing and Shenzhen – Huanming Yang, BGI, China
• Welcome address: 2nd IRDiRC Conference – Paul Lasko, IRDiRC and Canadian Institutes of Health Research, Canada
• Rare diseases and the NHS 100,000 Genomes Project – Willem Ouwehand, University of Cambridge and Wellcome Trust Sanger Institute, UK
• Role of the advocacy organization in rare disease research – Sharon Terry, Global Alliance, USA
• Canada’s path forward for rare diseases: Discovery to translation – Kym Boycott, Children’s Hospital Eastern Ontario, Canada
• Supporting genomics in the practice of medicine – Heidi Rehm, Partners Personalized Medicine and Harvard Medical School, USA
• The NIH/NCATS GRDR Program: Collaborative program for the patients by the patients – Yaffa Rubinstein, NIH/NCATS, USA
• An universal platform for rare disease in China: from omics research to patient care – Yong Zhang, BGI, China

Track: Diagnostics

• Exome and genome sequencing in clinical practice – Christian Gilissen, Radboud UMC, the Netherlands
• Clinical exome sequencing at Baylor Whole Genome Laboratory: Molecular diagnosis and disease gene discoveries – Yaping Yang, Baylor College of Medicine, USA
• Diagnostics opportunities for rare disease with NGS – Sarah Sawyer, Children’s Hospital Eastern Ontario, Canada
• Prenatal diagnosis of rare genetic diseases: What doctors want from government and industry – Tao (Tony) Duan, Shanghai First Maternity and Infant Hospital, China
• PhenoTips & PhenomeCentral: Deep phenotyping and data sharing for rare disorders – Michael Brudno, University of Toronto, Canada

Track: Interdisciplinary

• Initiatives for data harmonization and sharing across biobanks and cohorts – Weiye Wang, Shanghai Jiao Tong University, China
• European policy in the field of rare disease to improve patient care and boost research – Ségolène Aymé, Inserm/IRDiRC, France
• Patient involvement and ethics in rare disease research – Alastair Kent, Genetic Alliance UK, UK
• Participant involvement: USA – Sharon Terry, Genetic Alliance, USA
• Ethic issues and practical problems in medical genetics – Shangzhi Huang, Peking Union Medical College, China
• Great strides in science… what about access? – Marlene Haffer, Haffner Associates, USA
• Drug repositioning in rare diseases: How to optimize access for patients – Raúl Insa, SOM Biotech, Spain

Track: Therapies

• Lysogene’s gene therapy in Sanfilippo syndrome – Karen Aiach, Lysogene, France
• Targeting cardiac sodium channel trafficking as therapy for rare inherited cardiac arrhythmias – Qing Wang, Huazhong University of Science and Technology, China
• Clinical and regulatory challenges for drug development in rare diseases – Marlene Haffner, Haffner Associates, USA
• Building the first comprehensive functional catalogue of a mammalian genome – Mark Moore, The International Mouse Phenotyping Consortium, USA
• NeuroNEXT: Challenges and possibilities for exploratory trials in neurological diseases – Elizabeth McNeil, NIH/NINDS, USA
• Origin and the spectrum of rare variants: Lessons learned from Autism and Psoriasis studies – Xin Jin, BGI, China

Track: Educational

• Human Genome Project, genomics and its relevance to medicine – Huanming Yang, BGI, China
• Genomic medicine: Current status and future – Zhiyu Peng, BGI, China
• Monogenic diseases – Shangzhi Huang, Peking Union Medical College, China
• Medical cytogenetics – Jin Fan, Zhejiang University School of Medicine, China
• Human biochemical genetics – Shangzhi Huang, Peking Union Medical College, China

Training Course

• Genetic tests and human variome project – Ming Qi, BGI, China
• Human genetic variations and mutations – Ming Qi, BGI, China