Documenting rare disease data in China

Rare Diseases have benefited from increasing public awareness in China. The upcoming establishment of a Rare Diseases Prevention and Treatment Law ([ 1 ][1]) and the foundation of the Chinese Organization for Rare Disorders (CORD) have promoted the development of rare–disease management. However, for most rare diseases, our understanding of their etiology and pathogenesis is poor, and few effective treatment methods exist. Many Western countries are aware of the importance of rare-disease data and have made substantial efforts to promote data sharing and consolidated data collection for rare diseases, such as the Canadian Organization for Rare Disorders and the European Reference Networks ([ 2 ][2]). By contrast, there is still no similar public database or cooperative platform being developed in China, although this country supports relatively abundant patient resources. Undoubtedly, this is a huge loss for rare disease research, not only in China but also worldwide. ![Figure][3] The Pipra fasciicauda is among the many bird species with unknown natural histories. PHOTO: © GLENN BARTLEY/ BIA/MINDEN PICTURES/CORBIS With support from local regulatory bodies and the Ministry of Science and Technology of China Grants (973 program, 2015CB964600), a pilot project aimed at conducting clinical and translational research on congenital cataracts, Childhood Cataract Program of the Chinese Ministry of Health (CCPMOH), is being conducted at Zhongshan Ophthalmic Center, Sun Yat-sen University in Guangzhou, one of China's largest eye care facilities. Since 2011, we have included clinical data for over 1300 patients in our clinical database [the largest clinical database of congenital cataracts registered at [www.clinicaltrials.gov][4] (NCT01417819)], containing information on the entire treatment process and the follow-up records. In addition, more than 200 bio-specimens from pediatric patients have been collected and stored in our bio-bank, which can be used for future biological research. Efforts made by a single center or an independent team are clearly insufficient. Changing this situation in China will be a win-win both for doctors and their patients with rare diseases. We hope that this model, along with those of Canada and Europe, will serve as a guide for policy-makers working to promote easier access to data exchange and integration and to construct a nationwide data-sharing platform in China. 1. [↵][5]1. J. J. Gao, 2. P. P. Song, 3. W. Tang , Drug Discoveries Therapeut. 7, 126 (2013). [OpenUrl][6] 2. [↵][7]1. M. I. Bellgard 2. et al ., Health Pol. Technol. 3, 325 (2014). [OpenUrl][8][CrossRef][9] [1]: #ref-1 [2]: #ref-2 [3]: pending:yes [4]: http://www.clinicaltrials.gov [5]: #xref-ref-1-1 View reference 1 in text [6]: {openurl}?query=rft.jtitle%253DDrug%2BDiscoveries%2BTherapeut.%26rft.volume%253D7%26rft.spage%253D126%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [7]: #xref-ref-2-1 View reference 2 in text [8]: {openurl}?query=rft.jtitle%253DHealth%2BPol.%2BTechnol.%26rft.volume%253D3%26rft.spage%253D325%26rft_id%253Dinfo%253Adoi%252F10.1016%252Fj.hlpt.2014.08.007%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [9]: /lookup/external-ref?access_num=10.1016/j.hlpt.2014.08.007&link_type=DOI