Article PDF
References
Bai, D.Y., Shi, W., Qi, Z., Li, W., Wei, A.H., Cui, Y.H, Li, C., and Li, L. (2017). Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations. Sci China Life Sci 60
Bai, D.Y., Zhao, J.Y., Li, L., Gao, J, and Wang, X. (2017). Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex. Sci China Life Sci 60
Cai, S., Wang, X.S., Wen, Z., Fu, L.B., Ma, X.L., and Peng, X.X. (2017). DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma. Sci China Life Sci 60
Fang, F, Liu, Z.M., Fang, H.Z., Wu, J., Shen, D.M., Sun, S.Z., Ding, C.H., Han, T.L., Wu, Y., Lv, J.L., Yang, L., Li, S.F., Lv, J.X., and Shen, Y. (2017). The clinical and genetic characteristics in children with mitochondrial disease in China. Sci China Life Sci 60
Fu, L.B., Jin, Y.Q, Jia, C., Zhang, J., Tai, J., Li, H.B., Chen, F., Shi, J., Guo, Y.L., Ni, X., and He, L.J. (2017). Detection of FOXO1 break-apart status by fluorescence in situ hybridization in atypical alveolar rhabdomyosarcoma. Sci China Life Sci 60
Geng, J.Q., Wang, H.M., Liu, Y.H., Jun Tai J., Jin, Y.Q., Zhang, J., He, L.J., Fu, L.B., Qin, H., Song, Y.L., Su, J.Z, Zhang, A.Y., Wen, X., Guo, Y.L., and Ni, X. (2017). Correlation of BRAF V600E and clinicopathological features in pediatric papillary thyroid carcinoma. Sci China Life Sci 60
Li, C.F., Zhang, J.M, Li, S.P., Han, T.X, Kuang, W.Y., Zhou, Y.F., Deng, J.H., and Tan, X.H. (2017). Gene mutations and clinical phenotypes in Chinese children with Blau syndrome. Sci China Life Sci 60
Liu, B.C., He, L., He, G., & He, Y. (2010). A cross-national comparative study of orphan drug policies in the United States, the European Union, and Japan: towards a made-in-China orphan drug policy. J Public Health Policy 31, 407–420.
Qi, Z., Shen, Y., Fu, Q., Li, W., Yang, W., Xu, W.S., Chu, P., Zhang, Y.X., and Wang, H. (2017). Whole exome sequencing identified compound heterozygous variants in MMKS gene in a Chinese pedigree with bardet biedl syndrome. Sci China Life Sci 60
Song, P., Gao, J., Inagaki, Y., Kokudo, N., and Tang, W. (2012). Rare diseases, orphan drugs, and their regulation in Asia: Current status and future perspectives. Intractable Rare Dis Res 1, 3–9.
Wang, Y., Gong, C.X., Wang, X., and Qin, M. (2017). AR mutations in 28 Patients with Androgen Insensitivity Syndrome Presented Prader 0-3. Sci China Life Sci 60
Wu, D., Gong, C.X., and Su, C. (2017). Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome. Sci China Life Sci 60
Author information
Authors and Affiliations
Corresponding authors
Additional information
Dr. Xin Ni was graduated from Harbin Medical University and received his Bachelor of Medicine Degree in 1991. From 1991 to 2010, he worked in Beijing TongRen Hospital and successively had experience of surgical resident, attending surgeon, assistant to dean and deputy dean. During this period, he received Master of Medicine from Beijing TongRen Hospital & Beijing Institute of Otolaryngology, and Master of Public Administration from Beijing University of Aeronautics and Astronautics in 2006. From 2010 to 2012, he worked in Beijing AnZhen Hospital as Deputy Dean. In 2012, Dr. Xin Ni received his Ph.D Degree from Harbin Medical University. Since 2012, Dr. Xin Ni was appointed as president of Beijing Children Hospital & Beijing Pediatric Research Institute, professor of Department of Otolaryngology head and neck surgery, and chief of Beijing Biobank of Clinical Resources in Pediatric. Under President Ni’s leadership, Beijing Children’s Hospital Group was officially established on May 31, 2013, sharing pools of experts, clinical diagnosis, research, and training resources. It then went further to build Futang Research Center of Pediatric Development, with a total of 20 provincial level children’s hospitals in 2016. The idea that “all Pediatrics departments nationwide belong to one system” is gradually being realized. In 2017, Beijing Children’s Hospital has been approved as “National Center for Children’s Health, China” by the National Health and Family Planning Commission.
Dr. Tieliu Shi received his Master degree in Plant Physiology from Shanghai Institute of Plant Physiology, Chinese Academy of Sciences in 1992; Master degree in Computer Science in 1999 and Ph.D degree in Molecular Biology in 2000 from the University of Louisville, USA. After obtained Ph.D degree, he pursued bioinformatics research and joined the Bioinformatics Center, Shanghai Institute of Biological Sciences, Chinese Academy of Sciences between 2002 and 2008. He moved to East China Normal University by the end of 2008 and served as full professor. He has various research interests, including (i) clinical data standardization and integration analysis; disease gene, disease mechanism and biomarker discovery based on multi- level data integration of omics and clinical information; (ii) Methodology developments and applications in the high through-put data (NGS data, proteomic data, etc.); (iii) gene regulatory network prediction and protein-protein interaction network prediction; (iv) drug target, drug efficacy and adverse prediction, including Traditional Chinese Medicine. He has published more than 100 peer-review papers.
Rights and permissions
About this article
Cite this article
Ni, X., Shi, T. The challenge and promise of rare disease diagnosis in China. Sci. China Life Sci. 60, 681–685 (2017). https://doi.org/10.1007/s11427-017-9100-1
Received:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11427-017-9100-1