The rare diseases are characterized by an incidence less than 6.5/10000, which are both an ideal field of the precision medicine research and a significant area of clinical practice. The study of rare endocrine diseases, including the multiple endocrine neoplasia (MEN), the neonatal diabetes, the Cushing's syndrome and the congenital leptin deficiency syndrome, witnesses the development and the impact of the precision medicine. Based on a review in this respect, we discusses the future trend of the precision endocrinology in China. The precision medicine applied in the endocrine diseases such as the osteoporosis, the diabetes, and the obesity enables a better assessment of the individual risk of the endocrine diseases and can also help subclassify the diseases. Consequently, an individualized therapy could be realized. Furthermore, the medical informatics applied in the precision endocrinology may help the progress of building a big data platform and cast light in the new therapy of multifactorial diseases. The precision medicine of the rare endocrine diseases will become more prominant in a near future with the development of the sequencing technology and the establishment of the big data platform.

rare disease  /  precision medcine  /  endocrinology  /  medical informatics