Medical care of rare and undiagnosed diseases: Prospects and challenges

• Published in: Fundamental research (Beijing) Vol. 2; no. 6; pp. 851 - 858
• Main Authors: Shan, Zhiyan, Ding, Lijun, Zhu, Caiyun, Sun, Ruijuan, Hong, Wei
• Format: Journal Article
• Language: English
• Published: China Elsevier B.V 01.11.2022; KeAi Publishing; KeAi Communications Co. Ltd
• Subjects: Animal model; Diagnosis; Gene; Rare disease; Review; Therapy; Undiagnosed disease; Animal model; Therapy; Undiagnosed disease; Diagnosis; Gene; Rare disease

Rare and undiagnosed diseases tend to be diverse, misdiagnosed, and difficult to diagnose. In some cases, the disease is progressive and life-threatening. Yet, to date, an estimated 95% of rare diseases have no approved therapy. Therefore, rare and undiagnosed diseases are considered the ultimate ch...