Artificial Intelligence Supports Research Progress in the Diagnosis and Treatment of Rare Diseases
10.12376/j.issn.2097-0501.2022.02.003
- VernacularTitle:人工智能支持罕见病诊疗的研究进展
- Author:
Mengchun GONG
1
;
Yuanshi JIAO
2
;
Wuren MA
2
;
Peng LIU
3
,
4
;
Ye JIN
3
,
4
;
Jifa HU
5
;
Ling NIU
6
;
Wenzhao SHI
2
;
Shuyang ZHANG
3
,
4
Author Information
1. School of Health Management, Southern Medical University, Guangzhou 510515, China.
2. Chinese Academy of Medical Sciences, Digital China Health Technologies Corporation, Beijing 100080, China.
3. Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
4. Peking Union Medical College, Beijing 100730, China.
5. The Central Hospital of Wuhan, Wuhan 430014, China.
6. The People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830011, China.
- Publication Type:Journal Article
- Keywords:
artificial intelligence;
machine learning;
rare disease;
diagnosis;
treatment;
drug repositioning;
drug development
- From:
JOURNAL OF RARE DISEASES
2022;1(2):101-109
- CountryChina
- Language:Chinese
-
Abstract:
It is noteworthy that only 5% of more than 7000 described rare diseases are treated. In the era of big data, there is ever-increasing data for understanding biomedicine. The need for efficient and rapid data collection, analyses and characterization methods is pressing. Rare diseases can particularly benefit from artificial intelligence (AI) application. AI, with an emphasis on machine learning, creates a path for such efforts and is being applied to diagnosis and treatment. AI has demonstrated its potential to learn and analyze data from different sources with results in prediction。Presently, there are AI-driven technologies applied for rare diseases and this review aims to summarize these advances. Moreover, this review scrutinizes the limitation and identifies the pitfalls of AI applications in the diagnosis and treatment of rare diseases.
