Progress in the diagnosis and treatment of rare diseases in the era of genomic medicine / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
;
(12): 813-817, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-797391
ABSTRACT
There are many different kinds of rare diseases, of which most are with serious, complicated, and non-specific symptoms, and great difficulties exist in both diagnosis and treatment of rare diseases. In the era of genomic medicine, with the extensive application of next-generation sequencing technology and in-depth research of gene therapy, the diagnosis and treatment of rare diseases has ushered in a new turn. The next-generation sequencing technology enables high-throughput detection, assists in clinically efficient phenotypic assessment and disease diagnosis and promotes research on the pathogenesis and treatment of rare diseases; gene therapy technology continues to improve, and drugs are successively acquired, which brings the hope for cure to patients with rare diseases. This article will provide a brief overview of the advances and challenges of the diagnosis and treatment of rare diseases in the era of genomic medicine.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
Language:
Chinese
Journal:
Chinese Journal of Endocrinology and Metabolism
Year:
2019
Type:
Article
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