Intractable Rare Dis Res. 2023;12(3):148-160. (DOI: 10.5582/irdr.2023.01052)

Diagnosis, treatment, and research status of rare diseases related to birth defects

Zhao HJ, Du C, Yang G, Wang Y


Rare diseases are diseases that occur at low prevalence, and most of them are chronic and serious diseases that are often life-threatening. Currently, there is no unified definition for rare diseases. The diagnosis, treatment, and research of rare diseases have become the focus of medicine and biopharmacology, as well as the breakthrough point of clinical and basic research. Birth defects are the hard-hit area of rare diseases and the frontiers of its research. Since most of these defects have a genetic basis, early screening and diagnosis have important scientific value and social significance for the prevention and control of such diseases. At present, there is no effective treatment for most rare diseases, but progress in prenatal diagnosis and screening can prevent the occurrence of diseases and help prevent and treat rare diseases. This article discusses the progress in genetic-related birth defects and rare diseases.

KEYWORDS: rare diseases, birth defects, diagnosis, treatment, prevention and control

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