The China Neonatal Genomes Project(CNGP):New Advances in the Cohort Study of Genotype and Phenotype of Rare Diseases
10.12376/j.issn.2097-0501.2024.03.002
- VernacularTitle:中国新生儿基因组计划:罕见病基因型与表型队列研究的新进展
- Author:
Xinran DONG
1
;
Wenhao ZHOU
Author Information
1. 复旦大学附属儿科医院分子医学中心,上海 201102
- Keywords:
rare diseases;
China Neonatal Genomes Project;
genotype and phenotype;
cohort study
- From:
JOURNAL OF RARE DISEASES
2024;3(3):280-287
- CountryChina
- Language:Chinese
-
Abstract:
Rare diseases occupy a critical position in global public health concern,profoundly influen-cing pediatric demographics,particularly in neonates.The rapid development of next-generation sequencing technologies in recent years has significantly enhanced the capacity for early detection and targeted treatment strategies for rare diseases.Globally,neonatal genome projects are being implemented with the primary goal of demonstrating the efficacy and benefits of gene sequencing technology in diagnosing genetic rare diseases.Spe-cifically in China,the Genetic Counseling Branch of the Chinese Genetics Society,in partnership with the Children's Hospital of Fudan University,launched the China Neonatal Genomes Project(CNGP).This pro-ject,including 100 000 cases and integrating extensive genomic data with detailed phenotypic information,aims to facilitate a thorough investigation of genotype-phenotype correlations in rare neonatal diseases.These ini-tiatives will not only open new pathways for the early identification of genetic factors in rare diseases but also are instrumental in the advancement of precision medicine.Moreover,they may also contribute to the fields of phar-macogenomics and the understanding of adult-onset diseases.Based on various genotype-phenotype cohort studies undertaken by the CNGP,we review the data collection process related to genotype-phenotype in neo-natal rare diseases and outline the advancements in previous cohort studies.We also intend to assess the present challenges on neonatal rare diseases,and propose insightful recommendations for future studies.
