This Research Topic is part of a series with:
Genetic and Environmental Factors in the Occurrence of Neonatal Disorders - Volume IIn the previous research topic, we focused on genetic and environmental factors in the occurrence of neonatal diseases, this study is an extension and continuation of the previous research topic. In addition to focusing on newborns, this research topic also focuses on infants and children. Genetic factors play a very important role in the occurrence of paediatric disorders.
At present, next-generation sequencing (NGS) techniques such as whole-exome sequencing are widely used in clinical diagnosis of genetic disorders; Comprehensive genetic testing in newborns is expected to find some birth defects caused by genetic factors such as chromosome structure abnormalities, copy number variation and point mutations. With the application of NGS technology in a neonatal intensive care unit (NICU) and Pediatric Intensive Care Unit (PICU), some undiagnosed diseases have been diagnosed and corresponding interventions have saved the lives of children in time. In the previous Research Topic, most of the published articles focused on this field.
In the era of Covid-19, compared with traditional culture-based clinical microbiology diagnosis methods, metagenomic next-generation sequencing (mNGS) can rapidly identify disease-associated pathogenic microorganisms and play a rapid diagnosis of pediatric infectious diseases play an important role in the rapid diagnosis of pediatric infectious diseases. Newborns or infants with genetic defects are more susceptible to environmental damage. Life-threatening infections caused by opportunistic pathogens may represent the initial manifestations of primary immunodeficiency. Streptococcus agalactiae (GBS) has been isolated from pregnant women and newborns in various countries, it can cause early-onset and late-onset infections in newborns and can cause sepsis and meningitis with high fatality rate; Whether and how genetic factors play an important role in pathogenic infections such as GBS is worthy of further study. At the same time, more and more evidence shows that common genetic variants may play a role in the pathogenesis of preterm infants’ infection. In summary, it is necessary to study the role and interaction of genetic and environmental factors and their interactions in the occurrence of neonatal disorders.
This research topic aims to provide a comprehensive overview of how genetic and non-genetic factors play a role in paediatric disorders.
In this research topic, we welcome all papers, including original research, case reports, systematic reviews, and meta-analysis. Please note that case reports must conform to journal guidelines which can be found
here). We also welcome clinical and pre-clinical research and basic research in humans and/or animals.
•Application of genetic sequencing technology in paediatric disorders.
•Rapid whole-genome/whole-exome sequencing technology is applied to severely ill infants.
•Multi-omics technologies, such as genome sequencing, transcriptome sequencing, proteomics, metabolomics, metagenomics NGS, and other technologies are used for the assessment of infectious diseases in severe infants.
•Research on the correlation between life-threatening infections caused by opportunistic pathogens and host genes.
•Research on new genetics, proteins (cytokines, signal molecules) and metabolite markers involving the occurrence, development and clinical manifestations of paediatric disorders.