About this Research Topic
Genetic factors play a very important role in the occurrence of neonatal disorders. At present, next-generation sequencing (NGS) techniques such as whole-exome sequencing are widely used in the 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. Early intervention can effectively reduce neonatal mortality and neurological sequelae. We previously performed rapid whole-genome sequencing (rWGS) on infants of unknown diagnosis in an intensive care unit (ICU) (Wang et.al., Hum Genet, 2020), and the results show that rWGS for ICU infants with the unknown diagnosis has higher clinical utility and lower risk of harm, regardless of whether the result is positive or negative, rWGS is considered to be beneficial. Genetic screening of newborns also helps to detect severe combined immunodeficiency disease, thereby enabling early treatment options, such as stem cell transplantation.
In addition, newborns 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 neonatal disorders.
In this research topic, we welcome all papers, including original research, systematic reviews, and meta-analysis. We also welcome clinical and pre-clinical research and basic research in humans and/or animals.
• Application of genetic sequencing technology in neonatal 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 neonatal disorders.
Keywords: neonatal disorders, genetic sequencing, Multi-omics technologies, intensive care unit, infant infection genetics
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