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Gene test proposed following neonatal encephalopathy

Wednesday August 5th 2020

Gene profiling could predict outcomes for new born babies following oxygen deprivation, as well as help explain the mechanisms causing the damage, British researchers say.

A team, led by Dr Paolo Montaldo of Imperial College London, UK, investigated whether a “whole blood transcriptomic signature” test given soon after birth, predicts adverse outcomes at 18 months of age.

They carried out gene sequencing on blood samples taken within six hours of birth from 45 babies born in India with encephalopathy.

The ‘good outcome’ and ‘adverse outcome’ groups differed in the expression of 855 genes. Of these, the most significant were RGS1 and SMC4.

Details appeared yesterday (4 August) in Scientific Reports. The researchers write: “Biological pathway analysis revealed over-representation of genes from pathways related to melatonin and polo-like kinase in babies with adverse outcome.

“These preliminary data suggest that transcriptomic profiling may be a promising tool for rapid risk stratification in neonatal encephalopathy. It may provide insights into biological mechanisms and identify novel therapeutic targets for neuroprotection.”

Dr Montaldo said: "We know that early intervention is key to preventing the worst outcomes in babies following oxygen deprivation, but knowing which babies need this help, and how best to help them, remains a challenge."

Co-author Professor Sudhin Thayyil added: "The results from these blood tests will allow us to gain more insight into disease mechanisms that are responsible for brain injury and allow us to develop new therapeutic interventions or improve those which are already available."

Montaldo, P. et al. Transcriptomic profile of adverse neurodevelopmental outcomes after neonatal encephalopathy. Scientific Reports 4 August 2020; doi: 10.1038/s41598-020-70131-w

https://www.nature.com/articles/s41598-020-70131-w

Tags: Brain & Neurology | Childbirth and Pregnancy | Genetics | Nursing & Midwifery | Pharmaceuticals | UK News

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