赤ちゃん病因、ゲノムで特定　原因不明の半数で成功―慶大など

　病気の原因が不明だった赤ちゃんの全遺伝情報（ゲノム）を解析した結果、約半数で病因が特定できたと、慶応大などのチームが４日、公表した。より適切な検査や治療につながったという。
　日本の新生児医療は世界最高水準とされるが、新生児集中治療室に入る約１割では病気の原因が不明とされる。研究には全国１７の高度周産期医療センターが参加し、２０１９年４月～２１年３月、重症の赤ちゃん８５人について、血液を基にゲノム解析を実施した。
　その結果、４１人が生まれつきの遺伝性疾患だったことが分かり、うち２０人は診断結果を基に検査や治療法を変更した。効果の高い薬を使用できたり、臓器移植で救命できる可能性があることが判明したりした。研究チームは「社会の中で最も弱い赤ちゃんについて、ゲノム解析が医療技術として極めて有用であることが示された」と指摘している。（2022/02/04-20:36）

A Japanese team led by Keio University said Friday that it has succeeded in identifying in a study using genome analyses the causes of diseases in about half of babies that had been unknown.
   The feat led to more appropriate examinations and treatment, the team said.
   While Japan's neonatal care is one of the best in the world, the causes of diseases are unknown for some 10 pct of babies taken care of in neonatal intensive care units, according to sources familiar with the matter.
   In the study, which was joined by 17 advanced perinatal care centers across the country, genome analysis was conducted for blood samples from 85 babies with severe illness between April 2019 and March 2021.
   Forty-one of the babies were found to have been born with genetic diseases. Based on the analysis, methods of medical examination or treatment were changed for 20 of them. For some babies, more effective medications were found to be available or the possibility of their lives being saved through organ transplants was shown.