Children Genetics Japan

Japanese University Team Finds Causes of Unexplained Diseases in Babies

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.

From Jiji Press

January 4 2022

TOKYO – 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.

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