The newborn screening program for rare genetic diseases may be expanded.

In Russia in 2024, more than 1.2 million newborns underwent neonatal screening, and 726 were found to have orphan diseases. The program is effective, and specialists from the Medical-Genetic Scientific Center named after Academician N.P. Bochkov suggest expanding the screening by including several more conditions in the program.

πŸ“ Summary

In Russia in 2024, more than 1.2 million newborns underwent neonatal screening, and 726 were found to have orphan diseases. The program is effective, and specialists from the Medical-Genetic Scientific Center named after Academician N.P. Bochkov suggest expanding the screening by including several more conditions in the program.

Director of the Bochkov Medical Genetics Research Center, corresponding member of the Russian Academy of Sciences, professor, chief freelance specialist in medical genetics at the Ministry of Health Sergey Kutsev in a live broadcast on the "Listening!" radio channel on Radio Russia:

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