Medical Genetics Research Center named after Academician N. P. Bochkov is considering adding two new genetic conditions to Russia’s neonatal screening program: Duchenne-Becker muscular dystrophy and AADC syndrome. This initiative aims to enhance early detection and treatment of genetic disorders, aligning with broader efforts to improve healthcare services in Russia.
Currently, Russia’s expanded neonatal screening program covers over 36 rare and inherited diseases, significantly increasing the scope of conditions detected at birth. This program has shown effectiveness in providing timely medical interventions and has been supported by significant investments in healthcare infrastructure.
In the future, the center also plans to explore diagnosing a group of lysosomal storage diseases, including Pompe, Gaucher, Krabbe, Niemann-Pick type AB, and mucopolysaccharidosis type I. Early detection of these conditions can lead to effective treatments such as hematopoietic stem cell transplantation and enzyme replacement therapy.
