A pilot project of mass neonatal screening for SMA is being implemented on the basis of the Republican Medical and Genetic Center, a participant of the Eurasian REC

On the basis of the Republican Medical and Genetic Center (Ufa), a participant Eurasian REC, a pilot project of mass neonatal screening for spinal muscular dystrophy (SMA) and primary immunodeficiency will be implemented.

The launch of the pilot project was announced by the chief physician, co-organizer of the project "Medical and Genetic Research Center named after Academician N.P. Bochkov" Sergey Voronin at the forum "BIOTECHMED-2022", the organizer of the project is the head institution of the Medical and Genetic Service of Russia.
Currently, in most regions of Russia, mass neonatal screening is carried out only for 5 hereditary diseases: phenylketonuria, adrenogenital syndrome (dysfunction of the adrenal cortex), congenital hypothyroidism, galactosemia and cystic fibrosis. To identify these heavy diseases at the pre-symptomatic stage, newborns take blood from
the heel in the first days after birth. Now all newborns of the Republic of Bashkortostan will additionally be tested for spinal muscular atrophy (SMA) and primary immunodeficiency (PIDs). Establishing an accurate diagnosis before the first symptoms appear is extremely important for successful treatment.
"The Republic of Bashkortostan has become the 8th region to join the pilot project. Earlier it started in Ryazan, Vladimir, Orenburg, Sverdlovsk regions, Krasnodar Territory, Chechen The Republic and the Republic of North Ossetia-Alania. To date, more than 108,000 studies have been conducted at the MGNC. The diagnosis of spinal muscular atrophy was confirmed in 15 newborns before the first symptoms appeared," he noted Sergey Voronin, Chief Physician of the Academician N. P. Bochkov Medical and Genetic Research Center, Deputy Chief Freelance Specialist in Medical Genetics of the Ministry of Health of Russia, Ph.D.
Within the framework of the project, more than 200,000 newborns in 8 regions of Russia will be examined for SMA and genetic variations of PID - severe combined immunodeficiency and X-linked agammaglobulinemia.