The Orenburg region became a participant in a pilot project for mass neonatal screening for spinal muscular atrophy and primary immunodeficiencies

Today, the organizer of the pilot project of mass neonatal screening for spinal muscular atrophy (SMA) and primary immunodeficiencies is the Research Centre for Medical Genetics - the head institution of the Medical Genetic Service of Russia. The laboratory of the Research Centre for Medical Genetics has already conducted a study of over 6,000 samples of biomaterial from newborns in the Orenburg region.

The Research Centre for Medical Genetics is not only the organizer of the pilot project, but also conducts the process of confirmatory diagnostics of spinal muscular atrophy.

Newborns with a high risk of having the disease as a result mass neonatal screening will be sent for confirmatory diagnostics to specialized institutions. To establish the diagnosis of SMA, specialists of the Research Centre for Medical Genetics will search mutations in the SMN1 gene, and will also determine the number of copies of the SMN2 gene, which is extremely important for the timely initiation of therapy. Confirmatory diagnosis of primary immunodeficiencies is carried out in some cases on the basis of the Dmitry Rogachev National Research Center for Pediatric Hematology, Oncology and Immunology.

- Mass neonatal screening for hereditary diseases is going to expand across the country only from next year. However, thanks to the pilot project of the Research Centre for Medical Genetics, seven regions have already been able to detect newborns with spinal muscular atrophy and primary immunodeficiencies at a stage when neither parents nor doctors see the manifestations of the disease. The Orenburg region joined the pilot project and took advantage of this opportunity. It means that children born this year have a chance to save life and health. Early diagnosis is provided by specialists of the Research Centre for Medical Genetics together with our regional specialists. The treatment for children is available thanks to the “Krug dobra” Foundation, - said Tatyana Savinova, Vice Governor, Deputy Prime Minister for Social Policy, Minister of Healthcare of the Orenburg Region.

The Research Centre for Medical Genetics has already conducted research on more than 35,000 samples that came from the regions that joined the pilot project. Spinal muscular atrophy was diagnosed in 8 newborns. At present, research on SMA in all pilot regions has been fully debugged at the Research Centre for Medical Genetics.