Research Centre for Medical Genetics
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Moscow 115522, Russian Federation
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RCMG is developing a test-system for early diagnosis of spinal muscular atrophy

Spinal muscular atrophy (SMA) is a rare genetic disease included in the advanced neonatal screening that will start in Russia in 2023. The test-systems for detecting newborns with spinal muscular atrophy must meet the following requirements: quick diagnostic procedure, simplicity of the methodology not requiring expensive laboratory equipment, and affordable price in comparison with foreign analogues.  The Bochkov Research Centre for Medical Genetics with the support of Roche Company will launch a domestic test-system for detecting SMA newborns. Its development is in its final stage, and the new test-system will be offered for use in the advanced national neonatal screening.

“Spinal muscular atrophy is one of the most common rare diseases. The largest number of SMA children are those with type I disease, and in 90% of cases the disease becomes rapidly fatal. At the same time, the spinal muscular atrophy is one of those diseases for which an effective treatment exists. It is extremely important to prescribe it before the appearance of the first symptoms, which may become noticeable in the 2-3 months of a child's life. The prescription of pathogenetic treatment in the preclinical stage has been proven to ensure normal development of children. Today, there are several screening test-systems for the SMA early detection. The test-system being developed at the Bochkov Research Centre for Medical Genetics has demonstrated its effectiveness,” Sergei Kutsev, chief external expert in medical genetics of the Russian Ministry of Health, RAS Corresponding Member, director of Academician Botchkov Research Centre for Medical Genetics, said.

The domestic test-system have no any high quality requirements for sample preparation; the study is performed on dry blood spots, the material obtained as part of neonatal screening. They take blood from the heel of a newborn baby for testing, and then it is applied to a special filter. In this form, the sample is sent to the laboratory, where it is analyzed for the most frequent hereditary diseases.

“Our test system is qualitative rather than quantitative; it detects changes in the structure of the SMN1 gene. The test itself is a PCR followed by a melting curve analysis. This has made the technique available for use in any laboratory that performs mass neonatal screening studies. We have tested the efficacy of this test system on more than 2,000 samples, most of which are population-based samples. The SMN1 gene deletion was accurately detected even in the most complicated cases,” Alexander Polyakov, Head of the RCMG DNA-diagnostics laboratory, RAS Corresponding Member, said.