Scientists at the Research Institute of Medical Genetics, Tomsk NRMC, have patented a method for diagnosing spinal muscular atrophy (SMA) using digital PCR technology.
"The innovation is designed to address the "blind spots" of current neonatal screening. Currently, all infants in the Russian Federation are tested for SMA using real-time PCR as part of the expanded neonatal screening program. This is a crucial step that saves hundreds of lives every year," — commented Vadim Stepanov, Director of Tomsk NRMC, Academician of the Russian Academy of Sciences.
Diagnosis by digital PCR helps overcome several significant limitations. Thanks to the development by Tomsk scientists, it will become possible to:
• Simultaneously detect deletion of the SMN1 gene exon 7 and determine the copy number of the SMN2 gene. This is a key indicator: the number of SMN2 copies directly influences disease severity and the choice of treatment protocol.
• Diagnose rare forms. The test identifies cases associated with heterozygous loss of the SMN1 gene and point mutations that conventional screening (which only covers homozygous deletions) may miss.
• Eliminate false-positive results arising from hybrid genes and complex rearrangements in the locus.
• Achieve import substitution and efficiency. This domestically developed test system can replace imported reagents currently used for confirmatory testing by MLPA (multiplex ligation-dependent probe amplification) based on fragment analysis. This makes Russian diagnostics independent of foreign supplies and more accessible.
"The approach we propose involves simultaneous detection of the SMN1 exon 7 deletion and SMN2 copy number using digital PCR. Until recently, we lacked a test system capable of performing both analyses in a single reaction. Now that we have developed and patented this method, our partners can initiate production to make such diagnostics available to all newborns across the country," — shared Alexey Sleptsov, Candidate of Medical Sciences, Research Scientist at the Research Institute of Medical Genetics, Tomsk NRMC.
"Integrating this test system into neonatal screening would not merely confirm the diagnosis but would effectively provide the complete genetic profile required for immediate initiation of pathogenetic therapy," — added Nikolay Skryabin, Candidate of Medical Sciences, Head of the Orphan Diseases Genomics Laboratory at the Research Institute of Medical Genetics, Tomsk NRMC.
- Patent for invention RU 2838673