A new tool has been developed by Canon BioMedical that aims to improve the assessment of a devastating disease, spinal muscular atrophy (SMA), and may help create better therapeutics. SMA is an inherited disorder that can make it difficult for children to move; nerve cells waste away, leading to muscle loss. Defects in a gene called SMN1 lead to the illness, which has many varying degrees of severity.
Another gene, SMN2, can have a big impact on how serious the disease becomes in individuals. People that carry mutations in the SMN1 gene often have several copies of the SMN2 gene, which can make up for the loss of function caused by a defective SMN1 gene. Some affected individuals carry four normal copies of SMN2, making their conditions less serious. Determining copy number is thus an essential part of understanding individual cases.
Usually, it takes special equipment and expensive reagents to assess copy number variation in the SMN1 and SMN2 genes. Testing conditions are also not conducive to studying a large number of samples. A method created by Canon Biomedical meets these challenges. Their simple technique, based on PCR, only requires a thermocycler that can perform high-resolution melting (HRM) in replicates. These Novallele copy number assays have been tested for use on a variety of instruments with various methods of DNA extraction, and have streamlined the whole process. It can take as little as one hour to complete it.
‘‘Our research and development team worked really hard to make sure our new copy number assays perform consistently and reliably for our customers. This isn’t an easy analysis to perform, but we developed a solution that is simple, fast, and accurate,” said Dennis Snyder, Senior Director of Global Commercial Operations for Canon BioMedical. ‘‘We hope our copy number assays for the SMN1 and SMN2 genes will help researchers understand spinal muscular atrophy and advance treatment for this terrible disease.’’
In the video above, Dr. Charlotte Sumner of Johns Hopkins University explains how the SMN2 copy number affects SMA.