Unraveling Spinal Muscular Atrophy: Personalized Treatment through Novel Genetic Insights
This collaboration between the Netherlands SMA Center (UMC Utrecht) and MRC Holland aims to identify genetic biomarkers for spinal muscular atrophy (SMA). SMA is a neuromuscular disease that causes muscle weakness and can be life-threatening. By using advanced genetic technologies, our team aims to uncover the genetic factors that determine SMA severity and treatment response.
SMA affects up to 600 people in the Netherlands. Treatments for SMA have become available, but predicting the disease's progression and treatment effectiveness is still impossible. Our project aims to develop tools for doctors to predict the course of SMA and choose the best treatment for each patient. This can improve the quality of life for people with SMA and reduce the financial burden on our healthcare system.
To achieve these goals, we will use long-read sequencing for genetic analysis, enabling us to read very long stretches of DNA. This technology helps determine variants in SMA-associated genes and their genomic location. We aim to identify variants linked to disease severity and treatment outcomes. Combining long-read sequencing with scalable MLPA technology will enable us to extent these analyses to many patients.
We will obtain a detailed map of genetic differences in SMA patients, understand how these differences affect the disease, and identify genetic markers to predict disease progression and treatment response. These results are important for informed treatment decisions. This project could improve SMA patients' lives and advance understanding and treatment of similar diseases in the future.
