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From Complexity to Accessibility: Transforming SMA Diagnosis with MLPA-NGS Technology

NextEdge Admin

19 Nov 2023

2 min 55 sec

In the pursuit of enhancing diagnostic capabilities, particularly in diverse populations such as India, researchers are concentrating on unraveling the complexities of genetic diseases, with a specific focus on spinal muscular atrophy (SMA), a condition impacting motor neurons and associated with survival motor neuron genes (SMN1 and SMN2), variations of these lead to motor neuron degeneration.

Conventional diagnostic methods have limitations, prompting Indian scientists at the Tata Institute for Genetic Society (TIGS) to pioneer a groundbreaking approach. They are integrating Multiplex Ligation-Dependent Probe Amplification (MLPA) with Next Generation Sequencing (NGS). MLPA facilitates the identification of genetic variations, while NGS enhances cost-effectiveness and suitability for population wide screening and carrier detection.

The TIGS researchers are actively developing a diagnostic kit for SMA, commencing with the detection of gene conversions in SMN1 and SMN2. This novel MLPA-NGS assay is designed to identify responsible single nucleotide polymorphisms (SNPs) for gene conversion and determine the presence or absence of specific exons in SMN1/2, ensuring a comprehensive diagnosis.

For individuals without a scientific background, the significance lies in the creation of a revolutionary diagnostic tool for SMA. Analogous to a high-tech detective tool, it promises easier and more accurate detection of specific genetic variations, enhancing the understanding and diagnosis of SMA. The inclusion of probes in the assay, specifically targeting deletions in exon 7/8 of the SMN1 gene, addresses a significant factor in over 95% of SMA cases.

As researchers validate their approach through various methods and develop user-friendly tools like digital PCR, they are paving the way for a future where genetic diagnoses are not only more precise but also accessible to a broader population. Beyond SMA, this endeavor contributes to unraveling broader genetic mysteries, bringing us closer to a healthier and more informed future.