Mar 21, 2024 - News

ISU's gene breakthrough key to advancing spinal muscular atrophy research

A photo of Ravindra Singh, a professor at Iowa State University.

Ravindra Singh led a research team that identified a gene breakthrough in the study of spinal muscular atrophy, an often-fatal disease that affects 1 in 10,000 newborns. Photo: Christopher Gannon, courtesy of ISU

Researchers at Iowa State University have created a short version of a gene used to study spinal muscular atrophy (SMA).

Why it matters: It'll facilitate quicker, cheaper and less fragmented research of the common genetic disorder in kids, the university's news service reports.

Catch up fast: SMA affects voluntary muscle movement.

  • A missing or mutated gene causes the disease and, in severe cases, leaves children with an average two-year lifespan.

Driving the news: ISU professor Ravindra Singh led an eight-year project to create the truncated version of the gene, with its results recently published in academic journal Nucleic Acids Research.

State of play: Isolated segments have been used in studies for decades but ISU's breakthrough — which Singh's team calls a "super minigene" — represents the entire gene.

  • Now scientists can make mutations and quickly see what happens everywhere in the gene sequence, Singh told ISU's news service.

The intrigue: His work was also instrumental in the first federally approved treatment for SMA.


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