Columns

Unusual mutations in the SMN1 gene, the underlying cause of spinal muscular atrophy (SMA), were detected in two young patients using ultra-long read sequencing (ultra-LRS), a method to analyze large segments of DNA. “Our study highlights the importance of ultra-LRS in the clinical application of SMA,” the researchers…

While living with SMA, I’ve been on the receiving end of many people’s misconceptions about the disease. To an extent, I understand their lack of awareness; there are many diseases and conditions that I don’t know about, either. But there’s a fine line between not understanding the complexities…

Akron Children’s Hospital in Ohio has been awarded $1.3 million to optimize palliative care practices for children living with chronic diseases such as spinal muscular atrophy (SMA). The funding comes from the National Institute of Nursing Research (NINR), part of the U.S. National Institutes of Health (NIH). Palliative…

Our spring break kicked off on April 6 with an early release for students. I fell into the lengthy car line at 11:30 a.m. to pick up our grandkids, Clara, a first grader, and James, who’s in pre-K. Both had been giddily counting down to this time…

Children and adolescents in New Zealand with spinal muscular atrophy (SMA) will be able to access Evrysdi (risdiplan) through the country’s publicly funded healthcare system, starting in May. The decision by New Zealand’s Pharmaceutical Management Agency, known as Pharmac, means eligible patients will now have access to…

CANbridge Pharmaceuticals is planning to ask the U.S. Food and Drug Administration for permission to launch, by the end of 2024, clinical trials of its second-generation gene therapy candidate for spinal muscular atrophy (SMA). That request — for clearance for first-in-human studies — will come in the…

There’s an old adage that says March comes in like a lion, but where I’m from, it comes in more like a tease. In New England, March is still cold and snowy, and it seems to drag on for much longer than 31 days. But as soon as the…

A young boy and three of his relatives were found to carry a new mutation that was the likely cause of their spinal muscular atrophy with lower extremity predominance, known as SMA-LED, according to a report from China. Researchers mapped the mutation to the DYNC1H1 gene, which has…

Regular readers of my column may know that I love Taylor Swift. I’ve written multiple columns explaining how her songwriting has given me solace. I still buy physical copies of her albums (even though my laptop has no CD drive), and I’ve attended her concerts each time she’s visited…

A single gene-editing treatment that converts the SMN2 gene into a functioning copy of SMN1 increased levels of the SMN protein that is lacking in spinal muscular atrophy (SMA), bringing better motor function to a mouse model of the disease, a study reported. Combined with Spinraza (nusinersen),…