News

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

The biopharmaceutical company Cytokinetics and the nonprofit organization Cure SMA have announced a renewal of their partnership. The partnership aims to increase education and awareness for spinal muscular atrophy (SMA), as well as to promote public policy and fundraising efforts that support people who are living with…

Although damage to motor neurons characterizes spinal muscular atrophy, problems with lipid (fat) metabolism are an important feature of SMA that should be addressed to minimize the risk of heart and liver disease related to high levels of fatty molecules in people with the disorder, a study found. Complications due to poor …

A new and faster genetic test for spinal muscular atrophy (SMA), called SMA STAT, will be offered free of charge in the U.S. as part of the SMA Identified program. According to Biogen and Invitae Corporation, SMA STAT reduces the time for a definitive SMA diagnosis — through…

An alternative form of intrathecal (via the spinal canal) injection, called a transforaminal puncture, is a safe and effective way of delivering Spinraza (nusinersen) to spinal muscular atrophy patients whose scoliosis makes standard spinal injections difficult, according to real-world data from the Phoenix Children’s Hospital. The study, “The Complex…

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…

Online forums have markedly altered how patients, caregivers, and healthcare professionals communicate and connect. Even when miles apart, individuals can establish supportive relationships, share experiences and information, and sometimes just vent. Bionews Services, a leading online health, science, and research publication company, has been rolling out its…

The Wisconsin State Laboratory of Hygiene is using Quantabio‘s technology to improve newborn screening of spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID). The laboratory is developing a faster, easier and cost-effective way to simultaneously screen for both conditions. The test also can be used to…

Doctors have begun administering Biogen’s spinal muscular atrophy (SMA) therapy Spinraza (nusinersen) in Russia for the first time, the head of the country’s SMA patient organization reports. Forty children with the worst form of the disease — type 1 — began receiving the treatment in July under Biogen’s…

Need for ventilation support is common among children with spinal muscular atrophy (SMA), and those who are older and with more abnormal breathing seem to be at greater risk, an Australian study suggests. Researchers have now defined a range of values for breathing function that may tell which…