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Undergoing physical therapy nearly every day while on Spinraza (nusinersen) leads to significantly greater motor improvements than occasional sessions for children and adolescents with spinal muscular atrophy (SMA), a small study suggests. These benefits — detected in patients with types 1, 2, and 3 — were…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And…

Three years into my collaboration with biotech company Genentech, and I still feel like a fish out of water. This is what professionals call impostor syndrome (IS), defined by Lexico as “the persistent inability to believe that one’s success is deserved or has been legitimately achieved as…

Two children genetically diagnosed with spinal muscular atrophy (SMA) before birth and starting treatment with Spinraza (nusinersen) within the first days of life have shown normal motor development, including a girl who is now almost 6 years old, a study reports. The girl was likely to develop SMA…

A Phase 3 clinical trial evaluating Biohaven Pharmaceuticals’ taldefgrobep alfa as an add-on therapy in children and young adults with spinal muscular atrophy (SMA) has enrolled its first patient. The trial, dubbed RESILIENT (NCT05337553), expects to recruit up to 180 SMA patients already on disease-modifying therapies (DMTs),…

A single lyric keeps ringing in my head from Fletcher’s latest single, “Her Body Is Bible.” It goes, “Hold on tight, when the world gets hard, this s**t’s like paradise.” The song appears pretty straightforward at first blush. The lyrics and the imagery are simple, attempting to reclaim…

“You just gotta keep livin’, man. L-I-V-I-N.” Matthew McConaughey first delivered his iconic “Alright, alright, alright” catchphrase in the 1993 cult classic “Dazed and Confused.” Still, it’s his character’s other most quotable line in the film that is perhaps more poignant and philosophical. When McConaughey’s David Wooderson, the…

One day about 15 years ago, I was watching a funny show. It was lighthearted and entertaining, yet one comment made me think seriously. It still does. A person said, “I heard that computers were a fad!” Obviously, it was a joke. However, I thought to myself, “Where would I…

I’ve only seen snippets from the 1994 movie “Forrest Gump.” I know a couple of its famous lines, though: “Life is like a box of chocolates. You never know what you’re gonna get.” I love surprises, chocolate and otherwise! Usually. In the mid-1980s, my husband, Randy, and I…

I’m so glad (and relieved!) that you were privy to a hefty dose of angel intervention, especially with the arm! I must admit, I snickered reading about the dangling finger – only because I knew that it had all worked out unbelievably easily. Yep, your folks are treasures!!! But that…