Global Rare Disease Group’s Focus: 1,000 New Therapies by 2027, Despite COVID-19

Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…

After my husband, Todd, was diagnosed with ALS, we battened down the hatches to prepare for the coming storm. We moved to be near family in the Keweenaw Peninsula, a sliver of land that stretches into Lake Superior. The big lake is an apt metaphor for life with ALS.

A molecule that prevents cell death was able to prevent and reverse clumping of a mutant form of the protein superoxide dismutase 1 (SOD1) — the underlying cause of some familial amyotrophic lateral sclerosis (ALS) cases.  …

Muscle cell activity helps to promote motor nerve cell repair after injury, scientists found in using a device to model motor neuron and muscle cell interaction. They believe this finding could be relevant to diseases like amyotrophic lateral sclerosis (ALS) that imperil motor neuron survival. The device was described…

Amyotrophic lateral sclerosis (ALS) patients with mild to moderate disease progression show an ability to drive that’s comparable to other adults, despite weaknesses with movement and cognition, a small study using a driving simulator suggests. The study included only patients who were still driving, and its researchers caution that…

Eight patients will receive jacifusen, an experimental therapy for amyotrophic lateral sclerosis (ALS) caused by FUS gene mutations, under a joint effort from the ALS Association, Project ALS, and Columbia University’s Eleanor and Lou Gehrig ALS Center. The new clinical research program, which will be supported…

Studies in animal models investigating mitochondrial abnormalities in amyotrophic lateral sclerosis (ALS) found that therapies targeting mitochondria — the powerhouses of cells — are consistently effective in prolonging survival, a review concluded. The review study, “Targeting…

My 14-year-old daughter woke me up at 4:45 a.m. “Do you hear that?” “Hear what?” I asked groggily. “You don’t hear anything?” Panic rose in Sara’s voice. “No.” I sat up. “You don’t hear that?” she said, just after I too heard a high-pitched chirp. “Yes,” I said. “It sounds…

Like many couples, Joe and Linda Lacroix of Milton, Vermont, spent much of their lives working, raising families, maintaining their home, and planning for the future. Unlike most, however, there was always a dark cloud looming on their horizon — a gene for Huntington’s disease carried by Joe’s mother.

“Baby, you can drive my car …” I was reminded of that Beatles lyric last Sunday while listening to my pastor’s sermon. Titled, “Taking the Back Seat,” the sermon’s theme was about subordinating our desire for control in favor of…