Mutations in the C9ORF72 gene, the most common cause of amyotrophic lateral sclerosis (ALS), lead to changes in how cells process ribonucleic acid (RNA) and protein, a new study shows, shedding light on the mechanisms through which such mutations…
An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
Antibodies that target proteins wrongly expressed in the brain and driven by mutations in C9ORF72, a cause of amyotrophic lateral sclerosis (ALS), eased symptoms and prolonged survival in a mouse disease model, a new study shows. Its researchers suggest that such antibodies could be used to treat people with…
The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…
Sometimes you get lucky and life gives you a break, which is not always the norm for someone living with ALS. The past two weeks have been rather fun for me, thanks to a suggestion that I begin using a portable microphone. I have written about my challenges…
The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.
A month after my husband, Todd, was diagnosed with ALS, I wrote in my journal: “Squeezing in memories is bittersweet. Last weekend, we took Sara and Isaac to the beach. The sun sparkled off the water and Isaac pointed at the seagulls flying over Lake Michigan. I took pictures…
A new artificial intelligence (AI) algorithm can accurately predict the severity and progression of neurodegenerative diseases, such as Alzheimer’s and Huntington’s, by analyzing gene expression data from blood samples, researchers say. As the progression of these diseases is unique in every patient, this diagnostic algorithm has significant…
I thought my days of obsessively avoiding germs and examining poop would be over once my babies grew, but such is the circle of life now that my husband has ALS. When I was a brand-new mom, one of my biggest pet peeves was when strangers in a grocery store…
Kevin Schaefer hadn’t been in an airport since he was 4 years old, so he had been looking forward to flying from his home in Cary, North Carolina, to Anaheim, California, in June for the 2019 Cure SMA Conference. As it turned out, his experience didn’t go as expected.
