The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…
A “new voice” for people who cannot verbally communicate, such as those living with amyotrophic lateral sclerosis (ALS) or recovering from stroke, is a step closer to becoming reality. Researchers from the Zuckerman Institute at Columbia University have developed a computer algorithm that can recognize a person’s thoughts as…
Just mention the term self-care in any conversation and you’ll soon have many different definitions. It can be medical, describing how patients with a chronic disease are taught to self-manage their illness. Or self-care can mean the pursuit of personal wellness and a healthy lifestyle. And we’ve all…
Yup, it’s that time of year again — lag time! We’re in that weird space in time that’s just after all the holiday hoopla and before the “next big thing” comes along. It’s a time to catch up, reflect, and take a well-earned breather. And for those of…
“Reports of my demise have been greatly exaggerated.” —Mark Twain, in a letter to The New York Sun I spent the better part of November under the weather. I am always taken aback by the “uncommon” havoc the “common” cold can wreak on someone with the deficit baseline…
The new year is just beginning, and my email inbox is already overflowing with suggestions about the importance of setting goals and resolutions. But for many living with ALS, traditional goals and resolutions for self-improvement can feel empty and useless. In truth, most of us are just…
When I look back at 2018, I feel pride. I fought my ALS hard. I forced myself to finish all my meals, even when I had zero appetite, to minimize weight loss. I made it to all my appointments, though I had to reschedule multiple times. I asked…
Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…
A new research project that will investigate the seemingly unrelated mechanisms between neurodegenerative diseases and infections has been awarded $2.5 million from the Chan Zuckerberg Initiative (CZI). The funding was awarded to Ivan Marazzi, PhD, assistant professor of microbiology at the Icahn School of Medicine at Mount Sinai in New…
It’s hard to live in the present when the past feels as close as my shadow. I can’t stop thinking about the things I have lost. I’m nearly immobile, so the things I miss most are physical. I miss my feet touching the ground. I miss the…
