Enhanced production of a protein called Vps4 was shown to delay the degenerative process in injured nerve cells, which may help researchers to better understand and treat nerve damage in neurodegenerative disorders such as Parkinson’s disease and amyotrophic lateral sclerosis (ALS), a study says. The findings were published…
“Brute Force and Ignorance” That is the title of a song, written by the late Irish bluesman Rory Gallagher. It also is a fair depiction of the human, knee-jerk reaction to a seemingly unsolvable problem, such as banging on the television to address erratic reception or kicking the…
Last week was an exciting one for me: The website I created went live. Working on this special project was an entirely new experience; it turned out to be a challenging one, but from beginning to end it gave me a sense of purpose and value. Why did…
Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…
Warning the reporter accompanying him not to take any pictures, veteran horticulturalist Michael Castleman punches an electronic code and unlocks the door to Room 209, nicknamed the “Mother Room.” Photography is indeed forbidden inside this living vault, which contains 20 phenotypes of cannabis plants thriving under the glare of 25…
G71.01 is, quite literally, code for Duchenne muscular dystrophy. Likewise, Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like Orphanet and the American Epilepsy Society define as including Dravet syndrome. All three designations are among some 70,000 others listed in the…
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…
