Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…
NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research
Loss of normal ion flow in the skeletal muscle may worsen symptoms of amyotrophic lateral sclerosis (ALS), a mouse study shows. Researchers have identified several targets that rescue iron flow, namely chloride, in skeletal muscle, highlighting their potential in developing new therapies. The study, “Elucidating the Contribution of Skeletal…
Professional soccer players may be at higher risk of developing amyotrophic lateral sclerosis (ALS) compared to the general population. The preliminary findings will be presented at the 2019 American Academy of Neurology’s (AAN) 71st Annual Meeting, May 4-10 in Philadelphia. According to the study’s data, professional players are twice…
Amyotrophic lateral sclerosis (ALS) patients with higher levels of organic pollutants in their blood have reduced survival rates, according to a study conducted in Michigan. The study, “High plasma concentrations of organic pollutants negatively impact survival in amyotrophic lateral sclerosis,” was published in the Journal…
A modified experimental version of the TDP-43 protein has revealed the underlying mechanisms that support its accumulation and the formation of toxic aggregates implicated in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), a study reports. A detailed understanding of TDP-43-mediated neurotoxicity may help researchers find new targeted…
Columns
When ALS Cuts In on the Dance
“If we’re treading on thin ice, then we might as well dance.” That is a line from a song, “Do It,” on Jesse Winchester’s second album, “Third Down, 110 to Go.” The album’s title depicts an impossible situation. The referenced lyric prescribes a nonchalant, if not joyful,…
Loss of a protein known as ubiquilin causes defects in degradation centers called lysosomes, promoting the buildup of brain waste in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, a fruit fly study has found. The study, “Ubiquilins regulate autophagic flux through mTOR signalling and lysosomal acidification,” was published in…
They’re boring, slow, and only for old people! That’s what I told my husband when he first suggested that I consider using a mobility scooter. Like so many who live with ALS symptoms, weak muscles in my lower legs limit my mobility. At home, I rely…
Smoking is associated with a greater risk of developing amyotrophic lateral sclerosis (ALS), according to a new study. The research, “Smoking and Amyotrophic Lateral Sclerosis: A Mendelian Randomization Study,” appeared in the journal Annals of Neurology. Cigarette smoking has been proposed as a risk…
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…
Recent Posts
- Feeding wildlife reminded me what’s important in life after ALS
- Inflammatory bacterial sugar in gut may drive ALS risk: Study
- A dream takes me back to a time before life with ALS
- ALS ONE joining ALS Network to strengthen research, services
- Rollator revamp needed because design matters for living well with ALS