People with mutations in the gene coding for tumor protein p73 (TP73) are at higher risk of developing amyotrophic lateral sclerosis (ALS), researchers report. Their study, “Loss of TP73 function contributes to amyotrophic lateral sclerosis pathogenesis,” was published online in bioRxiv. There’s no doubt that some genes…
About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…
As I travel down life’s highway with ALS, I’m always on alert for speed bumps. These are the metaphorical unknowns that pop up to challenge my resilience and positive mindset. Last week, one too many speed bumps came my way. It almost felt like a daily battle.
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…
A gene therapy candidate targeting a key amyotrophic lateral sclerosis (ALS) mutation in the C9orf72 gene is able to lower the accumulation of toxic RNA clumps and reduce the activity of this mutated gene, in cells collected from a patient with frontotemporal dementia (FTD) and in a…
High LDL cholesterol levels, also known as “bad cholesterol,” may contribute to the development of amyotrophic lateral sclerosis (ALS), researchers report. Their study, “Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis” was published in Annals of Neurology. Several lifestyle and other factors are thought to…
“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…
The ALS Association’s new #VoiceYourLove awareness campaign is getting a boost from celebrities and the TRON Foundation, a leading blockchain protocol. The initiative seeks to honor ALS patients who have lost the ability to speak, with the ultimate goal of discovering new therapies and a cure for…
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…
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