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…
Small nerve injury may be the trigger for early manifestation or faster progression of amyotrophic lateral sclerosis (ALS) motor symptoms in the presence of disease-associated genetic contributing factors, a study with rats suggests. The study, “Mutant SOD1 prevents normal functional recovery through enhanced glial activation and loss…
Greater knowledge about clinical trials and the importance of genetic testing, as well as increased access to expert care, are key needs for people with neuromuscular disease, including those with amyotrophic lateral sclerosis (ALS), according to a large survey. The ONEVoice survey included 3,362 respondents, 2,430 of…
Researchers at Israel’s Ben-Gurion University (BGU) have developed an artificial intelligence (AI) platform that can help monitor and predict the course of amyotrophic lateral sclerosis (ALS). The tool was designed by Boaz Lerne, PhD, associate professor at BGU, and his colleagues, in order to help identify biomarkers associated with neurodegenerative…
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…
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