A high genetic risk for amyotrophic lateral sclerosis (ALS), assessed using so-called polygenic risk scores, was linked in a study to poorer performances on verbal and numerical tests in otherwise healthy adults, but not to physical disabilities. The study, “Genetic risk for neurodegenerative disorders, and its overlap with cognitive…
A new portable system provides insights into the altered tongue, lip, and jaw motion in amyotrohic lateral sclerosis (ALS) patients with a speech disorder called dysarthria. The instrument could be valuable for both diagnosis and treatment of speech impairment. The study, “Articulatory Range of Movement…
As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…
Lower-than-usual levels of a molecule called miR126-5p — a type of microRNA, with a role in producing proteins — led to neuron degeneration and disease progression in a mouse model of amyotrophic lateral sclerosis (ALS), in part by working to raise levels of toxic molecules, a study reports. Its researchers…
Two enzymes called USP5 and USP13 were found to have an important role in fighting back against toxic “stress granules,” a study reports. The study, titled “Deubiquitylases USP5 and USP13 are recruited to and regulate heat-induced stress granules through their deubiquitylating activities,” and published in the …
An experimental oral formulation of edavorone for amyotrophic lateral sclerosis (ALS), called TW001, demonstrated promising pharmacological and safety data in a Phase 1 clinical trial, according to the biotech Treeway. The randomized trial compared TW001 to Radicava (Mitsubishi Tanabe Pharma America), an intravenous medication approved…
AB Science has decided not to seek the re-examination it initially requested after the European Medicines Agency (EMA) issued a negative opinion on marketing authorization for masitinib, the company’s investigational amyotrophic lateral sclerosis (ALS) therapy. The company announced in a press release that the re-examination procedure…
Should scientists have the right to edit the genes of future generations to eliminate hundreds, if not thousands, of potential rare diseases? Or should researchers restrict their use of genome editing to somatic cells, so that they don’t pass changes on to the next generation? What about stem-cell research, three-parent…
Researchers discovered that a small region of ataxin-2 — a protein known to be involved in amyotrophic lateral sclerosis (ALS) — is crucial for both long-term memory and the formation of toxic aggregates that lead to neurodegeneration. The study with that finding, “RNP-Granule Assembly via Ataxin-2 Disordered…
Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…
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