Marisa Wexler, MS, senior science writer —

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

Toxic clumps due to the buildup of the TDP-43 protein can trigger the neuronal inflammation that precedes symptoms of amyotrophic lateral sclerosis (ALS) by activating an inflammatory signaling pathway called cGAS-STING, a study reported. Its findings suggest that targeting this inflammatory signaling may be an effective way of treating ALS.

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

A $2 million grant from the National Institutes of Health (NIH) is funding work to better understand how molecular structures called protein-RNA condensates form and are regulated within cells. Findings from the five-year project could help in understanding and treating diseases where these molecular structures play a role, including…

An impairment in the activity of the RNA exosome complex, which cells use to degrade defective RNA molecules, could contribute to amyotrophic lateral sclerosis (ALS) caused by mutations in the C9orf72 gene, a new study indicates. The study, “The RNA exosome complex degrades expanded hexanucleotide…

Newly developed compounds derived from ebselen could be used to treat some types of amyotrophic lateral sclerosis (ALS), a recent study suggests. The study, “Novel Selenium-based compounds with therapeutic potential for SOD1-linked amyotrophic lateral sclerosis,” was published in EBioMedicine. About a fifth of familial…

Mutations in the gene C9orf72, a common genetic cause of amyotrophic lateral sclerosis (ALS), cause immune cells to have an abnormally potent inflammatory response when certain receptors are are activated, a new study suggests. The findings could explain why people with ALS are more likely to develop some autoimmune…

The European Commission has granted orphan drug designation to ILB, Tikomed‘s investigational treatment for amyotrophic lateral sclerosis (ALS). In the EU, this designation is based on a positive opinion issued by the Committee for Orphan Medicinal Products (COMP), a part of the European…

Measurements taken of muscle using ultrasound could be useful in diagnosing or managing amyotrophic lateral sclerosis (ALS), a small study suggests. The study, “Application of Muscle Ultrasound for the evaluation of Patients with Amyotrophic Lateral Sclerosis: An observational Cross‐Sectional Study,” was published in Muscle & Nerve.

Bereaved caregivers of people with motor neurone disease (MND) are at increased risk of prolonged grief disorder compared to the general bereaved population, a new study suggests. This indicates a need for greater support for bereaved caregivers of people with MND. The study, “Grief, depression, and anxiety…