Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term…
A magnetic resonance imaging (MRI) marker may facilitate amyotrophic lateral sclerosis (ALS) patients’ diagnosis and disease monitoring, a study finds. The study, “Is the Hypointensity in Motor Cortex the Hallmark of Amyotrophic Lateral Sclerosis?,” was published in the Canadian Journal of Neurological Sciences. ALS is a progressive neurological…
Occupational exposure to silica is linked to a significantly increased risk of amyotrophic lateral sclerosis (ALS), a population-based study suggests. The study “Multicentre, population-based, case-control study of particulates, combustion products and amyotrophic lateral sclerosis risk” was published in the Journal of Neurology, Neurosurgery, and Psychiatry. The cause of…
Stem cell therapy using a certain type of stem cell called human mesenchymal stromal cells (hMSCs) may have the potential to improve outcomes and prevent progression of familial amyotrophic lateral sclerosis (ALS), a mouse study suggests. Repeated administrations of these stem cells in the spinal cord prolonged the lifespan…
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…
Markers of oxidative stress, iron metabolism in the brain and nerve cell damage may accurately predict disability in patients with amyotrophic lateral sclerosis (ALS), according to new research. The study, “A ferroptosis-based panel of prognostic biomarkers for Amyotrophic Lateral Sclerosis,” appeared in the journal Scientific…
Examining the genetic risk for amyotrophic lateral sclerosis (ALS) may become a lot easier with a user-friendly tool called ALSgeneScanner, which is meant to be used by non-specialists such as health care professionals and patients. The method is able to analyze DNA sequencing data from patients and distinguish…
New genetic mutations in the coding sequence of the GLT8D1 enzyme have been identified and linked to inherited amyotrophic lateral sclerosis (ALS), a study reports. Researchers at the University of Sheffield in the U.K. and their collaborators found that these GLT8D1 gene variants prevented the normal functioning of the enzyme, which…
People affected by depression before being diagnosed with amyotrophic lateral sclerosis (ALS) have a higher risk of developing cognitive impairments at later stages of the disease, a study says. The findings of the study, “Depression and risk of cognitive dysfunctions in amyotrophic lateral sclerosis,” were…
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…
