Patients with amyotrophic lateral sclerosis (ALS) show higher rates of sleep apnea that is often accompanied by nocturnal hypoventilation, according to a retrospective study. Researchers also found that a method called transcutaneous capnography is able to reliably detect nocturnal hypoventilation, or insufficient breathing, in ALS patients. The…
For a man whose passion involved solving the mysteries of the universe, Stephen Hawking remained a mystery to many. First and foremost he was a British physicist, earning accolades and respect for his many contributions to science. Secondly, as a person living with ALS, his fame came…
After eight years of research, scientists have finally discovered how TDP-43 and hnRNP A1 — two proteins that have been linked to amyotrophic lateral sclerosis (ALS) — work together to promote the disease. TDP-43 was found to bind to the hnRNP A1 RNA sequence and promote production of a…
Difficulty sharing vast amounts of information — the so-called big data — can slow the pace of scientific advancement, experts say. A University of Washington team has come up with a way to help neuroscience researchers share huge swaths of MRI information about ALS and similar disorders. The information deals…
The interaction between an RNA molecule and a protein is essential for the growth of axons, the portion of movement nerve cells responsible for communicating with other nerve cells, a study reports. Researchers identified the RNA molecule as 7SK and the protein as hnRNP R. The study, “hnRNP R and its…
Three organizations that are fighting neurodegenerative disorders have teamed up to challenge researchers around the world to come up with new treatment approaches. The ALS Association, the Huntington’s Disease Society of America (HDSA) and Teva Pharmaceuticals have started the crowdsourcing effort, known as the Teva CNS Target Identification…
This 2014 Roundabout U video is all about Todd Walker from Murray, Kentucky. Todd shares his ALS story, which began when he was suddenly unable to exercise like usual. At first, doctors thought Todd was suffering from depression as he had just lost his father but as his symptoms began…
Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…
When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…
Early this morning, Stephen Hawking passed away at the age of 76. While 76 doesn’t seem all that impressive with many living past 100 in this day and age — for Hawking, it was simply remarkable. Stephen Hawking was born on Jan. 8, 1942 in Oxford, England. He grew up…
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