News

Blocking an enzyme called PIP4Ky has the ability to reduce levels of mutant huntingtin protein and clear toxic aggregates of the protein, suggesting a potentially effective therapeutic strategy against Huntington’s disease, according to a study. The study, “Inhibition of PIP4Kγ ameliorates the pathological effects of mutant huntingtin…

Cannabinoids can help to treat motor symptoms like dystonia in patients with early-onset Huntington’s disease, a small case study reports. The study, “Cannabinoids for Treatment of Dystonia in Huntington’s Disease,” appeared in the Journal of Huntington’s Disease. Huntington’s disease is characterized by movement disorders, cognitive deterioration,…

Three organizations fighting neurodegenerative diseases have teamed up to challenge researchers around the world to come up with new treatment approaches for central nervous system (CNS) disorders. The Huntington’s Disease Society of America (HDSA), the ALS Association, and Teva Pharmaceuticals have launched the crowdsourcing effort, called the …

A modified version of the genome-editing CRISPR-Cas9 system may prevent the production of faulty huntingtin protein, moving closer to treatment for Huntington’s disease. The study, “Precise Excision of the CAG Tract from the Huntingtin Gene by Cas9 Nickases,” was published at Frontiers in Neuroscience. The new…

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,…

Following a strict diet schedule helped clear away the protein responsible for Huntington’s disease in mice, according to researchers in Canada. The study, “Preventing mutant huntingtin proteolysis and intermittent fasting promote autophagy in models of Huntington disease,” was published in the journal Acta Neuropathologica Communications. The buildup of mutant huntingtin…

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…

MMJ BioScience received a licence from Health Canada to develop cannabis-derived products based on proprietary formulations for the treatment of Huntington’s disease and multiple sclerosis (MS). The license will enable MMJ to extract active pharmaceutical ingredients from the cannabis plant to manufacture gelcap medications and supply pharmaceutical-grade medicines for…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…