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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…

Ionis Pharmaceuticals‘ experimental therapy IONIS-HTTRx significantly reduced levels of the protein responsible for Huntington’s disease (HD) in early stage patients, according to top-line results from a Phase 1/2 clinical trial. The data, presented at the 13th Annual HD Therapeutics Conference in Palm Springs, California, confirm IONIS-HTTRx…

The Huntington’s Disease Society of America (HDSA) recently announced that 43 Huntington’s disease (HD) care facilities are now designated as HDSA Centers of Excellence for 2018 — up from 41 centers last year. HDSA started with only 20 Centers of Excellence across the United States in 2015,…

Blocking specific glutamate receptors was seen to improve cellular, motor, and cognitive skills in a mouse model of Huntington’s disease. The study, “mGluR5 antagonism increases autophagy and prevents disease progression in the zQ175 mouse model of Huntington’s disease,” appeared in the journal Science Signaling. Glutamate is the main excitatory neurotransmitter…