News

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

An inability to correctly identify face-like objects and fewer brain signals associated with facial recognition were found in people with Huntington’s disease who had yet to show symptoms, suggesting these tests can be a marker of early disease progression, a study reports. …

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

Researchers have identified three new small molecules that significantly reduce the formation of toxic aggregates of mutant huntingtin — the underlying cause of Huntington’s disease — in cells derived from Huntington’s patients. These molecules work by selectively and potently binding to the expanded CAG repeats in an intermediate molecule…

MMJ International Holdings, a pharmaceutical company focused on the development of cannabis-based therapeutic products, will soon begin testing its oral cannabidiol (CBD) and tetrahydrocannabinol (THC) products in U.S. clinical trials for Huntington’s disease and multiple sclerosis. The U.S. Drug Enforcement Administration (DEA) cleared MMJ to import…

Researchers have developed a new class of compounds that tackles the root cause of Huntington’s disease, opening up new avenues for the development of novel therapies for the disease. The compounds can lower the levels of mutant huntingtin — the faulty protein in Huntington’s disease — by sending it…

The mini pig model of Huntington’s disease not only has a similar brain anatomy to humans, but also shows the slow and age-dependent neurodegeneration and weight loss that’s characteristic of the disease, according to a recent study. These features make it an advantageous model to use in preclinical studies…

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

Q-Motor, a promising motor-assessment tool for adults with Huntington’s disease, also provides non-invasive, easy, and sensitive measures to gauge motor function changes in children and adolescents, a study shows. The data highlights Q-Motor’s potential to detect subtle motor changes associated with Huntington’s disease in at-risk youth. The study, “…

Stem cells created from cells taken from juvenile Huntington’s disease (JHD) patients showed a delay in developing into mature neurons, but one that is reversible, a study reports.  The study, “Characterization of Neurodevelopmental Abnormalities in iPSC-Derived Striatal…