News

Isis Pharmaceuticals, Inc. a leading company in RNA-targeted drug discovery and development, recently announced they will initiate a new Phase I/IIa clinical trial of ISIS_HTTRx for the treatment of Huntington’s disease (HD). Roche will give Isis a milestone payment of $22 million for the initiation of the trial. The placebo-controlled,…

Fingolimod, a drug often prescribed to patients with Multiple Sclerosis (MS), has found a new application to treat patients with cognitive impairment in Huntington’s Disease. These were the conclusions of a group of researchers at the University of Barcelona (UB) and the August Pi i Sunyer Biomedical Research Institute (IDIBAPS), who studied…

The Huntington’s Disease Society of America has selected Dr. Neil Aronin, a professor of medicine, to be this year’s recipient of its prestigious Research Award in recognition of his transformative contributions to what is now known about Huntington’s disease, a rare, inherited neurodegenerative condition. Dr. Aronin is currently the chief of…

Researchers from the Scripps Research Institute identified the protein Rhes as a crucial player in neuronal death in the striatum, the brain region responsible for motor and cognitive functions. The study entitled “Ectopic expression of the striatal-enriched GTPase Rhes elicits cerebellar degeneration and an ataxia phenotype in Huntington’s…

A new study recently published in the journal Molecular Psychiatry revealed a new cellular property distinctive of Huntington’s disease pathogenesis. The study is entitled “Huntington’s disease cerebrospinal fluid seeds aggregation of mutant huntingtin” and was conducted by researchers at the University of California-Irvine,…

Courtagen Life Sciences, Inc., released several new Next Generation Sequencing tests designed to evaluate people with epilepsy and mitochondrial disease. Mitochondrial diseases are inherited or chronic illness. They can occur either at birth or may develop later, and include problems with development and cognition. They may cause poor growth, lack of coordination, weakness, pain and seizures.

Results from a recent study published in the journal Cell provide a new potential therapeutic avenue for preventing the transgenerational transmission of human mitochondrial diseases caused by mutations in mtDNA, the DNA located in the mitochondria. Mitochondria are double-membrane cellular organelles of bacterial origin that play…

Mitochondrial disorders are complex conditions for which few treatments are available. Now, using microscopic worms, researchers at The Children’s Hospital of Philadelphia (CHOP), are researching if existing human drugs aimed at improving metabolism and restore shortened lifespans, can open the opportunity for human clinical trials on innovative therapies for these…

In a new study entitled “Mutation in MRPS34 Compromises Protein Synthesis and Causes Mitochondrial Dysfunction,” researchers discovered a mutation in a mitochondrial ribosome that induces mitochondria dysfunction leading to heart hypertrophy and liver steatosis in mice. The study was published in the journal PLOS…

In a new study entitled “Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy,” authors report to have identified in two patients with isolated myopathy (a muscular disease characterized by deficient muscle fibers resulting in muscular weakness) two novel variants in the mitochondria DNA, specifically in…