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Tapping into the cerebrospinal fluid (CSF) of patients with Huntington’s disease may give insights on disease onset, diminished functional ability and potential therapeutic agents for treatment. A recent study investigated whether huntingtin (HTT) protein could be detected in CSF, and the research team behind the investigation created an assay with…

The New York Blood Center (NYBC), one of the largest independent, community-based blood centers in the country, serving the more than 20 million people who live in the New York metropolitan area, recently announced it has partnered with the University of California Davis Health System to develop specialized lines of stem…

Researchers at the University of Pittsburgh and the Carnegie Mellon University recently reported the first non-invasive brain-imaging tool to visualize the brain’s basal ganglia regions, which are thought to be defective in some neurological disorders including Huntington’s disease. The study entitled “In vivo characterization of…

A groundbreaking research initiative on cell reprogramming for drug development against Huntington’s disease recently received $1.19 million worth of funding for the next 3 years, thanks to the Health Research Council to University of Auckland. Lead investigator and neuroscientist, Associate Professor Bronwen Connor, will attempt to better understand the disease, particularly…

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…

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 “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…

Researchers at The Children’s Hospital of Philadelphia (CHOP) headed by Marni J. Falk, M.D., director and attending physician in the Mitochondrial-Genetic Disease Clinic, focused on a group of respiratory enzymes (called respiratory chain RC enzymes), which are essential for the production of energy. When disrupted (due to mitochondrial defects and mutations…