A Genetic Lottery
— Rebecca Field

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…

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…

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.

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…

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…

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,…

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…

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…

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…

Raptor Pharmaceuticals Inc. is looking to bring relief to a wide variety of young patients with inherited mitochondrial disease through its therapeutic called RP103 (cysteamine bitartrate delayed-release capsules). A Phase 2/3 clinical trial…

A collaboration between researchers from Leeds’ St. James’s University Hospital, University College London (UCL) and the Institute of Child Health (UCL) identified a gene mutation affecting mitochondrial calcium (Ca2+) levels in individuals with…