A new fruit fly model of Leigh syndrome reveals the importance of mtDNA variation. Inherited mitochondrial disorders pose a perplexing problem to researchers and clinicians:...


The “hyperspin” long-range enhancer deletion recapitulates disease phenotypes. In recent years, improvements in genetic testing have made it much easier to discover the causes of...


Rhinocladiella mackenziei is a fungus that infects the human brain. It is the most common cause of neurological fungal infections in arid regions of the...


The Genetics Society of America (GSA) is pleased to announce that Philip Hieter is the recipient of the 2018 George W. Beadle Award, bestowed in...


The prolonged and severe seizures suffered by those with pyridoxine-dependent epilepsy (PDE) can lead to brain dysfunction and death if not treated. Standard antiepileptic drugs...


For many of the roughly 300 million people around the world with rare diseases, the road to diagnosis can be long, painful, expensive, and disheartening....


A Canadian network focused on rare diseases is playing matchmaker between clinicians and model organism researchers. Over half of children with rare, inherited monogenic diseases...