A new study from deCODE genetics uses pedigrees and sequence data from 64,806 Icelanders to shed light on the rate and nature of mutations in mitochondrial DNA (mtDNA) and the peculiar dynamics of its ...

Inherited diseases of metabolism and immunity have more in common than previously recognized, according to a new study. The findings point to a new set of metabolic genes that are important for the ...

A significant overlap has been identified in the functionalities of genes associated with immune and metabolic disorders, suggesting a fundamental frameshift is needed in our understanding of the two.

Early administration of the drug Fosdenopterin/rcPMP improves the chances of survival of infants with MoCD type A and promotes the development of brain functions. The drug fosdenopterin/rcPMP ...

Screening covers tests for 30 inherited metabolic disorders, spinal muscular atrophy and severe combined immune deficiency More private hospitals in Hong Kong are expected to join the government's ...

A toddler is thriving after doctors in the U.S. and Canada used a novel technique to treat her before she was born for a rare genetic disease that caused the deaths of two of her sisters. Using a ...