Learn more about the gene linked to the evolutionary loss of human tails, and how, in rare cases, some people are still born ...

Modern humans are evolutionary survivors, thriving generation after generation while our ancient relatives died out. Now, new research into our brain chemistry suggests that an enzyme unique to Homo ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days and potentially eliminating the need for invasive ...

Research co-led by King's College London and Sidra Medicine, Qatar, has produced the most detailed map to date of large-scale ...

Electronic genome mapping (EGM) detects and validates structural variants in cancer genomes with improved accuracy over existing platforms, including optical mapping technologies PROVIDENCE, R.I., Oct ...

A new study published in Genetics in Medicine identifies a novel disease-associated gene, GPKOW, that plays an important role in the development of the brain, eyes and other organ systems. Researchers ...

A rare breed of hunting dogs known for its forked nose, the Turkish Pointer, might just help scientists better understand why human babies are sometimes born with facial clefts. In a recent study, ...

An HIV-derived nucleoside therapy now treats rare genetic diseases by restoring mitochondrial DNA and improving muscle ...

A new tool allows parents undergoing in vitro fertilization to screen their embryos for health issues, but is it ethical? Genetic disease is believed to be linked to 41 percent of U.S. infants' deaths ...