Scientists have identified mutations in the CPD gene as a key cause of a rare congenital hearing loss, revealing how disruptions in arginine and nitric oxide signaling damage sensory cells in the ear.
The U.S. Food and Drug Administration (FDA) has approved Revuforj (revumenib), which is a menin inhibitor, for the treatment ...
Fibromyalgia, which causes chronic pain all over the body, is poorly understood, but two studies – made up of millions of ...
Bent bone dysplasia (BBD) is a perinatal-lethal skeletal disorder caused by pathogenic FGFR2 mutations that disrupt bone ...
New research reveals that one in 50 sperm samples from healthy men in their early 30s carries disease-causing mutations.
Autoimmune neuromuscular diseases may sound complex, but understanding them is the first step to getting the right care and ...
The compelling clinical activity, durable response and acceptable tolerability profile seen with elironrasib underscore the potential of this differentiated RAS (ON) G12C-selective inhibitor, ...
When six infants around the world were diagnosed with an odd trio of symptoms (diabetes, epilepsy, and abnormally small heads ...
Scientists from the UF Health Cancer Center have made a surprising discovery about why people may develop conditions like ...
An international team led by Monash University researchers has uncovered the genetic code governing the way genetic mutations affect mRNA and result in disease.
Once a sperm has broken through to an egg cell in order to fertilize it, the two cells need to hold together tightly. This ...
Mitochondria are incredible organelles. They not only provide crucial power to our cells, these little machines also have ...
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