mutation

People who contract COVID-19 but never develop symptoms -- the so-called super dodgers -- may have a genetic ace up their sleeve. They're more than twice as likely as those who become symptomatic to carry a specific gene variation that…

A novel molecular pathway to explain how a mutation in the gene ACTA2 can cause individuals in their 30s -- with normal cholesterol levels and no other risk factors -- to develop coronary artery disease has been identified, according to…

The local poultry industry is on edge after the latest ‘H7’ highly pathogenic avian influenza (HPAI) outbreak in Mpumalanga was confirmed to have mutated from a bird flu strain unique to South Africa. The province bordering Mozambique…

Why do some people with a genetic mutation associated with leukemia remain healthy, while others with the same mutation develop the blood cancer? In a new study published in Blood, scientists from the USC Stem Cell laboratory of Rong Lu…

Mutations in genes that form the desmosome are the most common cause of the cardiac disease arrhythmogenic cardiomyopathy (ACM), which affects one in 2000 to 5000 people worldwide. Researchers from the group of Eva van Rooij now discovered…

A new UCLA-led study suggests that advanced genome editing technology could be used as a one-time treatment for the rare and deadly genetic disease CD3 delta severe combined immunodeficiency. The condition, also known as CD3 delta SCID, is…

Researchers from the group of Eva van Rooij in collaboration with the UMC Utrecht identified a new mutation that leads to the cardiac disease arrhythmogenic cardiomyopathy (ACM). They assessed the effect of this mutation on heart muscle…

A team of investigators from Massachusetts General Hospital (MGH), a founding member of Mass General Brigham (MGB) and Mass General for Children (MGfC) has identified -- for the first time -- the mutation in a single non-coding gene of a…

Covid-19 testing requirements for passengers travelling from China highlight mounting concerns about the potential for undetected new strains of the virus spawned by the country’s burgeoning outbreak. When the US imposed requirements for…

An international team of scientists led by Mass Eye and Ear, a member of Mass General Brigham, and Boston Children's Hospital, has discovered a new genetic mutation that may be a root cause of severe cases of childhood glaucoma, a…