Browsing Tag
mutation
Canadian researchers find new gene mutation that could be linked to increased breast cancer risk |…
A group of researchers led by a Canadian scientist have identified a rare gene mutation that could be associated with an increased risk of breast cancer.In a peer-reviewed study published on Monday in the American Journal of Human Genetics,…
Why does a leukemic mutation not always lead to leukemia?
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…
From mutation to arrhythmia: Desmosomal protein breakdown as an underlying mechanism of cardiac…
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…
Study uses base editing to correct mutation that causes rare immune deficiency
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…
New mutation in the desmoplakin gene leads to arrhythmogenic cardiomyopathy
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…
Rare smooth muscle disorder traced to a single mutation in a non-coding gene
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…
New genetic mutation behind childhood glaucoma identified
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…
Gene mutation leading to autism found to overstimulate brain cells
Scientists looking to understand the fundamental brain mechanisms of autism spectrum disorder have found that a gene mutation known to be associated with the disorder causes an overstimulation of brain cells far greater than that seen in…
Unraveling the biology behind aggressive pediatric brain tumor reveals potential new treatment…
Researchers at the University of Michigan Rogel Cancer Center have identified a novel treatment approach to an aggressive type of pediatric brain cancer, using therapies already approved to treat cancer.
"Our findings have immediate…