Latest Mutation Stories
Tiny, transient loops of genetic material, detected and studied by the hundreds for the first time at Brown University, are providing new insights into how the body transcribes DNA and splices (or missplices) those transcripts into the instructions needed for making proteins.
The first U.S. population prevalence study of mutations in the gene that causes fragile X syndrome, the most common inherited form of intellectual disability, suggests the mutation in the gene – and its associated health risks – may be more common than previously believed.
A game-changing find challenges previously held beliefs about the role of mutations in cancer development. Researchers at the Fred Hutchinson Cancer Research Center in Seattle say their findings show that the number of new mutations is significantly lower in cancers than in normal cells.
In exploring the genetics of mitochondria – the powerhouse of the cell – researchers at Fred Hutchinson Cancer Research Center have stumbled upon a finding that challenges previously held beliefs about the role of mutations in cancer development.
A rare disease which often first presents in newborn babies has been traced to a novel genetic defect, scientists at Queen Mary, University of London have found.
A gene previously linked to too much growth in patients has now also been linked to growth restriction.
Malformed desmin proteins aggregate with intact proteins of the same kind, thereby triggering skeletal and cardiac muscle diseases, the desminopathies.
A large survey of human genetic variation, published today in the online version of the journal Science, shows that rare genetic variants are not so rare after all and offers insights into human diseases.
What can a fish tell us about human brain development?
In a study published today in Nature, researchers describe nine new genes that drive the development of breast cancer.
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