Tag: <span>Genetic mutation</span>

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Major advance enables study of genetic mutations in any tissue

WELLCOME TRUST SANGER INSTITUTE For the first time, scientists are able to study changes in the DNA of any human tissue, following the resolution of long-standing technical challenges by scientists at the Wellcome Sanger Institute. The new method, called nanorate sequencing (NanoSeq), makes it possible to study how genetic changes occur in human tissues with...

Study identifies genetic mutation associated with autism, offering hope for effective therapeutics
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Study identifies genetic mutation associated with autism, offering hope for effective therapeutics

by  Hebrew University of Jerusalem Credit: CC0 Public Domain Recent years have provided substantial research displaying the effect of genetic mutations on the development of autism and other neurodevelopmental disorders. Based on those studies, researchers have focused attention on the commonalities behind those mutations and how they impact on the functioning of the brain. A study conducted by Professor Sagiv...

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New study explains why genetic mutations cause disease in some people but not in others

Researchers at the New York Genome Center (NYGC) and Columbia University have uncovered a molecular mechanism behind one of biology’s long-standing mysteries: why individuals carrying identical gene mutations for a disease end up having varying severity or symptoms of the disease. In this widely acknowledged but not well-understood phenomenon, called variable penetrance, the severity of the...

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Genetic mutation helps Amish families fight aging, diabetes and even baldness

Scientists have discovered a genetic mutation in an Amish community that lets them live longer and protects them from diabetes and other age-related illnesses   Scientists at Northwestern University have discovered a genetic mutation in an isolated Amish population that helps them live longer and healthier lives, and protects them from diabetes and other age-related...

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