Autor: Clinical genetics

A test developed by researchers at the Garvan Institute of Medical Research has identified the genetic cause of inherited muscle disease in people who remained without answers after years, sometimes decades, of standard testing. It is the first test of…

More than 90% of children born with the rare bone marrow condition Shwachman-Diamond syndrome (SDS) survive beyond age 20. But fewer than 30% live beyond age 50. Long-term survival could improve if clinicians act on early signs of high risk, according …

More than 90% of children born with the rare bone marrow condition Shwachman-Diamond syndrome (SDS) survive beyond age 20. But fewer than 30% live beyond age 50. Long-term survival could improve if clinicians act on early signs of high risk, according …

Why do human brains vary in size and shape, and how did our brains expand over evolutionary time to give us our enhanced cognitive abilities? Researchers at the UNC Department of Genetics and the UNC Neuroscience Center have mapped functional «switches…

Why do human brains vary in size and shape, and how did our brains expand over evolutionary time to give us our enhanced cognitive abilities? Researchers at the UNC Department of Genetics and the UNC Neuroscience Center have mapped functional «switches…

Mount Sinai researchers have identified how APOE4, the strongest genetic risk factor for Alzheimer’s disease, damages the brain’s blood vessels and promotes the buildup of abnormal proteins linked to neurodegenerative disease. Published in Cell and Cel…

Mount Sinai researchers have identified how APOE4, the strongest genetic risk factor for Alzheimer’s disease, damages the brain’s blood vessels and promotes the buildup of abnormal proteins linked to neurodegenerative disease. Published in Cell and Cel…

Every person is a collection of genetic puzzle pieces. On their own, those pieces can be hard to understand, but together, they form the picture that is you.

Every person is a collection of genetic puzzle pieces. On their own, those pieces can be hard to understand, but together, they form the picture that is you.

Researchers at Memorial Sloan Kettering Cancer Center (MSK) and their colleagues have discovered that a type of rogue DNA found in aggressive cancers has a hidden structural weakness—and that blocking a single repair protein can cause it to fall apart,…