Tag Archives: murat gunel

Yale Researchers Find Genetic Link Between Heart Disease and Brain Aneurysms

Yale School of Medicine researchers have discovered that a variant of a gene linked to heart disease also increases the risk of deadly aneurysms of blood vessels in the brain. The discovery of this link raises hopes for new treatments for intracranial aneurysms, which affect more than a half million people worldwide annually.

“Existing drugs already target this common pathway and, in the future, could help treat or prevent aneurysms in people who are at risk,” said Murat Gunel, professor of neurosurgery, genetics and neurobiology and senior author of the study, published the week of Nov. 21 in the Proceedings of the National Academy of Sciences. (more…)

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Tiny Variation in One Gene May Have Led to Crucial Changes in Human Brain

The human brain has yet to explain the origin of one its defining features – the deep fissures and convolutions that increase its surface area and allow for rational and abstract thoughts.

An international collaboration of scientists from the Yale School of Medicine and Turkey may have discovered humanity’s beneficiary – a tiny variation within a single gene that determines the formation of brain convolutions – they report online May 15 in the journal Nature Genetics. (more…)

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Mutations in Single Gene May Have Shaped Human Cerebral Cortex

The size and shape of the human cerebral cortex, an evolutionary marvel responsible for everything from Shakespeare’s poetry to the atomic bomb, are largely influenced by mutations in a single gene, according to a team of researchers led by the Yale School of Medicine and three other universities.

The findings, reported April 28 in the American Journal of Human Genetics, are based on a genetic analysis of in one Turkish family and two Pakistani families with offspring born with the most severe form of microcephaly. The children have brains just 10 percent of normal size.  They also lacked the normal cortical architecture that is a hallmark of the human brain. This combination of factors has not been seen in other genes associated with the development of the human brain, the authors note. (more…)

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