Researchers have identified a rare class of genetic differences transmitted from parents without autism to their affected children with autism and determined that they are most prominent in "multiplex" families with more ...
Jul 26, 2021
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Two major genetic studies of autism, led in part by UC San Francisco scientists and involving more than 50 laboratories worldwide, have newly implicated dozens of genes in the disorder. The research shows that rare mutations ...
Oct 29, 2014
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(Medical Xpress)—A team of researchers with the UCL Institute of Neurology in the U.K. with assistance from a pair of researchers in New Guinea, has found a gene mutation that confers complete resistance against a type ...
Solving the genetic puzzle of why babies developed a rare type of diabetes has uncovered a new biological pathway that is fundamental to insulin production, and could boost research into new treatments for more common forms ...
Nov 9, 2020
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A novel molecular pathway to explain how a mutation in the gene ACTA2 can cause individuals in their 30s—with normal cholesterol levels and no other risk factors—to develop coronary artery disease has been identified, ...
Jul 7, 2023
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A common culprit of skin and respiratory infections, Staphylococcus aureus is highly unpredictable. Between 20 and 30 percent of people carry quiet colonies on their skin and in their nostrils, which seldom cause problems ...
May 19, 2022
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An international team of researchers who discovered a new gene disorder that causes severe childhood epilepsy leveraged that finding to reduce seizures in two children. The collaborators' case report reflects the potential ...
Sep 20, 2016
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As people grow older, certain genetic mutations in hematopoietic stem cells (HSCs)—which give rise to blood and immune cells—can eventually cause cancer or predispose people to cardiovascular disease.
Oct 15, 2020
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Scientists have made a major discovery about how cells repair broken strands of DNA that could have huge implications for the treatment of cancer.
Jul 18, 2018
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Simply put, cancer is caused by mutations to genes within a cell that lead to abnormal cell growth. Finding out what causes that genetic mutation has been the holy grail of medical science for decades. Researchers at the ...
Aug 12, 2015
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