Foetuses with a so-called new balanced chromosomal aberration have a higher risk of developing brain disorders such as autism and mental retardation than previously anticipated. The risk is 20 per cent for foetuses with these ...
May 25, 2018
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Down's syndrome – also known as trisomy 21 – is a genetic disorder caused by an additional third chromosome 21. Although this genetic abnormality is found in one out of 700 births, only 20 percent of foetuses with trisomy ...
Jan 19, 2018
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Couples who are undergoing pre-implantation genetic diagnosis (PGD) in order to avoid transmission of inherited diseases, such as Duchenne muscular dystrophy or cystic fibrosis, should also have their embryos screened for ...
Jun 13, 2017
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An experimental cancer medicine called larotrectinib has shown promise treating a diverse range of cancers in people young and old, researchers said at a major cancer conference in the United States.
Jun 4, 2017
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More than one in three tumors that affect the central nervous system are meningiomas and most are benign. However, some can turn deadly. In a new study, Yale researchers identified genetic abnormalities that mark atypical ...
Feb 16, 2017
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Precision medicine - in which diagnosis and treatments are keyed to the genetic susceptibilities of individual cancers - has advanced to the point where it can now impact the care of a majority of children with brain tumors, ...
Jan 19, 2017
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A newly published study has shown that an antiviral drug commonly used to treat HIV can cause heart abnormalities in people who have a genetic mutation in the enzyme that metabolizes the medication, potentially leading to ...
Oct 28, 2016
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Research on fragile X syndrome, the most common inherited cause of mental retardation, has focused mostly on how the genetic defect alters the functioning of neurons in the brain. A new study focusing on a different type ...
Oct 4, 2016
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Antoine Peters and colleagues at the Basel University Children's Hospital (UKBB) have discovered why acute leukemias with the same genetic abnormality vary in their aggressiveness based on their cellular origin. They found ...
Jun 24, 2016
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Five of six patients with advanced metastatic urothelial cancer and at least one of two specific genetic abnormalities, responded to treatment with afatinib, which was approved in 2013 by the Food and Drug Administration ...
Apr 4, 2016
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