Autor: Clinical genetics
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Study identifies inherited genetic risk factors in childhood leukemia
A study from Karolinska Institutet shows that genetic testing can identify germline predisposition underlying childhood leukemia. The findings, published in Nature Communications, could help enable more personalized treatment and long-term follow-up.
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New genetic testing guidance could improve patient diagnosis worldwide
New guidance co-led by University of Otago researchers could help more people with suspected inherited diseases receive a clear genetic diagnosis.
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Gene editing approach opens potential new route to Alzheimer’s treatment
Dr. Kevin Kemp and his research team at the University of Bristol have converted the high-risk Alzheimer’s gene APOE4 into the lower-risk APOE3 gene.
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AI and fruit fly tests link BRSK1 gene to rare neurodevelopmental disorder
Researchers at Baylor College of Medicine, the Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital, the Texome Project and collaborating institutions have identified variants in the BRSK1 gene as a likely diagnosis for indi…
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AI and fruit fly tests link BRSK1 gene to rare neurodevelopmental disorder
Researchers at Baylor College of Medicine, the Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital, the Texome Project and collaborating institutions have identified variants in the BRSK1 gene as a likely diagnosis for indi…
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How missing pieces of the Y chromosome drive cancer in men
A new study found that cancer cells selectively chip away gene-rich sections of the Y chromosome, triggering changes that regulate tumor growth. Co-led by University of Arizona Cancer Center physician-scientist Dr. Dan Theodorescu, the paper, «Recurren…
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How missing pieces of the Y chromosome drive cancer in men
A new study found that cancer cells selectively chip away gene-rich sections of the Y chromosome, triggering changes that regulate tumor growth. Co-led by University of Arizona Cancer Center physician-scientist Dr. Dan Theodorescu, the paper, «Recurren…
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New brain tumor test could transform diagnosis and treatment
Scientists and doctors at Newcastle are among the first in the U.K. to use a pioneering brain tumor test with the potential to speed up diagnosis for patients—from weeks to hours.
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New brain tumor test could transform diagnosis and treatment
Scientists and doctors at Newcastle are among the first in the U.K. to use a pioneering brain tumor test with the potential to speed up diagnosis for patients—from weeks to hours.
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DNA sequencing test finds answers for patients with inherited muscle disease
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…