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New findings could be life-changing for genetic syndrome sufferers
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New findings could be life-changing for genetic syndrome sufferers

by QIMR Berghofer Credit: Unsplash/CC0 Public DomainAn international research team led by QIMR Berghofer and Peter MacCallum Cancer Center has discovered that people with the hereditary cancer disorder Li Fraumeni syndrome are at greater risk of a much broader spectrum of cancers than previously thought. Li Fraumeni syndrome is a rare but devastating condition, which...

Turning off the damaging signals from a genetic syndrome that causes debilitating kidney disease
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Turning off the damaging signals from a genetic syndrome that causes debilitating kidney disease

by Federico Graciano, Duke-NUS Medical School Graphical abstract. Credit: Journal of the American Society of Nephrology (2022). DOI: 10.1681/asn.2021040577 A treatment strategy using an antibody that inhibits a cell signaling protein called interleukin-11 (IL-11) could lead to new hope for people with a debilitating genetic kidney disease called Alport syndrome. Scientists from Duke-NUS Medical School, Singapore, reported...

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A new facial analysis method detects genetic syndromes with high precision and specificity

Developed by Araceli Morales, Gemma Piella and Federico Sukno, members of the Department of Information and Communication Technologies, together with researchers from the University of Washington UNIVERSITAT POMPEU FABRA – BARCELONA Each year, over a million children are born with a genetic disease. Although about half of genetic syndromes present facial dysmorphology, abnormal facial features...

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Testing people with bowel cancer for genetic syndrome could save lives and money

by Medical Journal of Australia Lynch syndrome, a mutation of four genes involved in DNA repair, is associated with increased risk of developing a range of cancers, particularly colorectal cancer (CRC). In the most comprehensive analysis for Australia to date, published online by the Medical Journal of Australia today, an international team of researchers led...