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Scientists develop rapid test for diagnosis of rare set of genetic conditions


Queen Mary University of London
Telomeropathies are caused by premature shortening of the tips of chromosomes, the DNA molecules which contain our genetic information.
They can result in a range of symptoms, including bone marrow failure, pulmonary fibrosis, cancer and liver disease in adults and children. There are currently about 1,000 people living with telomeropathies in the UK, many of which are undetected.
Now, researchers have developed a rapid laboratory test for diagnosing patients showing the many different types of symptoms that can arise from telomeropathies.
The technique, called high-throughput single telomere length analysis (HT-STELA), is a DNA-based blood test that provides high-resolution information. The researchers say it can be applied to a broader range of samples than existing tests, including fresh or frozen blood samples as well as DNA. ....

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I want to help our understanding of cancer in memory of my parents, says pioneering researcher


I want to help our understanding of cancer in memory of my parents, says pioneering researcher
Around 50 people are diagnosed with cancer every day in Wales – see how you can help to fund new, kinder treatments and improved testing by leaving a gift in your Will
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Professor Duncan Baird is the research lead at the Division of Cancer and Genetics at Cardiff University
Professor Duncan Baird is the research lead at the Division of Cancer and Genetics at Cardiff University.
He and his team are studying special DNA structures found inside our cells, known as telomeres, and the role they play in cancer. ....

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Key type of immune cell 'self-renews' in humans, new study finds