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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