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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. ....

United Kingdom , Markj Ponsford , Alicia Ellison , Kevin Norris , Amandaj Walne , Inderjeet Dokal , Jenna Alnajar , Juliaw Grimstead , Professor Duncan Baird At Cardiff University , Cancer Research United Kingdom , Cardiff University , Wales Cancer Research Centre , Research Council , Professor Tom Vulliamy , Queen Mary , Blizard Institute , Professor Duncan Baird , Medical Research Council , Welsh Clinical Academic Training , Kez Cleal , Tom Vulliamy , Queen Mary University Of London , Medical Research , Life Expectancy , Cancer Research , ஒன்றுபட்டது கிஂக்டம் ,

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