Single test for over 50 genetic diseases will cut diagnosis from
decades to days
Validating genetic diagnosis of neurological and neuromuscular
diseases using faster, smaller, cheaper sequencing technologies
A new DNA test, developed by researchers at the Garvan Institute of
Medical Research in Sydney and collaborators from Australia, UK and
Israel, has been shown to identify a range of hard-to-diagnose
neurological and neuromuscular genetic diseases quicker and
more-accurately than existing tests.
'We correctly diagnosed all patients with conditions that were already
known, including Huntington's disease, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies, motor
neuron disease and more,' says Dr Ira Deveson, Head of Genomics
Technologies at the Garvan Institute and senior author of the study.
https://www.eurekalert.org/news-releases/945088
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