Biologists have created a rapid test for 50 rare genetic diseases
A large number of diseases, including various forms of muscular dystrophy, Parkinson's and Huntington's diseases, are associated with the presence of small mutations in certain genes that completely or partially disable them.
TASS, March 4th. An international team of biologists has developed a test system that allows you to quickly identify mutations associated with the development of Huntington's disease, muscular dystrophy and four dozen other genetically determined diseases. This was announced on Friday by the press service of the Australian Institute for Medical Research Garvan (GIMR).
"The creation of this test will allow us to make a real revolution in the prevention of these diseases. In the past, each associated genetic variation was diagnosed separately, which dramatically increased the time and cost of detecting them. Our test allows you to simultaneously search for all forms of similar diseases that due to the appearance of extra repetitions in the genes," said GIMR researcher Kishore Kumar, quoted by the institute's press service.
A large number of diseases, including various forms of muscular dystrophy, Parkinson's and Huntington's diseases, are associated with the presence of small mutations in certain genes that completely or partially disable them. A large number of such "misprints" in the DNA structure, as well as a small number of their carriers, make it difficult to identify such mutations and select a treatment for their carriers.
Kumar and his colleagues have developed a technology that can simultaneously diagnose a large number of such diseases, including hard-to-detect disorders in the work of genes associated with the appearance of extra repetitions in their structure. These include, in particular, amyotrophic lateral sclerosis, Huntington's disease, and various forms of muscular dystrophy.
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