The causes of rare diseases could possibly be uncovered using a method created to determine genetic mutations that trigger a muscle-wasting condition, a study suggests.
Researchers have devised a method to pinpoint defective genes, which can be linked to a rare type of muscular dystrophy, which causes muscle weakening and heart issues.
The approach may help doctors carry out a faster and cheaper diagnosis of the situation—known as Emery-Dreifuss muscular dystrophy, or EDMD.
It may be adapted to screen for gene mutations involved in different rare diseases, researchers say.
Discovering the reason for rare conditions could be challenging. Robust genetic screening tests are difficult when only a comparatively small number of people are affected.
Previous research has proven that mutations in six completely different genes cause EDMD, which impacts one in 100,000 people worldwide.
Nonetheless, these mutations are found in less than half of individuals diagnosed with the disease, indicating that different genes may also trigger it, researchers say.
Group of Researcher from the University of Edinburgh designed a new multi-stage sequencing method to find different genetic mutations that may result in EDMD.
They initially recognized more than 300 genes that might be involved, including ones linked to different types of muscular dystrophy and those who carry out a similar function to the genes known to cause EDMD.
The examine, revealed within the journal EBioMedicine, was funded by Wellcome, Muscular Dystrophy UK, the Medical Research Council, and the European Union’s Seventh Framework Programme. In addition to helping to establish mutations in rare diseases, using our method in initial NHS screening would also save money and help spot misdiagnoses.