In people with the condition, these genes fail to effectively produce the proteins that are required for the structure, function and regulation of the body’s tissues, researchers found. The research was part of a pilot study for the 100,000 Genomes Project – a huge initiative focused on understanding the genetics of cancer and rare diseases.
Professor Nick Morrell, the British Heart Foundation Professor of Cardiopulmonary Medicine in the Department of Medicine at the University of Cambridge School of Clinical Medicine, led the research. He told BBC News: “Identifying the nature of these new genes and mutations in the new genes tells you what causes the disease.
“It allows you to design and come up with potential new ways of treating the disease because you have really well-grounded knowledge about what’s actually causing it in cases where you find these mutations,” he explained.