The new approach could lead to better treatments for those waiting years for answers.
Hundreds of patients with rare diseases have been given a diagnosis for the first time, thanks to a study which involved analysing their entire genome.which started in 2013.
Leslie had endured years of treatment for serious kidney disease which led to two kidney transplants - and was worried that his granddaughter Katie, in addition to his daughter, was going to be affected. A 10-year-old girl with a rare, unknown condition also received a diagnosis through the study which meant she was able to have a bone marrow transplant. She had been admitted to intensive care multiple times and visited hospital on more than 300 occasions.The study, led by Genomics England and Queen Mary University of London, marks the first time that whole genome sequencing has been used in a healthcare system and applied to large numbers of patients with rare diseases.
Your genome is unique, is more than three billion letters long, and is found in almost every cell in your body.One human genome can be sequenced in about a day - but the analysis of it takes much longer. A total of 14% of those diagnosed were found in regions of the genome which would have been missed by other methods of testing.metabolic conditions, which are related to diabetes, high blood pressure and obesity
More than 80% of these have a genetic component, and they are often disabling and expensive to manage.Prof Damian Smedley, from the Queen Mary research team, said the new approach "was key to us being able to solve the 'needle in a haystack' challenge of finding the cause of a rare disease patient's condition amongst the millions of variants in every genome".
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