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Current genetic testing methods often fall short in diagnosing pediatric patients with developmental delay, intellectual disability, or congenital abnormalities. Sometimes, this is because certain genetic variants are technically very difficult to detect. Other times, tests reveal genetic mutations that clinicians simply don’t know how to interpret: it’s not clear whether they are pathogenic, so it’s impossible to say if they’re related to a disease or not.
Over the past several years, researchers have found that several rare conditions associated with these symptoms are caused by mutations in epigenetic genes, such as those encoding histone modifying enzymes or components of DNA methylation machinery. These result in wide-scale disruptions in methylation patterns across the genome, creating a distinct “episignature.”
Now, a team of Canadian and American scientists have developed a computational tool that can diagnose 14 rare, hereditary disorders based on a patient’s episignature. They report their findings ...
