DNA Sequencing Quickly Identifies Metabolic Diseases

Everyone has seen at least one episode of a medical mystery series. The doctors, having no real idea what the patient could be suffering from, are forced to treat patients based on hunches. Wouldn’t it just be so much easier if we could look through their DNA to see if there’s some form of weird code leading to an obscure disease, outlining their symptoms perfectly?

That’s actually not very far from the truth now. After the success of the Human Genome Project, many new mysteries have been solved and advancements have been made, the most recent of which being the diagnosis of patients with hard-to-pinpoint metabolic diseases being applied to the hospitals themselves.

This is particularly useful in mitochondrial diseases as these, according to New Scientist,  ”are notoriously difficult to diagnose. …the diseases often involve many genes, and symptoms vary across organs. Currently, diagnosing such disorders can take months or even years, and involves an invasive muscle biopsy. DNA sequencing technology may help to speed things up.”