Delivering precision diagnosis to patients with mitochondrial disease: Using digital technologies to enhance the delivery pathway to provide an accurate genetic diagnosis for patients with mitochondrial disease

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Mitochondrial disease (MD) is the most common inherited metabolic condition. MD can be diagnosed by using whole genome sequencing (WGS) and enables treatment and accurate family planning. We will create a web-base platform to support the diagnosis and treatment of patients with or suspected to have MD. Using a custom-built web-based platform, telemedicine and automated software we will integrate care by primary care givers and MD experts to deliver a precise genetic diagnosis to our MD patients.