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 [ 10/1/2020 - 9/30/2025 ]

Research Grant

Brief description 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.

Funding Amount $1,273,553.50

Funding Scheme Partnership Projects

Chief Investigator Prof Carolyn Sue

Notes Partnership Projects - 3rd call for 2019