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

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/1179029

Funding Status
Status not available

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Funded Activity Summary

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.

Funded Activity Details

Start Date: 01-01-2020

End Date: End date not available

Funding Scheme: Partnership Projects

Funding Amount: $1,273,553.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

diagnostic test | genetic testing | mitochondrial disease | mitochondrial dna (mtdna)

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