Solving the Unsolved: Integrating Omic Approaches to Enable Genomic Diagnosis of Virtually All Patients With Mitochondrial Disease
Abstract
New genomic technologies are transforming diagnosis of inherited disease but perhaps half of all children with mitochondrial diseases or other inherited disorders are not currently being diagnosed. This project focuses on using new computational and "Omic" approaches to push clinical genomic diagnostic rates from about 50% to close to 100%. These Omic approaches include long-read DNA sequencing technologies, RNA sequencing and quantitative proteomics. The major focus is on several retrospective cohorts of patients that are among the largest well-characterized groups of patients internationally. The requirements for ethical approval of applying genomic analyses to retrospective cohorts collected over many years have taken longer than we anticipated to finalize in Australia so as to ensure HRPO compliance. Those approvals are now in place but they delayed finalizing Collaboration agreements with other centers, which are now nearing completion. We are thus anticipating having final approvals in place to be able to formally initiate the study by January 1, 2020.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 2019
- Accession Number
- AD1086374
Entities
People
- David R. Thorburn
Organizations
- Murdoch Children's Research Institute