The Lily Precision Diagnostics Project is an innovative diagnostic model designed to speed up analysis of suspected cases of mitochondrial disease and overcome a 'bottle neck' in existing diagnostic services.
The project is part of an ongoing collaboration between The Lily Foundation and leading mitochondrial centres in London, Oxford and Newcastle to improve care for people affected by mitochondrial disease. It uses cutting-edge data analysis and the latest bioinformatic techniques, which have evolved since the charity launched its previous diagnostic project, Lily Exome Sequencing, in 2012.
The diagnosis of mitochondrial disease involves testing patients' DNA to try to find the responsible mutation. However, as most individuals carry millions of mutations, it can be very tricky to know which is the cause of the disease. Though DNA testing is available via the NHS, a lack of access to cutting-edge genetic techniques and specialist doctors has led to a backlog of patient data. Many complex cases remain in limbo, leaving patients stuck without a diagnosis.
Lily Precision Diagnostics aims to address by funding a small team of researchers who will apply the latest informatics and expertise to analyse genetic data. The charity will further empower this team by funding emerging genetic techniques, including better analysis of existing DNA data and the addition of RNA sequencing. The team is currently focused on re-analysing patient data from previous diagnostic projects, with processing of new cases expected to begin from spring 2023.
Alison Maguire, Head of Research and Finance at The Lily Foundation, commented:
"Having a genetic diagnosis is crucial for families affected by mitochondrial disease. It gives them certainty, helps them plan for the future, and opens up options for prenatal testing during pregnancy and IVF procedures for subsequent children. For doctors and scientists, genetic diagnoses can help guide patient management, and are the basis for research into new drug treatments. So there is much to be gained from funding the technology and expertise to improve diagnostic rates. Lily Precision Diagnostics will not only benefit those waiting for a diagnosis now, but also add to our wider understanding of mitochondrial diseases and bring us closer to an eventual treatment or cure."
Dr Robert Pitceathly, lead Principal Investigator on the Precision Diagnostics Project, commented:
"This project is a step up in terms of the genetic laboratory techniques we are able to offer people with suspected mitochondrial disease. We will potentially identify genetic changes that would not be detected using routine methods, and offer affected families a diagnostic service that might not be available through the NHS for several years. Mitochondrial diseases are complex and achieving a genetic diagnosis often requires both cutting-edge technology and a high level of clinical understanding. That is precisely what this project is funding."
The Lily Foundation is the UK's leading mitochondrial disease charity, and the largest charitable funder of mitochondrial research in Europe with £3 million invested to date. All funding is provided solely by public donations. For more information about Lily-funded research projects, click here. To donate and help support this life-changing research, click here.