Funding research into mitochondrial disease in order to improve lives is a key element of our strategy
The Lily Foundation is the largest charitable funder of mitochondrial disease research in Europe, and our funding strategy focuses on two key areas – improving diagnosis and finding treatments.
Improving diagnosis
In order to find a cure for mitochondrial disease we need to know all we can about the genes that cause it.
When we first launched our charity back in 2007, obtaining a genetic diagnosis for mitochondrial disease was extremely difficult. Genes were tested one at a time, at different labs across the world. The diagnostic journey was long, and testing was slow and expensive.
Since 2008 we’ve invested heavily in diagnostic research (over £1 million invested to date), and through initiatives such as our ground-breaking Lily Exome Sequencing we’re continually identifying new genes that can cause the condition.
Diagnostic technology has advanced significantly since then, and part of our strategy has been to develop a national collaboration between mitochondrial disease research institutes, doctors and patient groups. By facilitating the sharing of data and resources, we’ve been able to streamline diagnostic pathways and made it easier for families to get the answers they need to plan their futures.
Because the importance of obtaining a mitochondrial disease diagnosis shouldn’t be underestimated – having a genetic diagnosis helps plan patient care and treatment, enables families to make decisions about their reproductive options, and is vital for getting access to clinical trials.
However, the diagnostic odyssey for many mito disease patients remains a real issue and one that as a community we need to tackle. We’re proud to currently fund a new Precision Medicine Diagnostics Project which aims to pick up cases that haven’t been diagnosed through routine NHS testing.
As well as improving diagnosis, our research into mitochondrial genetics has also led to new ways to prevent transmission of severe mitochondrial disease. With new clues as to how the condition may be treated emerging all the time, it’s vital that we continue funding in this area.
Our other main research focus is on discovering treatments for mitochondrial disease. Improved diagnosis has led to larger numbers of confirmed patients with mitochondrial disease, which in turn means more opportunities for clinical trials of potential treatments using human patients.
We hold an annual grant call that asks for applications from UK academic researchers and institutions who can demonstrate they’re committed to discovering innovative treatments for mito. Since 2016 we’ve funded (and continue to fund) over 20 exciting projects.
Some involve developing new (or novel) drugs that may be able to restore mitochondrial function. Others have looked at repurposing drugs – whether drugs that are already used in the routine care of patients with other diseases can be useful in the treatment of mitochondrial diseases.
We’ve also funded projects which look at managing some of the many symptoms of mitochondrial disease – whether that’s seizures, gut problems, balance issues or hearing loss – as well as funding the latest cutting-edge gene therapy techniques.
New money in this area, combined with our ability to campaign for better therapies, is opening up a new era of mitochondrial disease research and fresh hope for patients and families.
