Lily Research

Improving lives today, saving lives tomorrow

Supporting medical research into mitochondrial disease is a fundamental aspect of our work, not only because it could potentially lead to a cure but also because it helps to improve lives now. Lily-funded research projects have already resulted in faster, less invasive patient diagnosis and helped families affected by mitochondrial illness to have healthy babies. Several promising avenues for new treatments are also currently being explored.

Research projects we currently fund:

Exome Sequencing

Lily Exome Sequencing is a groundbreaking diagnostic technique whereby 1000's of genes can be analysed simultaneously, instead of one at a time as was previously the case. The time taken to locate the faulty genes that cause mitochondrial disease has been dramatically reduced, resulting in faster and more accurate diagnosis. Once families know the genetic cause of their mitochondrial disease, they are able to make important life decisions in relation to managing their condition and family planning. Many healthy children, free from mitochondrial disease, have been born thanks to this advance.

Defects in nuclear DNA account for approximately 75-80% of paediatric Mitochondrial Disease, but it is estimated that only a tiny proportion of these cases actually have a confirmed genetic diagnosis.

There are believed to be over 1000 nuclear genes involved in mitochondrial function, but to date only around 300 of these have been linked to disease, making genetic diagnosis of nuclear DNA disease a huge challenge.

The NHS genetic testing service currently only screens for about 4% of these known genes which leaves a very high proportion of families with no answers. Genetic diagnosis can be invaluable when assessing risk to other family members, for future family planning and in some cases, it can even help direct treatment.

Exome sequencing is a technique which can look at 1000's of genes at the same time, and is much more efficient than standard single gene testing. Unfortunately there is currently no NHS provision for exome sequencing.

In 2012, Lily and the team at Guy's & St Thomas' set about trying to change this. They planned and developed a detailed genetic testing pathway and with the support of Newcastle University they started recruiting families in early 2014.

The aim of our Lily exome sequencing project would be to sequence 100 patients with nuclear mitochondrial defects, giving families a genetic diagnosis for their Mitochondrial Disease and hopefully, in the process, discover new disease causing genes to help improve the understanding of this condition.

This ambitious project would accept samples from all over the country via the 3 major centres of excellence in Mitochondrial Disease (Newcastle, Oxford and London).

You can read more about our exome sequencing project below:

To date we have screened 202 families and provided definite, or highly likely answers in 73% of these cases.

Before our study, families often had to wait years to get a genetic diagnosis for their child, and even then, the success rate was low, with maybe only 20% receiving the genetic diagnosis they had hoped for.

Unfortunately, a minority of our families still do not receive a genetic diagnosis from initial screening, so further investigation work is required. Lily funds 2 specialist mitochondrial disease researchers at Newcastle to undertake follow up work on these cases, to ensure all our families (even those with very rare forms of disease) have the best opportunity to get a genetic diagnosis.

Lily funding has already identified 34 novel mutations linked to mitochondrial function which were not previously known to cause disease, so our work is greatly advancing the understanding of Mitochondrial Disease, as well as helping give answers to individual families.

Our project is the first country wide collaboration of its kind for Mitochondrial Disease diagnostics in the UK, and we will continue to fund this valuable testing for families, until an equivalent NHS service is in place.

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Enzyme Replacement for MNGIE

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare mitochondrial condition that is caused by a genetic fault in a gene that codes for an enzyme which removes certain biological molecules from the body. When the enzyme doesn’t work properly, the molecules begin to build up which causes damage to the mitochondria. A team based at University of London are due to begin a clinical trial to test a therapy for MNGIE where the missing enzyme is added to the patient’s own red blood cells, resulting in the unwanted biological molecules being removed from the blood. The Lily Foundation is funding research to assess potential biomarkers found in blood that can be used in this clinical trial to measure the clinical benefit of this therapy in patients with MNGIE. (2018-2020)

Treatments for RRM2B Depletion Syndrome

Clinical trials for any kind of mitochondrial disease can be greatly improved by ensuring that patients are ‘trial ready’. Part of this process involves studying the clinical features of patients in detail, which allows the development of meaningful outcome measures that can be used to determine if a treatment is having a clinical benefit. The Lily Foundation is funding a study that aims to collect this information for patients with mitochondrial disease caused by a genetic fault in the gene RRM2B. This research project also aims to develop new drugs that could potentially be used to treat patients with this type of mitochondrial disease and to test these drugs in cell models derived from patient skin cells. (2018-2019)

Preventing Mitochondrial Cardiomyopathy

Increased heart size is a common symptom in mitochondrial disease that can lead to heart failure and even death. Previous research has identified a specific set of chemical reactions (known as a metabolic pathway) that may be more active in patients with mitochondrial disease. The Lily Foundation is funding research to test a drug that could reduce the activity of this pathway as a way to prevent or slow down the increase in heart size using a mouse model of mitochondrial disease. This could be of huge benefit to many patients with mitochondrial disease. (2018-2019)

NR Treatment

Nicotinamide Riboside (NR) is a form of vitamin B3 that has been shown to increase the number of healthy mitochondria in animal models of Mitochondrial Disease. This could benefit patients by reducing some of the symptoms of Mitochondrial Disease. In its current form, only low levels of NR reach the bloodstream after a tablet is taken. The Lily Foundation is funding research to improve the uptake of NR into the bloodstream and maximise the positive effects on mitochondria. If successful this could lead to clinical trials of NR as a potential treatment for Mitochondrial Disease. (2018-2019)

TRID Therapy

Mitochondrial Diseases are caused by mutations in the genetic code found within our cells. Some of these mutations change the genetic code in such a way that the cell is unable to produce the protein it needs for mitochondria to work. A certain type of drug known as translational read-through inducing drugs (TRIDs) may enable the gene mutation to be 'overlooked' so that protein production in cells could still occur. The Lily Foundation is funding research to test the effectiveness of TRIDs on cells from patients with Mitochondrial Disease caused by various gene mutations. These drugs could potentially be used to treat a wide range of Mitochondrial Diseases and benefit many patients. (2017-2019)

Low Residue Diet

Symptoms involving the gut are common in patients with Mitochondrial Disease. Research has shown that some of these symptoms can be alleviated by limiting the amount of foods that are not easily digested in the gut. This 'low residue diet' results in less undigested food remaining in the gut, leading to easier passage of stools through the bowel and fewer and smaller bowel movements. The Lily Foundation is funding research which aims to provide more information about the effects of a low residue diet on Mitochondrial Disease patients with gut related symptoms. (2017-2018)