How As A Patient Do I Get Involved In Research?

1. Mitochondrial Disease Patient Cohort (MitoCohort)

The Mitochondrial Disease Patient Cohort (or MitoCohort for short) aims to gather information on patients in whom Mitochondrial Disease has been clinically and/or genetically identified. This data will be used to improve the understanding of Mitochondrial Disease and longer term will translate into direct health benefits for patients.

Patient data remains anonymous throughout and is securely stored in code at Newcastle University. Getting involved simply involves giving your consent for your existing data to be used  - no additional testing is involved. Being involved will also ensure you are invited to join any further new trials that are deemed relevant for your condition.

Currently, over 1300 patients have been enrolled to this patient cohort and the number continues to grow.

At present the cohort is only recruiting for patients currently living with Mitochondrial Disease. For information on recruitment into this study please contact [email protected]

2. Lily Exome Sequencing Study

The Lily Exome Sequencing Study is delighted to be recruiting patients through Guy's & St Thomas' Hospital, Newcastle upon Tyne Hospitals and Oxford John Radcliffe Hospital and we hope soon to have patients referred in from London Queens Square and Great Ormond Street Children's Hospital.

If you have a diagnosis of Mitochondrial Disease through biochemical tests but do not have a genetic diagnosis (know the gene that caused the problem) you can apply to enrol in this study.

We hope to be able to test 100 patients through 2014/15 and give them fast answers which will allow them to assess the risk of future pregnancies and inform siblings of risk of transmission through future generations.

The Lily Foundation is committed to funding further research into any newly discovered genes, identified through this study, that are suspected to cause disease. By better understanding the function of disease causing genes we will move closer to effective treatments and ultimately a cure.

For further information on entry criteria and the enrolment process please contact [email protected]

3. The Mito Family Study - De Montfort University


This research focuses on reproductive choices in the context of mitochondrial disorders. The research aims to gain a better insight into how recent developments in genetics and bio technologies, and in particular emerging nuclear transfer techniques, are changing the perception of this uncertain inherited and chronic disease. It seeks to understand, in particular, the perceptions and experiences of women carrying mitochondrial disorders and the impact this has on their decisions about having children.

The Lily Foundation have met with Dr Cathy Herbrand and are delighted to be involved in this project in an advisory capacity.

If you would like to find out more about the study please contact Dr Herbrand on or visit her information page at De Montfort University .