Why Is Research Important?

Finding a cure through funding vital research

There are currently very few effective treatments and no cure available for Mitochondrial Disease.

We are currently supporting research initiatives at Guy’s and St Thomas’/Evelina Children’s Hospital, Newcastle University and Great Ormond Street Hospital/ Institute of Child Health and Sir John Radcliffe Hospital, Oxford.

By funding this work, we hope to enable doctors to get a better understanding of how mitochondria function. This will help identify new disease causing genes and improve the speed and accuracy of diagnosis. This will lead to the development of effective treatment options, and techniques to prevent transmission.

The Lily Foundation is committed to funding medical research and improving the understanding of all Mitochondrial Diseases with the hope of developing effective treatments for those affected and ultimately finding a cure. We will not give up! We will keep fighting for hope and life.

Over the last 10 years, scientists have made significant advances in diagnosing and potentially treating rare diseases, through the emergence of 'next generation gene sequencing techniques'.

These techniques have dramatically improved understanding of our genetic code and what our genes do, and is providing a new route to rapidly identifying disease causing genes, which was not previously available.

Rare diseases represent a considerable health burden to the NHS, however research funding for this area is tiny compared with other conditions – only £1 per person compared to £185 per person affected by cancer.

Funding for Mitochondrial Disease research is only a fraction of this £1 and we want to change this.

With the emergence of this new technology, we are on the brink of a healthcare revolution and the potential for making huge and rapid advances in this area right now is enormous.

By investing in this research now, we hope to provide affected families with answers, treatments and ultimately a cure.

Why Genetic Testing?

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.

Without a genetic diagnosis it is often impossible to predict progression of disease, identify treatment options, offer advice on family planning or give a life expectancy.

It is recognised that genetic testing is critical, particularly in paediatrics, because early breakthroughs have, and are likely to continue to come from the study of children with rare disorders. These findings then have the potential to feed into treatments for more common conditions linked to mitochondrial dysfunction in all ages.

Understanding what genes do ….

Despite the continuing discovery of more disease causing mutations, it remains really difficult to tell which ones are truly important in disease.

An average person contains millions of genetic differences, but not all of these will cause disease, and collecting large enough groups of similarly affected individuals to assess new therapies has been difficult – mainly because the diseases are rare!

Promising advances are being made through the creation of 3D map's of mitochondrial proteins which hope to help predict the importance of mutations in these genes, but with over 250 genes that are known to cause Mitochondrial Diseases and an additional 1,000 more that have the potential to cause human disease, you can appreciate that the challenge is huge! More hands make light work so investing in research is absolutely vital if families are to get the answers they need and we are to beat this disease.