The review discusses advances in mitochondrial medicine following the development of new technologies that should pave the way for “improved outcomes for patients with mitochondrial disease”. It's publication in The Lancet reflects not only the calibre of the clinicians we work with but also the quality of researchers funded by The Lily Foundation.
Several high-throughput technologies that have transformed mitochondrial research over recent years, including next generation sequencing (NGS), are now used routinely in many diagnostic labs to improve the diagnosis of mitochondrial disease. In addition to NGS, there are other ‘omics technologies’ that have become highly valuable in the field of mitochondrial research. The contribution of these powerful techniques in both the laboratory and the clinic are discussed in the review written by Professor Rahman and her PhD student Joyeeta Rahman, who searched the available scientific literature to identify exciting research into mitochondrial disease arising from the increasing use of such technologies.
Genomic techniques such as whole exome sequencing, used in the Lily Exome Sequencing project, help to identify genetic faults in the DNA sequence that cause mitochondrial disease. Most of us will be familiar with the term ‘genomics’, which refers to the study of genetic information, or the DNA sequence, that is found in the cells of our body. Genomic techniques such as whole exome sequencing, used in the Lily Exome Sequencing project, help to identify genetic faults in the DNA sequence that cause mitochondrial disease. Other ‘omics technologies’, including transcriptomics, proteomics and metabolomics, are perhaps less familiar but involve the study of what is produced by the genetic information rather than the sequence of the DNA itself. Although still in its infancy, these additional techniques are being used more often alongside genomics to help improve the diagnosis of mitochondrial disease using what has been termed an ‘integrated omics’ approach.
The review provides examples of how omics technologies have been important in many different areas of mitochondrial medicine, including how they have helped reveal basic aspects of mitochondrial structure and function, helped in the understanding of energy production by the mitochondria and revealed details about how mitochondria communicate with other parts of the cell. The review goes on to discuss how these technologies have increased the diagnostic rate for families affected by mitochondrial disease, whilst also providing new ideas for potential therapeutic targets that could eventually lead to the development of effective therapies.
Professor Rahman acknowledged the research grant funding awarded by The Lily Foundation at the end of the review, meaning our name appeared in The Lancet! This is a fantastic accolade which strengthens our reputation within the medical field and reaffirms our close relationship with mitochondrial specialists in the UK.