AMDF Funds Groundbreaking Genomics Study To Improve Mito Diagnosis


The mitochondrial disease (mito) diagnostic odyssey doesn’t have to be long, painful or inconclusive. AMDF is working each day to empower people living with undiagnosed mito to find a diagnosis and enable the best treatments possible.  Ultimately, this AMDF co-funded project will increase diagnosis rates, shorten the diagnostic odysseys, and improve quality of life for Australians with undiagnosed mito.

If you or your doctor suspect you may have mito, follow this link to learn more about becoming involved.

Most people with mito undergo months, if not years of painful and invasive tests and are often misdiagnosed, enduring unnecessary anguish and stress. However, AMDF has funded a project to significantly improve the mito diagnosis pathway. This large project tests out a revolutionary genetic technology, whole-genome sequencing, which is able to diagnose mito by analysing a person’s entire genetic code. AMDF, in partnership with the Australian Genomic Health Alliance (AGHA), has provided funding to ensure that every Australian with undiagnosed mito will have access to a genetic diagnosis.

“AMDF got on board with this project because diagnosis is a critical issue for people with mitochondrial disease. A huge number of patients have clinical symptoms but no definitive diagnosis, and many patients undergo a difficult diagnostic odyssey.”  – AMDF CEO, Sean Murray

Whole-Genome and Whole-Exome Sequencing for Mito

This study evaluates two new types of genomic sequencing, whole-genome and whole-exome sequencing. Both methods analyse far more genes than standard genetic tests, which only scan for known mito genes, missing hundreds of possible locations where the disease may originate. Both only require a minimally invasive blood draw, far less painful than the standard muscle biopsy. Whole-genome sequencing analyses a person’s entire genetic code. This is an immense amount of data, consisting of over 3 billion individual parts. Whole-exome sequencing only analyses the genes that code for proteins. This is around 1 percent of a person’s genetic code. Because all known mito arises from misformed or missing proteins, most experts agree that whole-exome sequencing is sufficient to diagnose the disease. However, this study will collect critical data to compare the two forms of sequencing.

Genomic sequencing is the latest advancement in diagnostic medicine, and Australian mito patients are among the first to benefit from it. Experts believe that mito diagnosis requires the type of in-depth screening that genomic sequencing offers. This is because there are many genes that cause mito (the latest estimate is 1500), and only 250 of these are known to scientists. Therefore, mito requires a broad search to identify its genetic origin.

Figure 1: A scientist examines a DNA microarray. This is a colourful way of representing genetic information in great detail. Each colour represents a tiny fragment of the genetic code. It only takes one missing or altered genetic fragment to cause mito.