The Mito Foundation is fortunate to work with incredible individuals who go the extra mile to support people with mito. Each year we recognise some of those whose exceptional efforts have had a significant impact on the mito community.
Congratulations to the following:
Fabienne is the neurogenetics nurse at Royal North Shore Hospital.
Trent and Alysha held a fundraiser at their Crossfit gym. They called it the Bloody Long WOD, having registrants complete a 7-hour workout and upping the ante on the 35km Bloody Long Walk for their extremely fit members.
Trent and Alysha's son, Bodhi, has mito, and this event was a way to engage their already supportive community in something they love while raising money to support Mito Foundation. The event in August raised over $9,200. All this was done while caring for their newborn baby and tending to complications with Bodhi's health.
This couple, their family and community are an inspiration.
Kerrie always supports The Bloody Long Walk in Victoria with her ''Little Olive Cafe" coffee van, donating the proceeds to Mito Foundation.
Kerrie also walks in the event and always fundraises in addition to the coffee van donations. Kerrie's dedication is inspired by her beautiful granddaughter Maeve.
Kim is the Deputy Chair of the Mito Community Advisory Panel and enthusiastically volunteers her time and expertise. Kim is full of great ideas and is a regular feature at Queensland events, including the Bloody Long Walk, always with a smile and happy to chat. Her enthusiasm is infectious!
Dr Maher's research has uncovered the structure and function of a protein (COA7) that when mutated, is linked to neurological conditions such as ataxia and leukoencephalopathy. It was previously unknown exactly how this protein was involved in assembling complex IV in the mitochondrial respiratory chain.
Unpicking these protein assembly processes is crucial for understanding the origins of mitochondrial disease.
Dr Davis' research uses innovative genomic methods to simplify the diagnosis of mito and shorten the long and at times invasive diagnostic journey.
This is achieved by using a simple (single) blood test and analysing nuclear and mitochondrial DNA simultaneously to find the underlying cause of disease. To further improve diagnostic rates, a new bioinformatic tool was developed to identify mitochondrial DNA variants even if only present at low levels in blood. 53.7% of patients recruited into the study were subsequently diagnosed.
Highly Commended Contributions To Mitochondrial Research
Mito Foundation acknowledges the following individuals for their commitment to mito research:
Dr Giulia Rossetti
Dr Richard Lee
Dr Thomas Jackson
Dr Isabel Lopez Sanchez
Dr Janet Long