The Battersby Lab, located at the Institute of Biotechnology at the University of Helsinki, received a $55,000 donation to support their research into mitochondrial diseases and C12orf65 deficiency, also known as CMT6 with Leigh Syndrome.
The goal is to develop an effective treatment approach for C12orf65 deficiency that could be extended to other human mitochondrial diseases, which affects an estimated one in 5000 people worldwide. This would mark a significant breakthrough in the hunt for treatments and cures for inherited mitochondrial diseases.
In particular, this donation provides the necessary funding for generating research data needed to support a large pre-clinical research application to the National Institutes of Health (NIH) in the United States of America.
Research Director and Battersby Lab Group Leader Dr Brendan Battersby underlined the importance of the donation, stating:
“This donation provides us with critical experimental resourcing to perform some challenging experiments this year, which we need to show to secure large scale funding for the therapeutic approach that I am developing in collaboration with Prof Robert Burgess (Jackson Laboratory, Bar Harbor, ME, USA).”
This development is only possible due to the support of the Hereditary Neuropathy Foundation (HNF), Lindsey Flynt and Debi Houliares. Based in the US, the donors have worked tirelessly to raise awareness and to offer support for those affected by Charcot-Marie-Tooth (CMT) and related neuropathies.
For them, it is a personal battle.
In 2014, Lindsey’s son Jaxson was diagnosed with a terminal mitochondrial disease known as Leigh Syndrome. He is non-verbal and requires feeding through a gastrostomy button.
Despite this, Jaxson has gone on to meet many milestones the doctors' thought were impossible, including walking and participating in America’s favourite pastime - basketball.
Zach, diagnosed with CMT Type 6 and Leigh Syndrome, shares this love of sports. Zach managed his high school’s baseball, football and basketball teams. Debi, his mother, recalls Zach being substituted on to the court in the final minute of the last basketball game of the season. With seconds left on the clock Zach scored a two-pointer, despite being legally blind.
Research and novel therapies have resulted in tremendous strides in treating issues relating to C12orf65, however there is still a long way to go. Having not only witnessed the changing landscape, the HNF, Debi and Lindsey have played an important role in shaping its progress. It took Debi’s son 14 years to receive a correct diagnosis, yet they have now created a support network for affected families ranging from Ireland to the United States and beyond.
Lindsey commented there is still more to do to raise awareness:
“We know there are many out there suffering from this disease who have been misdiagnosed. We need to do all we can to raise awareness of the symptoms, notably optic atrophy and blindness.”
The HNF have aptly dubbed Lindsey and Debi as one of several Fighter Moms, who have fought to understand, raise awareness, and drive progress in the research of CMT and related neuropathies.
The Hereditary Neuropathy Foundation (HNF) had already established a strong research team including researchers from the UK and the US.
However, there was something missing. Their perseverance led them to Research Director Dr Battersby and the Battersby Lab at the University of Helsinki.
Allison Moore, the Founder and CEO of the HNF, described a feeling of euphoria after their first meeting.
“Following a brief phone call, it became clear that Dr Battersby and the Battersby Lab were the missing link. We instantly knew they were needed to complete our stellar team working at the forefront of combatting these diseases.”
Before adding, “We wished we found them sooner!”
Originally from Canada, Dr Battersby was recruited to the University of Helsinki as a principal investigator to join FinMIT, an Academy of Finland Centre of Excellence on mitochondrial disease research (2008-2013; 2014-2019).
The scientific mission of the Battersby Lab is to understand the molecular mechanisms regulating expression of the mitochondrial genome in human health and disease. Their research goal is to discover why there is such a diversity of clinical presentations and to develop effective treatment approaches for patients.
Over the last decade, the Battersby Lab has made pioneering discoveries that have uncovered distinct regulatory mechanisms for mitochondrial gene expression linked to these diseases and have identified promising targets for therapeutic intervention. The lab has held a long-standing interest in C12orf65 deficiency, having developed animal models to understand the molecular and cellular processes linked to the disease.
Dr Battersby was inspired by the dedication of the HNF and the Fighter Moms, noting the significant impact they have had as mobilisers and facilitators of scientific progress.
“They put me in touch with colleagues in the US and the UK who were working on the same issue, but from different perspectives enabling us to advance our collective research efforts. It is through international collaboration that progress will be made.”
Dr Battersby ended his remarks by stating, “The best people will always find a way of meeting each other.”
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