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family, and one goal TERIES OF MOTOR A New Zealand family carrying a rare genetic mutation that causes motor neuron disease (MND) made an extraordinary contribution to scientific research a few years ago by donating cells and brain tissue to the University of Auckland’s Centre for Brain Research. T he lab of Associate Professor Emma Scotter, a world-leading expert on MND, is using cell and brain tissue donated by a family with a rare form of MND to understand how the gene mutation they carry triggers the disease. It is also providing incredible opportunities for emerging MND researchers. Dr Kyrah Thumbadoo (29), who is mentored by Emma, received the prestigious Dawn Fellowship from the Neurological Foundation late last year, guaranteeing her three years of precious funding to utilise the tissue for genetic studies. MND is a devastating neurological condition that rapidly erodes motor function, ultimately proving fatal. While most cases appear sporadically, an estimated 15% are genetically inherited. “There's still a lot we don’t understand about how MND develops, progresses, and how best to treat it – especially in rare genetic cases,” Kyrah says. “Unlike cases that happen randomly, these inherited forms give us a chance to study the specific genes involved, helping us connect basic research to potential treatments.” Kyrah is using stem cell technology to grow new motor neurons from the donated samples. One of her aims is to understand why men who inherit the faulty gene, and develop MND, experience symptoms roughly 20 years earlier than women. She will cross-reference her findings with healthy human brain tissue from the Neurological Foundation Human Brain Bank. Another outstanding young researcher in the Scotter lab is Miran Mrkela (29), who has received a Neurological Foundation First Fellowship. Having two Neurological Foundation fellows in the same lab is rare, highlighting the research’s potential impact and the talent of young MND researchers in New Zealand. Miran’s research is also genetic and focuses on ‘variants of uncertain significance’ or VOUS. They are the faulty genes that scientists suspect cause MND, but don’t yet have the robust evidence to prove it. Rapid advances in genomic sequencing technologies are changing this. “If we can reclassify any of these uncertain variants as causative, this will enhance genetic screening, counselling and inform family planning decisions for individuals affected by MND,” says Miran. Another benefit will be a ‘cellular pipeline’ to investigate new VOUS as they are discovered. “The road of research is a never- ending journey, and I fully expect to still be chasing down elusive genetic answers and troubleshooting experiments for many years to come,” he says. Alongside the Fellowships, the Neurological Foundation has provided funding for the fundamental study in the Scotter Lab – ‘Family Studies in Motor Neuron Disease’. Miran also acknowledged the Stevensons Fellowship, which provided critical financial support between the handing-in of his PhD and the start of his Fellowship. Kyrah acknowledged the amazing “crowd of supporters” who have backed her alongside the Neurological Foundation, including MND NZ*, Amelia Pais-Rodrigues and Marcus Gerbich, Freemasons Foundation of New Zealand, Matteo de Nora, and PaR NZ Golfing Holidays. *Motor Neurone Disease New Zealand is a charity that helps people affected by MND by offering personal support, advocacy, education and supporting research. Visit mnd.org.nz. “There's still a lot we don’t understand about howMND develops, progresses, and how best to treat it.” Dr Kyrah Thumbadoo Headlines 19