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Headlines 13 The DNA will also be sent for whole- genome sequencing to identify genetic errors shared by all family members with MND, distinguishing those from the many genetic errors any of us may have without consequence. The Scotter Lab will then piece all of the information together to reveal family-specific features of MND. The project will deliver many useful insights. • Establishing which gene is the underlying cause in each family grouping. Of the 32 MND families in NZ already known to the Scotter Lab, 13 carry the most common genetic cause of MND, the C9orf72 gene. Five families have an as-yet-unknown gene. The study will reveal which gene causes the disease in these families. This knowledge can then be shared with other family members who may wish to genetically test for the disease. • Revealing differences in symptoms and disease onset between families with the same genetic error, which might suggest additional genetic ‘modifiers’ of disease. • Identifying people with MND who are unaware they have a family history of the disease, including distant relatives overseas. • Understanding MND genes through collaboration with Māori families. • Revealing if there are lots of small MND families in New Zealand, or a few large, interrelated families that overlap. Overall, the study will connect MND families in NZ with research and genetic services, enabling earlier diagnosis and access to gene-specific treatments. OLD ANSWERS FOR KIWISWITHMND Researchers fromtheScotter Lab. Dr EmmaScotter is second from left, back row. There is no cure for motor neuron disease (MND), but there is hope that new treatments could slow its progression and extend lives. In this issue we bring together the advances being made right here in New Zealand to improve the outlook for people with MND. In our latest grant round we awarded funding to two projects that are working directly with patients and their families. “With New Zealand reporting the highest rate of MND in the world, researchers are particularly interested in whether genetics are a contributing factor."
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