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12 Headlines GENETICSMAY Dr Emma Scotter is head of the Motor Neuron Disease Lab at the University of Auckland. She has received $234k from the Neurological Foundation to extend a genetic study involving 32 New Zealand families with a history of MND. What is motor neuron disease? MND is a rare, highly challenging and ultimately terminal condition, with an average life expectancy of between three to five years. More than 400 people in Aotearoa live with MND at any one time, and three people are diagnosed each week. The rate in New Zealand is higher than the international average – although it is not known why. MND causes the death of the nerve cells (neurons) that control the muscles that enable us to move, speak, swallow, and breathe. With no nerves to activate them, these muscles gradually weaken and waste away. This causes progressive loss of mobility in the limbs, and difficulties with speech, swallowing, and breathing. One of the most well-known people with MND was the theoretical physicist Stephen Hawking, who defied the odds by living 55 years with the disease, partly due to a relatively young onset at age 21. MND is usually diagnosed after the age of 50 and most commonly affects those between the ages of 75 to 79. Who provides support for Kiwis with MND? Support and advocacy for those with MND in Aotearoa is provided by Motor Neurone Disease New Zealand (MND NZ). The charity also funds research that complements the work of the Neurological Foundation. Notably, it helps to maintain the New Zealand MND Registry, a collection of demographic, clinical, and genetic information of people with MND in New Zealand. The registry is run by Associate Professor Richard Roxburgh from the Neurology Department at Auckland City Hospital. Having this comprehensive registry helped New Zealand to secure access to the Lighthouse II trial, which is testing an anti-retroviral therapy for MND patients. The Neurological Foundation and MND NZ are co-funding the trial in New Zealand. Read more on page 14. The registry also provides valuable information to guide the development of support services. Recently, MND NZ published the first-ever New Zealand-based best practice recommendations, a significant milestone for standardising and promoting world-class MND clinical care across New Zealand. To find out more about MND NZ’s vital work visit mnd.org.nz There are two accepted spellings for MND – motor neuron disease, and motor neurone disease. In the United States, MND is more often referred to as amyotrophic lateral sclerosis or ALS. O ne outcome will be to help those families discover where their MND gene originated and how it was passed down. Another aim is to explore if families with the same MND gene have similar features of the disease. For the last three years, the Scotter Lab has run a study funded by Marcus Gerbich and Dr Amelia Pais Rodriguez, Motor Neurone Disease New Zealand, and the Freemasons Foundation of New Zealand, characterising the genetics of people with MND in New Zealand. With New Zealand reporting the highest rate of MND in the world, researchers are particularly interested in whether genetics is a contributing factor. “International studies suggest that 5 to 10% of MND runs in families, but in our genetics studies nearly one-third of NZ participants were from MND families. This suggested to us that MND families are highly motivated to engage with our research; they dearly want answers. This study brings the focus of our research to those families to understand their MND gene, the origins of that gene in their family tree, and the unique features of their family’s disease.” To conduct the new study, families with MND, many of whom have already worked with the Scotter Lab, will be invited to submit DNA and genealogical (family tree) information. The genealogical information will explore who in the family had the disease, at what age they died, and from which city and country they originated. The DNA will be sent to collaborators led by Dr Kelly Williams at the University of Macquarie in Sydney, who will conduct comparisons of genetic ‘chunks’ to find distant relatives, thereby extending family trees across international borders. Spotlight on MOTOR NEURON DISEASE