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20 Genetic research with lasting impact When a child is diagnosed with a rare genetic condition, families are given vital information about what the future may hold for the child, the family and any future siblings. It can also open up support networks, including Facebook groups for sharing experiences with others, and better access to therapy that could aid a child’s development. New families continue to be enrolled in the team’s existing studies. Once diagnosed with a gene that’s already recognised, these children can access more personalised care and support. If a new disease gene is found, Associate Professor Bicknell uses overseas connections to include international families in the study, broadening impact across multiple countries. With support from the Neurological Foundation, the team has already identified 10 novel disease genes – and counting. This work is a true collaboration between families willing to be involved in the research, staff and students in the lab who work hard to confirmfindings, and an international community of patients and experts. “Adiagnosis is incredibly powerful, andwe’re privileged tobe able to help these families using our specific expertise. Our passion is tobe able to helpboth clinicians and families, often in a global context.” Associate Professor Louise Bicknell, University of Otago The lives of 11 families have been transformedwith a diagnosis that could only have been reached through pioneering genetic research. Andwith another Neurological Foundation project grant of $298,194 this year, Associate Professor Louise Bicknell and her teamat the University of Otago hope tomake evenmore impact – not just here, but around theworld.

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