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JUNE 2022 InTouch | 15 Neurogenetic conditions are considered to be rare and people with neurogenetic conditions often meet health care professionals who have not seen a patient with their condition before. Due to advances in genetic research and technology, treatment options for neurogenetic conditions are now being researched and there is a real possibility of treatments becoming available. At the clinic we coordinate a number of studies, including natural history studies aimed at identifying clinical outcome measures, as well as clinical trials of potential therapies. To attend the clinic, participants need to be enrolled in Punaha Io the New Zealand Neuro-Genetic Registry & Biobank . Enrolment in the Registry ensures that we can invite you into the study that’s right for you. These studies may be underway currently and ready for you to join, or they may be new studies that become available in the future. The clinic’s success and ability to provide support to patients is in part due to the partnerships formed with other organisations in the field. The partnership we have with the Duncan Foundation is vital to the clinic and it allows for the provision of a coordinated review of a person’s rehabilitation needs. The review can span disciplines including physiotherapy, occupational therapy, orthotics, speech and language therapy, and seating as needed. Working with organisations like the Duncan Foundation builds expertise within the research team and helps to spread this expertise throughout New Zealand via opportunities for training clinicians around the country. Together we aim to implement disease-specific and individualised care nationwide. “I appreciated their thoroughness and how they clarified anything I needed help with,” says Sarah*. “It was fantastic that everyone was at the same place at one visit and I didn’t have multi appointments throughout the year, and doctors could talk to each other and consult together.” John* really appreciated the expertise available to him. “I learned a lot of useful information from them thanks to their in-depth knowledge of FA compared to GP’s, physio’s etc. Yes, the referrals and recommendations are great!” “I thought I had no deterioration so I was surprised to find out I had less sensation in my feet,” said another person attending the clinic. “This means I shall take extra care because of poor circulation in my legs.” And, “the session time with the OT and PT were very beneficial”. Up until now, people with inherited ataxias, such as spinocerebellar ataxias and hereditary spastic paraparesis (HSP), had to self-fund to get to the clinic in Auckland. Neuromuscular Research New Zealand and MDANZ have generously provided funding from the Richdale Charitable Trust that will cover travel costs to attend the clinic; no matter where in New Zealand you’re coming from. If you have a neurogenetic condition and would like to learn more about Punaha Io the New Zealand Neuro-Genetic Registry & Biobank or the CBR Neurogenetics Clinic, please contact the coordinator by phone 09 923 8652 or email neurogenetics@adhb.govt.nz . *Names changed RESEARCH The CBR Neurogenetic Research Clinic was established by Associate Professor Richard Roxburgh at the University of Auckland to advance clinical care and rehabilitation in neurogenetic disease. The CBR Neurogenetic Research Clinic