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4 Headlines D r Sarah Schonberger is the Neurological Foundation’s Head of Research. She says while only a handful of Kiwis may have a particular disorder, New Zealand-based research is part of a global effort to find treatments and cures. “New Zealand’s medical research is highly regarded, and our funding has helped our neuroscientists develop specialisations in some of the rarest neurological disorders, including Batten disease, Sydenham’s chorea and Charcot-Marie-Tooth disease. “Rare disorders can be difficult to diagnose and difficult to manage as there are limited treatments available, so this research is vital for patients,” says Sarah. “There is also a huge benefit in locally-based research as it can give New Zealand patients access to international clinical trials.” But there is a bigger picture too. Rare disorder research helps us to understand more common conditions, and the roles genes play in disease. “Many rare disorders are caused by a single genetic mutation, so identifying this mutation actually identifies what role that gene plays in the body, and these genes are often found to be involved in more common conditions,” says Sarah. “For instance, Dr Ellen Sidransky observed that patients with Gaucher disease also developed Parkinson’s disease (PD). This led them to discover that the genetic mutation associated with Gaucher disease was a risk factor for PD, that had not been previously discovered.” Where to find support Rare Disorders New Zealand is the national peak body organisation supporting all New Zealanders who live with a rare disorder and the people who care for them. There are over 7000 known rare disorders, with almost half being neurological. Individually, rare disorders occur in very small numbers in the population, but collectively, they are estimated to affect 300,000 people in New Zealand. Regardless of the specific disorder, those affected largely share the same challenges and systemic barriers – lack of timely diagnosis, poor treatment access, lack of access to modern medicines, lack of coordinated care, isolation, significant carer impact and, for many, being ‘lost in the system’. Rare Disorders NZ can help patients navigate the healthcare system and find relevant information and resources. They can also connect people with support groups specific to their condition. With a collective of over 150 support groups, Rare Disorders NZ is able to provide a strong common voice to advocate for public health policy and a future healthcare system that works for those with rare disorders – collaborating with Government, clinicians, researchers and industry experts to promote diagnosis, treatment, services and research. After years of advocating, Rare Disorders NZ now has the Government's commitment to the development of New Zealand's first Rare Disorders Strategy and is working closely with Manatū Hauora – the Ministry of Health on this. Rare Disorders NZ would like to see the establishment of a rare and undiagnosed disorders centre of expertise in New Zealand as a way to bridge gaps in the delivery of healthcare to people living with a rare disorder. www.raredisorders.org.nz Rare and meaningful “There is a misconception that not many people have rare disorders, but neurological rare disorders affect around 150million people worldwide.” References The Lancet Neurology. Rare diseases: maintaining momentum. Lancet Neurol. 2022;21(3):203. Hertz E et al. Rapid-onset dystonia and parkinsonism in a patient with Gaucher disease. J Mov Disord. 2023;16(3):321-324. Research into rare neurological disorders is vital for the families affected, and to advance our understanding of neurological conditions as a whole. On the following pages we focus on some of the incredible rare disease research happening right now in New Zealand.