Neurogenetics Research Clinic

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.

The Neurogenetics Research Clinic was established to advance clinical care and rehabilitation in neurogenetic disease. To achieve this we’ve partnered with the Duncan Foundation.

Our first aim is to contribute to the development and validation of clinical outcome measures in collaboration with international colleagues. We need to have reliable measures of changes in symptoms so that when a treatment becomes available to be tested in a clinical trial, we can reliably measure if it is causing an improvement or not.

Our second aim is to provide a coordinated review of a patient’s rehabilitation needs across disciplines including physiotherapy, occupational therapy, orthotics, speech and language therapy and seating. We want to build on our expertise within the research team and help to spread this expertise throughout New Zealand to ensure implementation of disease-specific and individualised care nationwide.

We also coordinate clinical trials at the Neurogenetic Research Clinic.

At the clinic, we see participants as part of a research study, for observational assessments and evaluations according to their particular neurogenetic condition. During an appointment, a participant may see a variety of experts within our research team, such as Neurologist, Neurophysiologist, Vestibular Audiologist, Neurophysiotherapist, Speech Language Therapist, Genetic Counsellor and Occupational Therapist.

All participants need to be enrolled in Punaha Io the New Zealand Neuro-Genetic Registry and Biobank—this ensures that we can invite you into the study that’s right for you. You can enrol using the contact details provided at the bottom of this page.

• Friedreich’s Ataxia Clinical Outcome Measures Study (FACOMS)
• Observational Study for Inherited Ataxia
• Use of ultrasound to investigate nerves in people with neuromuscular conditions
• Clinical outcome measures and biomarkers in myotonic dystrophy type 1 (END DM1)
• Longitudinal prospective study of spinal muscular atrophy (SMA)
• Finding the Genetic Cause in undiagnosed inherited ataxia
  

Current:

• Pompe Disease
• Mitochondrial myopathies
• Friedreich Ataxia

Upcoming:

• Huntington’s Disease
• Facioscapulohumeral muscular dystrophy
  

• Associate Professor Richard Roxburgh
• Dr Annette Bradley
• Kay Yeoman
• Dr Rachael Taylor
• Dr Luciana Pelosi
• Dr Gina O’Grady
• Miriam Rodrigues
• Ashleigh O'Mara Baker
• Marcelli Coronet
• Andrea Thomas 
• Melanie Doerflinger
  

Duncan Foundation Team

• Julie Rope
• Christine Tooke
• Valerie Yeong
• Jaimee Orellana
• Nicola Merrilees
• Karen Spray