Centre for Brain Research


Neurogenetics Research Clinic

Working together to improve lives

About our 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. 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 symptom 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.

Research appointments at our 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
  • Occupational Therapist

If you have a neurogenetic condition, and would like to learn more about the Centre for Brain Research Neurogenetics Research Clinic, please contact the coordinator:

Phone: 09 923 8652
Email: cbr.nrc@auckland.ac.nz

Top

Current Research Studies at the Clinic


  • Clinical Trial for Pompe Disease
  • Friedreich’s Ataxia Clinical Outcome Measures Study (FACOMS)
  • Observational Study for Inherited Ataxia
  • SpeechATAX – At-home, app-based speech and language therapy in collaboration with the University of Melbourne
  • Use of ultrasound to investigate nerves in people with neuromuscular conditions

Links


Living Well with Ataxia

Together with the Muscular Dystrophy Association of New Zealand and the Duncan Foundation, we recently hosted an information day for people living with ataxia. We were very proud to present up to date information about Ataxia diagnosis, treatments and research.
Associate Professor Richard Roxburgh, Miriam Rodrigues, Julie Rope, Christine Tooke and Karen Spray all gave talks and these presentations can be viewed here:

Team members


Richard Roxburgh

Associate Professor Richard Roxburgh - Principal Investigator

Dr Richard Roxburgh is a neurologist at Auckland City Hospital and is an Associate Professor at the University of Auckland. He specialises in seeing patients with neurogenetic disease.

One of his major research roles has been the establishment (together with the Muscular Dystrophy Association of New Zealand) of the New Zealand Neuromuscular Disease Registry (of which he is principal investigator). The registry is five years old and has recruited over one thousand patients, enabling more than half of then to participate in research studies.

His principal motivation is to have enough information available on New Zealanders with neuromuscular conditions so they are “trial ready” for research and treatment trials.

View Richard's full profile.

Julie Rope

Julie Rope – Co-investigator and Neurophysiotherapist

Julie Rope is a Senior Neurological Physiotherapist with more than 20 years of clinical experience in the UK and New Zealand. She has a passion for supporting the rehabilitation needs of those with neurological conditions and as such founded Rope Neuro Rehabilition in 2006 with the vision of creating a neurological clinic supporting the rehabilitation needs of the neurological population. Julie is also the National Clinical Lead and a Trustee for the Duncan Foundation, which has a vision for New Zealanders with neuromuscular conditions to live to their maximum physical potential by providing new and essential clinical services to improve the lives of New Zealanders with neuromuscular conditions. She strives to develop solid resources to guide clinical treatment and management needs of this population while supporting medical and health professionals. Through the support of the Duncan Foundation, Julie is lending her extensive experience to the CBR Neurogenetics Research Clinic Team.

Tony Antunovich

 

 

Dr Tony Antunovich – Study Doctor

Tony Antunovich is a doctor with more than 30 years’ experience as a General Practitioner and he has a particular interest in neuromuscular conditions. We are delighted to have him join the team as a study doctor for the Clinic.

Kay Yeoman

 

 

Kay Yeoman

Kay Yeoman is a Registered Nurse who has many years of experience as a study coordinator for clinical research and clinical trials of new medicines. Kay is currently the study coordinator for two clinical trials that are running within the research group, both for new treatments for Pompe Disease.  

Rachael Taylor

 

Dr Rachael Taylor – Audiologist

Rachael Taylor is an Audiologist and Research Fellow in the Department of Physiology at the University of Auckland. She has a special interest in the vestibular system, which controls our sense of motion, head position, spatial orientation and balance, and how these systems can be dysfunctional in people neurological conditions.  

Christine Tooke

 

 

Christine Tooke - Neurophysiotherapist

Christine Tooke works with Julie Rope as a Senior Neurological Physiotherapist. She completed her training at the University of Birmingham in the UK and now calls New Zealand home. Christine has gained experience with a variety of complex neurological conditions and has a particular interest in vestibular rehabilitation and neuromuscular conditions.

Nicola Merrilees

 

 

Nicola Merrilees – Occupational Therapist

Nicola Merrilees is a Senior Occupational Therapist with Rope Neuro Rehabilitation. She has a wealth of experience working in acute care, neurology and rehabilitation in hospitals, in the community and in private.  

Karen Spray

 

Karen Spray – Study Coordinator and Speech and Language Therapist

Karen Spray is a Speech and Language Therapist who can usually be found using the LSVT LOUD treatment therapy in her practice Loud and Clear Speech Therapy. Karen is currently the study coordinator for the SpeechATAX study which aims to trial an at-home, app-based speech therapy program for people with speech changes due to inherited ataxia.

Luciana Pelosi

 

 

Dr Luciana Pelosi

Luciana Pelosi is a Neurologist who specialises in neurophysiology. She has a special interest in investigating the use of ultrasound as a diagnostic tool for use in neuromuscular disease.

Gina O'Grady

 

 

Dr Gina O’Grady

Gina O’Grady is a Paediatric Neurologist at Starship Children’s Hospital. We are excited to have Gina be a part of the research team as we look to involve children as participants at the Clinic.

Kerry Walker

 

 

Kerry Walker – Senior Research Coordinator

Kerry Walker is the Manager of the CBR Neurogenetics Research Clinic. She uses her experience in clinical research to bring together this team of researchers to meet the goals of the studies.

Miriam Rodrigues

 

 

Miriam Rodrigues - PhD candidate

Miriam Rodrigues is a Genetic Counsellor and Manager of the New Zealand Neuromuscular Disease Registry. She is also a PhD candidate working within the study team.  

Ouday Almoukdad

 

Ouday Almoukdad – BMedSci (Hons) Student

Ouday Almoukdad is a medical student who is taking time out from his MBChB studies to work towards a Bachelor of Medical Science (Honours) degree. He is completing his research project within the CBR Neurogenetics Research Clinic team.

 

 

Publications


For a full list of publications, visit Richard Roxburgh's staff profile.