New Horizons: The New Zealand Rare Disease Day Symposium
NZORD hosted a one-day symposium for Rare Disease Day 2018 on 22 February in Auckland. The aim was to bring together clinicians and people living with rare disorders to share information and experiences – enabling clinicians, researchers and patients to work together for the best health gains.
Speakers’ presentations
- Dr Callum Wilson, metabolic paediatrician, Starship Children’s Hospital
Development of metabolic paediatric service, the future direction of this service and the role it plays in newborn screening - Dr Fraser Burling, internal medicine physician & rheumatologist
A new toolkit for diagnosis and management of hypermobility and Ehlers–Danlos syndromes in New Zealand - Dr Buzz Burrell, GP
Poppy’s personal journey with Kearns–Sayre syndrome - Dr Stephanie Hughes, Department of Biochemistry, University of Otago
Case study in research that uses alternative treatment to combat CLN6 Batten disease - Professor Mike Eccles, NZ Institute for Cancer Research Trust
Case study in research focusing on the genetics and epigenetics of cancer and kidney diseases in childhood - Minnie Baragwanath, CEO and founder of Be.Accessible
Shifting from disability to possibility - Tara Morrison, President of Homocystinuria Australia
How one parent’s journey after diagnosis led to the formation of a disease-specific patient organisation
Please note that the following presentations are not available by request of the speakers due to confidential content:
- Professor Stephen Robertson, Cure Kids Professor of Paediatric Genetics, Otago University
Evolution of genetics, in particular the generation of malformations in children, with a particular focus on conditions that affect the skeleton and brain - Dr Andrew Munkacsi, Senior Lecturer, Victoria University of Wellington
Developing a genomic superhero pipeline to cure rare Mendelian diseases
