New Horizons: The New Zealand Rare Disease Day Symposium, Programme and Speakers
- Thursday 22 February 2018
- Ernest & Marion Davis Lecture Hall, Auckland City Hospital (Auckland City Hospital on Google Maps; map of Auckland City Hospital campus (pdf))
- Venue is wheelchair accessible. A lift is available.
Welcome by Dr Collette Bromhead, NZORD Chief Executive|
MC – Dr Buzz Burrell
|9.30–10.00||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
|10.00–10.30||Dr Fraser Burling, internal medicine physician & rheumatologist – bio|
A new toolkit for diagnosis and management of hypermobility and Ehlers–Danlos syndromes in New Zealand
|11.00–11.30||Dr Buzz Burrell, GP – bio|
Poppy’s personal journey with Kearns–Sayre syndrome
|11.30–12.00||Professor Stephen Robertson, Cure Kids Professor of Paediatric Genetics, Otago University – bio|
Evolution of genetics, in particular the generation of malformations in children, with a particular focus on conditions that affect the skeleton and brain
|12.00–12.30||Dr Stephanie Hughes, Department of Biochemistry, University of Otago – bio |
Case study in research that uses alternative treatment to combat CLN6 Batten disease
|1.30–2.00||Professor Mike Eccles, NZ Institute for Cancer Research Trust – bio|
Case study in research focusing on the genetics and epigenetics of cancer and kidney diseases in childhood
|2.00–2.30||Minnie Baragwanath, CEO and founder of Be. Accessible – bio|
Shifting from disability to possibility
|3.00–3.30||Tara Morrison, President of Homocystinuria Australia – bio|
How one parent’s journey after diagnosis led to the formation of a disease-specific patient organisation
Tara is kindly sponsored by Emerge Health
|3.30–3.45||Dr Andrew Munkacsi: Senior Lecturer, Victoria University of Wellington – bio|
Developing a genomic superhero pipeline to cure rare Mendelian diseases
Minnie Baragwanath is the CEO and founder of Be. Accessible – a social change agency shifting Aotearoa from disability to possibility. Minnie believes New Zealand can become a thought-leader, a visionary, and a global powerhouse in access innovation. She envisions a thriving nation whose leaders, thinkers, and makers are embracing the opportunities accessibility presents.
Minnie has a BA in English Literature, a Bachelor of Communications Studies, and a Graduate Diploma in Economic Development. Minnie was a recipient of the Sir Peter Blake Leadership award in 2013, became a Member of the New Zealand Order of Merit in 2014 and was placed as a top 10 finalist for the 2017 Kiwibank New Zealander of the Year Award. She won a 2017 Women of Influence Award in the diversity category and is a Leadership New Zealand alum.
Dr Fraser Burling
Dr Burling is an internal medicine physician and rheumatologist. He joined the Rheumatology and Musculoskeletal Clinic in Auckland in 2006. He has a particular interest in Ehlers–Danlos syndrome, which grew from his interest in chronic soft tissue injuries. Treatment of chronic work and sports injuries and occupational overuse problems, such as injuries to the back, neck, shoulder, elbow, wrist, pelvic girdle, knee, and foot. He was in New York for the conference at which the current New York criteria was defined. He now has over 170 patients with Ehlers–Danlos syndrome.
Dr Buzz Burrell
Dr Burrell qualified in medicine in the UK in 1986, and joined the physician training program then gained Membership of the Royal College of Physicians of Ireland in 1991. After moving to New Zealand, he became a Fellow of the Royal NZ College of GPs and then Fellow of the Division of Rural Hospital Medicine NZ.
When Buzz is not enjoying playing on his small hobby farm, he’s a semi-rural GP in the General Practice he established in Renwick, 10 km outside Blenheim. He’s a regional coordinator for the Rural Medical Immersion Programme; and the GPSI for the Chronic Pain service in Nelson. Buzz is also a GP College registrar trainer and examiner, and senior lecturer with the University of Otago, and working with Curtin University Western Australia on a novel flow meter for asthmatics.
Professor Mike Eccles
With a background in biochemistry and genetics, Dr Mike Eccles has been the NZ Institute for Cancer Research Trust Professor in Cancer Pathology at the University of Otago since 2006. He was a Fogarty International Scholar at Princeton University’s Department of Molecular Biology (1987–1989), and a James Cook Research Fellow in the Biochemistry and Pathology Departments at the University of Otago (2000–2002). His laboratory, which presently consisting of three research fellows, two research assistants, and four post-graduate students, is focused on the genetics and epigenetics of cancer and kidney diseases in childhood.
Associate Professor Stephanie Hughes
Dr Hughes is a Senior Lecturer in the Department of Biochemistry and Deputy Director of the Genetics Teaching Programme at the University of Otago, Dunedin. Her research focuses on Batten disease, a group of rare childhood neurological disease and the role of the cellular recycling system in these diseases.
Tara Morrison is director and chair of HCU Network Australia. Her connection to this disorder is a personal one: her two sons were diagnosed with classical homocystinuria at ages five and one years. At the time of diagnosis, the Morrison family were left with many unanswered questions. Their response has been to try and change this experience for others.
In 2014 Tara founded HCU Network Australia and serves voluntarily as Director and Chair of the Board. She is eager to utilise her personal and professional experience to achieve real outcomes for individuals affected by the disorder and their families. She was an author on the guidelines for the diagnosis and management of cystathionine beta-synthase deficiency and has co-convened the first and second international homocystinurias patient-expert meetings in Prague and Brazil.
Tara has practised as a lawyer in general practice for over 10 years and holds a double degree in law and arts. She is a solicitor admitted in NSW and the High Court of Australia.
Dr Andrew Munkacsi
Trained at Columbia University Medical Center and the University of Minnesota, Andrew Munkacsi is a Senior Lecturer at Victoria University of Wellington. He is a translational research scientist using high-throughput genomic, lipidomic, and metabolomic approaches to investigate human disease and human nutrition. The overall objective within his laboratory is to identify novel targets to treat the defective transport of lipids in rare human diseases, notably the defective transport of cholesterol and sphingolipids in the paediatric neurodegenerative Niemann-Pick type C disease.
Professor Stephen Robertson
Stephen has been the Curekids Professor of Paediatric Genetics at Otago University since 2003. He studied medicine and specialised in pediatrics and then subspecialised in clinical genetics. From 1999 to 2002 he was Nuffield Medical Fellow at the Institute of Molecular Medicine at Oxford University, studying the genetic basis of a set of genetic disorders characterised by severe life-limiting malformations in children. His work in this area has led to the implication of several genes, in the generation of malformations in children, with a particular focus on conditions that affect the skeleton and brain. He was awarded the Health Research Council’s Liley Medal for outstanding contributions to medical research in 2010. Stephen continues to be an active clinician, staffing clinics throughout the South Island, in addition to teaching genetics to science and medical students in Dunedin.
Kindly supported by