Rare diseases under the microscope at Macarthur Symposium

The Symposium will be held at the Macarthur Clinical School

International experts in the fields of immunology will assemble for the Macarthur Rare Disease Symposium on 6 October 2017.

Co-hosted by Western Sydney University, the Macarthur Clinical School, Campbelltown Hospital and The Australasian Mastocytosis Society (TAMS), the Symposium will explore the latest research and treatments for rare conditions such as Mastocytosis, Mast Cell Activation Disorder and Hereditary Angioedema.

The convenor of the Symposium, Connie Katelaris, is Professor of Immunology within the University’s School of Medicine and Head of the Immunology Department within Campbelltown Hospital.

Professor Katelaris says it is important to raise awareness of diseases – such as Hereditary Angioedema and Mastocytosis – as their rare occurrence means that doctors are often unaware of the symptoms.

“Hereditary Angioedema is an extremely distressing and debilitating disorder, which results in the recurrent attacks of severe swelling – often causing abdominal pain or swelling in the arms, legs and face,” says Professor Katelaris.

“The average time between onset of the condition and diagnosis is nine to ten years – because doctors often mistake the swelling for an allergic reaction.”

Another rare and potentially devastating condition is Mastocytosis – which encompasses a spectrum of disorders that include a benign skin condition to rare forms of leukaemia. Patients with Mastocytosis are at risk of anaphylaxis, a severe allergic reaction.

Professor Katelaris says new treatments for Hereditary Angioedema and Mastocytosis have become available in the last few years, and research is bringing forth new methods of prevention. However sufferers will not benefit from scientific advancements unless doctors identify the symptoms and make an accurate diagnosis.

International experts in the field of Immunology – who each have a special interest in these rare conditions – will share the outcomes of their latest research at the Symposium.

The eminent speakers will include:

  • Dr William Lumry, Allergist, Clinical Professor of Internal Medicine, Southwestern Medical School in Dallas, University of Texas: New directions in prophylaxis – the 830 trial and the pipeline
  • Dr Clive Grattan, Consultant Dermatologist, Norfolk and Norwich University Hospital and St John's Institute of Dermatology, London, UK: Spectrum of mast cell disease – Mast cell activation disorders and mastocytosis
  • Maria Traversa, Senior Scientist: GENEA - Genetic screening and pre implantation Dx
  • Dr Graham Mackay, Senior Lecturer, Department of Pharmacology and Therapeutics, University of Melbourne: Mast cell biology and activation pathways
  • Associate Professor Stephen Fuller, Clinical Haematologist, Nepean Hospital: Systemic mastocytosis – the haematologist’s view
  • Dr Li-Chuen Wong, Consultant Paediatric and Adult Dermatologist: Cutaneous mastocytosis – paediatric practice
  • Dr Anthony Roberts, Senior Scientist Assay Innovation and Clinical Translation, CSL Limited: Hereditary Angioedema – Kallikrein biochemistry and related pathways in HAE – future directions
  • Professor Connie Katelaris, Professor of Immunology, School of Medicine, Western Sydney University: Angioedema and its many forms.

Western Sydney University Vice-Chancellor, Professor Barney Glover – who is also President of the Rare Diseases Association – will be delivering the opening address.

WHAT: Macarthur Symposium - Rare Disease Day
WHEN: 9am-4pm, Friday 6 October 2017
WHERE: Macarthur Clinical School, Therry Road, Campbelltown


28 September 2017

Danielle Roddick, Senior Media Officer