Diagnosing primary mitochondrial disease or ‘mito’ can be challenging due to the wide variety of symptoms and sub-groups. Many experts refer to it as the ‘notorious masquerader’ because it mimics many other illnesses. Join metabolic geneticist Dr Shanti Balasubramaniam to explore the multiple organ systems involved in mito and identify “red flag” symptoms. Paediatric and adult clinical cases will be presented to illustrate how GPs have an important role to play in identifying a suspected diagnosis of mito.
Dr Shanti Balasubramaniam
Dr Shanti Balasubramaniam is a Metabolic Geneticist, the first to be appointed in the state of Western Australia where she headed the Metabolic Service from 2012 to 2015. As the clinical lead of a statewide referral center, she actively participated in several clinical trials geared towards the development of new therapeutic strategies and was also involved in collaborative diagnostic research endeavours with both national and international colleagues. She was privileged to be a member of the Advisory Group for the Western Australian Rare Diseases Strategy, a strategic framework which focussed on advocating rare diseases as a public health priority and in addressing equitable access to healthcare services for the rare diseases community.
Prior to immigrating to Australia in 2011, Shanti worked as a Consultant Metabolic Physician and Clinical Geneticist at the Paediatric Institute, Kuala Lumpur Hospital, the largest national tertiary referral centre for paediatric and adult genetic, metabolic disorders. She obtained her Membership of the Royal College of Paediatrics UK in 2004 and subsequently pursued a subspecialty training in clinical genetics and metabolic medicine. She was awarded a fully funded Public Service Department of Malaysia scholarship to complete her final year of subspecialty fellowship in 2008 at The Children’s Hospital at Westmead, where she trained under Professor John Christodoulou. Shanti is currently attached to the Kids Research Institute at Westmead, Sydney.