Rare Disease Day 2017: With research, possibilities are limitless

Rare Disease Day took place on Tuesday – and this year, the focus was firmly on research.

Rare Disease Day at Garvan

01 March 2017

Every year, Rare Disease Day provides an opportunity to focus the community’s attention on rare diseases – disorders that, individually, affect less than 1 in every 10,000 people. Most affect children and continue throughout life. Taken together, rare diseases affect up to 10% of the population[1].

Medical research is crucial to providing those with rare disease the answers and solutions they need – whether it's a treatment or improved care, or even a cure.

Rare diseases are a key focus of medical research at Garvan. Our researchers investigate the underlying basis of diverse types of rare disease – from rare cancers such as sarcomas, to immune disorders that affect a vanishingly small number of individuals worldwide, and rare disorders of cholesterol metabolism.

In addition, Garvan’s researchers work to speed the diagnosis of rare disease through whole genome sequencing – and in July 2016, Garvan launched Genome.One, an Australian-first clinical whole genome sequencing service that aims to triple the diagnosis rate for Australians living with rare and genetic conditions.

Every day, we're motivated by the knowledge that medical research can change the lives of individuals with rare disease – and every day, we strive to uncover new diagnostic and treatment approaches and to move these towards the clinic.

We were proud to join with Genetic Alliance Australia on Rare Disease Day to reflect on this year’s slogan – “with research, possibilities are limitless” – and to bring it to life on Garvan’s iconic helical staircase.


[1] Rare Disease Day Australia: rarediseasedayaustralia.com.au