Rare Diseases Now - Great care for rare

Research Opportunity
PhD students
Department / Centre
Royal Children’s Hospital/Murdoch Childrens Research Institute
Primary Supervisor Email Number Webpage
Prof Tiong Tan tiong.tan@vcgs.org.au 9936 6576 Personal web page
Co-supervisor Email Number Webpage
A/Prof Sue White sue.white@vcgs.org.au 8341 6201
Prof John Christodoulou john.christodoulou@mcri.edu.au 8341 6201

Summary Rare Diseases Now - Great care for rare

Project Details

Rare diseases individually affect fewer than 1 in 2,000 births, but collectively they are common - over 5,000 patients are seen on the Melbourne Children's campus for rare disease diagnosis each year. Nationally, more than 15,000 Australian children born each year will have a shortened lifespan or experience disability due to a rare disease. About 80% of rare diseases are of genetic origin and they are estimated to cause 35% of deaths in children before one year of age, and up to 20% of paediatric hospital admissions worldwide. Despite genomic testing, the majority of children with a rare disease do not receive a genomic diagnosis and even fewer receive impactful interventions.

At the beginning of 2020, the MCRI Rare Disease Flagship received almost $2M over three years from the Royal Children's Hospital Foundation for Rare Diseases Now (RDNow), an exciting initiative to deliver genomic diagnoses and precise, personalised care to RCH families. Drawing on the research and clinical expertise at the MCRI and VCGS, RDNow will engage with non-genetics specialists within RCH to establish a campus-wide framework for undiagnosed children to have the best chance of receiving a diagnosis and to access the latest clinical trials and treatments.

RDNow seeks an enthusiastic PhD student passionate about rare diseases for a project examining a key question in the rare disease field.  Scope of potential projects includes novel genomic testing methods and analysis strategies, developing pathways for registries to study the natural history of a rare disease and linking to clinical trials and therapies. Qualitative researchers are also welcome to make contact to explore opportunities in this program. The student will address these challenges by being a member of the RDNow team to develop systems to improve access to rare disease diagnosis, linking new discoveries to natural history studies and clinical trials, and facilitate the broadening of genomic expertise into multiple RCH Departments.

This project would suit an individual with a paediatric clinical background or undergraduate, postgraduate, or vocational genetics/genomics experience. A keen interest in rare diseases is essential.  A publication track record in rare diseases or genomics is highly desirable. The successful applicant will develop collaborative relationships with RCH clinicians, MCRI scientists, the VCGS laboratory team and bioinformaticians.

Faculty Research Themes

Child Health

School Research Themes

Child Health in Medicine

Research Opportunities

PhD students
Students who are interested in joining this project will need to consider their elegibility as well as other requirements before contacting the supervisor of this research

Graduate Research application

Honours application

Key Contact

For further information about this research, please contact a supervisor.

Department / Centre


Research Node

Royal Children’s Hospital/Murdoch Childrens Research Institute

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