Rare Diseases Now (RDNow)
- Project status: Active
Research area: Genomic Medicine > Rare Disease Discovery
RDNow is an exciting initiative that provides genomic diagnoses and personalised care to children at The Royal Children’s Hospital (RCH).
These images were drawn by children and adolescents participating in the RDNow program. We are grateful to the young people who shared expressions of themselves during their genetic counselling appointments for testing through RDNow.
Image caption: "This is me with my family."
These images were drawn by children and adolescents participating in the RDNow program. We are grateful to the young people who shared expressions of themselves during their genetic counselling appointments for testing through RDNow.
Image caption: "
These images were drawn by children and adolescents participating in the RDNow program. We are grateful to the young people who shared expressions of themselves during their genetic counselling appointments for testing through RDNow.
Image caption: "This is me with my family."
The challenge
One in 12 babies is born with a rare disease, affecting over 15,000 Australian newborns each year. Despite advances in genomic testing, half of all children with a rare disease still do not receive a genetic diagnosis, and even fewer have access to targeted treatments.
An early and accurate genetic diagnosis can end the “diagnostic odyssey” for families. It helps clarify what to expect, guides clinical management by avoiding unnecessary and invasive tests, and can improve outcomes by identifying any available targeted therapies.
Image caption: "I'm at the playground!"
Image caption: "My pet is taking a photo of me with the people who care for me".
About RDNow
RDNow helps children by providing an advanced diagnostic pathway for those who remain undiagnosed after clinical genomic tests that are used to investigate complex health and developmental conditions. RDNow uses advanced analysis tools to re-analyse exome and/or genome sequencing information. RDNow opens an avenue to access advances in multi-omic technologies such as long-read genome sequencing, transcriptomics and proteomics. This gives these children the best chance of receiving a diagnosis and accessing the latest clinical trials and treatments.
Our vision
To enable all people living with a rare disease the opportunity to receive a precise diagnosis, optimal care and access to innovative research and available therapy.
Our key priorities
- Offering hope for undiagnosed genetic conditions at Melbourne Children’s Campus through advanced genomic and multi-omic testing.
- Investing in a scientific and patient-support workforce to solve rare genetic conditions.
- Developing a campus-wide registry to track rare disease progression, connect families to clinical trials and build supportive communities.
- Fostering a patient-centred, streamlined program that engages RCH departments and research teams to meet the needs of those with undiagnosed rare diseases.
These initiatives are informed by family engagement and will accelerate discoveries and improve outcomes for children with rare genetic conditions.
How to get involved
RDNow is a pathway for families to participate in studies that improve their care and support while expanding our knowledge of rare conditions.
Children who are patients at The Royal Children's Hospital (RCH) and remain undiagnosed after a genomic test can contact their RCH doctor or genetic counsellor to discuss eligibility for RDNow.
Image caption: "I decorated my hospital room with paintings and wanted to share this sparkling fairy dress."
Collaborations & funding
RDNow brings together the expertise of the Murdoch Children's Research Institute (MCRI) and Victorian Clinical Genetics Services (VCGS).
We collaborate with a number of external groups including:
This program is funded by:
- The Royal Children's Hospital Foundation
- Fox Family Foundation
- Andrew and Geraldine Buxton Foundation
- Pierce Armstrong Foundation
More information
Contact us
For more information on the RDNow program, please contact us.
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