Translational Genomics research
Accelerating the implementation of new genomic technologies in healthcare for children and families affected by rare disease
The Translational Genomics research group at MCRI aims to accelerate the implementation of new genomic technologies in healthcare, particularly for the benefit of children and families affected by rare disease.
Our research focus
Our research focuses on two key strategic areas:
- Improving diagnostic outcomes in paediatric rare diseases using genomic, multi-omic, and bioinformatic approaches.
- Implementing new genomic technologies into the healthcare system to enhance patient care.
Our team
We lead and support work across a wide range of disciplines, combining:
- Implementation science
- Psychosocial research
- Health economics
- Translational research
- Clinical and laboratory service delivery
- Technology implementation and validation
This multidisciplinary approach ensures academic excellence and plays a critical role in translating basic research into real-world healthcare impact for patients.
Contact us
Dr Sebastian Lunke, Group Leader
Email: [email protected]
Prof Zornitza Stark, Group Leader
Email: [email protected]
Group Leaders
Group Members
Our projects
Automated reanalysis in rare disease
Iterative re-analysis of genomic data from undiagnosed patients with rare disease, at scale.
In partnership with the Centre for Population Genomics and other national and international collaborators, this project developed an automated tool (Talos) that periodically reanalyses stored genomic data from rare disease patients who remain undiagnosed after initial testing.
Talos has been used to regularly re-examine data from over 5,000 patients across Australia and has delivered new diagnoses to over 350 families and counting.
Read more...
BabyScreen+ - Genomic Newborn Screening
BabyScreen+ is a research study where parents can choose to have their baby’s heelprick sample screened for over 500 additional treatable, childhood-onset conditions. This is called genomic newborn screening. This study is investigating the best way to deliver genomic newborn screening for babies across Victoria.
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GEMSTone Study
IPCHiP is expanding its work on rapid genomic testing to other genetic conditions that could benefit from a prompt diagnosis.
Its next cohort, GEMStone, will focus on newborns with hypotonia, where a baby is born with low muscle tone, which can lead to difficulties in feeding, holding their head up and achieving developmental milestones.
Read more...
PanelApp Australia
A collaborative platform for evidence-based gene and panel curation that supports best practice in clinical diagnostic genomics.
PanelApp Australia is a publicly available knowledge base that allows virtual gene panels related to human disorders to be created, stored and queried. This includes critically appraising evidence for which genes have sufficient evidence for disease association.
It also includes a crowdsourcing tool that allows genes to be added or reviewed by experts, providing an opportunity for input from the clinical, laboratory and research communities.
Read more...Acute care genomics
This five-year project (2018–2023), delivered under Australian Genomics, established a national network of over 60 investigators across 17 sites. The team included clinical geneticists, medical scientists, bioinformaticians, genetic counsellors, educators, implementation scientists, health economists, and bioethicists.
The program performed ultra-rapid genomic sequencing for 450 critically ill babies and children with rare diseases from across Australia, delivering results in just three days. To date, the program has produced more than 35 publications, including major results in JAMA and Nature Medicine, and contributed to the discovery of over 10 new gene–disease associations.
In 2021, the Acute Care Genomics program received two Innovation Australia Awards in the MedTech/Biotech and Research Translation categories. Rapid genomic testing is now in the process of being transitioned to healthcare system funding.
Translational genomics collaborations
We are currently investigators on 22 additional genomics research projects. These studies involve genomic sequencing and analysis to:
- Evaluate genomic testing for specific clinical indications
- Address broader challenges in the implementation of clinical genomics
We are active partners in numerous national and international genomics collaborations, including through:
Funding
Thank you to our supporters:
Collaborations
We partner with leading institutions worldwide, including:
Featured publications
Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia. Peters R, Best S, Lynch F, Vears DF, Downie L, Archibald AD, Lunke S, Stark Z, Goranitis I.Am J Hum Genet. 2025 May 20:S0002-9297(25)00181-8. doi: 10.1016/j.ajhg.2025.05.001. Online ahead of print.PMID: 40441144
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases. Hock DH, Caruana NJ, Semcesen LN, Lake NJ, Formosa LE, Amarasekera SSC, Stait T, Tregoning S, Frajman LE, Bournazos AM, Robinson DRL, Ball M, Reljic B, Ryder B, Wallis MJ, Vasudevan A, Beck C, Peters H, Lee J, Tan NB, Freckmann ML; MitoMDT Diagnostic Network for Genomics and Omics; Karlaftis V, Attard C, Monagle P, Samarasinghe A, Brown R, Bi W, Lek M, McFarland R, Taylor RW, Ryan MT, Cooper ST, Stark Z, Christodoulou J, Compton AG, Thorburn DR, Stroud DA.Genome Med. 2025 May 22;17(1):58. doi: 10.1186/s13073-025-01467-z.PMID: 40400026
Using implementation science to navigate the complexity of integrating genomics into healthcare. Best S, Braithwaite J, Goranitis I, Vears DF, Ferrie M, Gaff CL, Mallett AJ, Boughtwood T, North KN, Stark Z.Nat Med. 2025 Jun;31(6):1739-1742. doi: 10.1038/s41591-025-03588-9.PMID: 40119199
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study. Morton SU, Costain G, French CE, Wakeling E, Szuto A, Christodoulou J, Cohn R, Darras BT, Wojcik MH, D'Gama AM, Dowling JJ, Lunke S, Muntoni F, Raymond L, Rowitch D, Beggs AH, Stark Z, Agrawal PB.Neurology. 2025 Jan 14;104(1):e210106. doi: 10.1212/WNL.0000000000210106. Epub 2024 Dec 19.PMID: 39700446
A guide to gene-disease relationships in nephrology. Stark Z, Byrne AB, Sampson MG, Lennon R, Mallett AJ.Nat Rev Nephrol. 2025 Feb;21(2):115-126. doi: 10.1038/s41581-024-00900-7. Epub 2024 Oct 23.PMID: 39443743
A call to action to scale up research and clinical genomic data sharing. Stark Z, Glazer D, Hofmann O, Rendon A, Marshall CR, Ginsburg GS, Lunt C, Allen N, Effingham M, Hastings Ward J, Hill SL, Ali R, Goodhand P, Page A, Rehm HL, North KN, Scott RH.Nat Rev Genet. 2025 Feb;26(2):141-147. doi: 10.1038/s41576-024-00776-0. Epub 2024 Oct 7.PMID: 39375561
A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability. McCorkell G, Nisselle A, Halton D, Bouffler SE, Patel C, Christodoulou J, Maher F, McClaren B, Brett GR, Sandaradura S, Boggs K, de Silva MG, Lynch F, Macciocca I, Lynch E, Martyn M, Best S, Stark Z, Gaff CL.Genet Med. 2024 Oct;26(10):101224. doi: 10.1016/j.gim.2024.101224. Epub 2024 Jul 30.PMID: 39092589
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Baple EL, Scott RH, Banka S, Buchanan J, Fish L, Wynn S, Wilkinson D, Ellard S, MacArthur DG, Stark Z.Nat Med. 2024 Jul;30(7):1823-1825. doi: 10.1038/s41591-024-03055-x.PMID: 38898121
Genomic newborn screening for rare diseases. Stark Z, Scott RH.Nat Rev Genet. 2023 Nov;24(11):755-766. doi: 10.1038/s41576-023-00621-w. Epub 2023 Jun 29.PMID: 37386126
Integrated multi-omics for rapid rare disease diagnosis on a national scale. Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, Hunter MF, Barnett CP, Wallis M, Kamien B, Tan TY, Freckmann ML, Chong B, Phelan D, Francis D, Kassahn KS, Ha T, Gao S, Arts P, Jackson MR, Scott HS, Eggers S, Rowley S, Boggs K, Rakonjac A, Brett GR, de Silva MG, Springer A, Ward M, Stallard K, Simons C, Conway T, Halman A, Van Bergen NJ, Sikora T, Semcesen LN, Stroud DA, Compton AG, Thorburn DR, Bell KM, Sadedin S, North KN, Christodoulou J, Stark Z.Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8.PMID: 37291213