Newborn child screening in NICU ward

Two researchers from Murdoch Children’s Research Institute (MCRI) and Victorian Clinical Genetics Services (VCGS) have secured federal funding for projects that aim to improve child health through new genomic newborn screening methods.

Associate Professors Sebastian Lunke and David Godler each received $3 million from the Medical Research Future Fund (MRFF) Genomics Health Futures Mission Grants for their genomics projects.

Associate Professor Lunke will create and trial a new genomic newborn screening model on 1,000 babies, which aims to increase the number of detectable childhood conditions from a handful to several hundred.

“Using a comprehensive testing method called whole genome sequencing, we hope to detect hundreds of childhood conditions which would enable us to help more children faster than currently possible,” he said.  

Associate Professor Lunke said the results of this study would lay the foundation for an innovative future model of genomic newborn screening with national scale and international applicability. 

In partnership with Murdoch Children’s landmark Generation Victoria (GenV) initiative, Associate Professor Godler’s EpiGNs program takes the next step towards an inexpensive genomic addition to current newborn screening programs.

In addition to the conditions currently detectable by newborn screening, such as cystic fibrosis and hypothyroidism, EpiGNs will target eight developmental disorders typically not evident at birth, including Fragile X, Prader Willi, Angelman, Dup15q, Turner, XXY, XXXY and XXYY syndromes.

“Working with GenV enables us to establish ‘real-life’ screening parameters to estimate how common these conditions are in our own population and to compare this program’s likely cost-effectiveness with current costly diagnostic approaches,” Associate Professor Godler said.

Associate Professor Godler said the project would culminate in a fully-developed program that could be implemented universally within 12 months of completion.david godler

Murdoch Children’s researchers are also Associate Investigators on additional MRFF Genomics Health Futures Mission grants. 

These include a $3 million University of Melbourne-led project, under Dr David Stroud. Professors David Thorburn and John Christodoulou will help establish a world-first platform to speed up the diagnosis of rare disorders caused by mutations in a single gene. 

The MRFF grant will help establish RDMassSpec (Mass-Spectrometry Platform for Solving Rare Genetic Disorders), a platform that will work to achieve genomic diagnosis earlier, more efficiently, and at a lower cost to the health care system. It will also augment the precision management of people affected by these disorders, and their families.

Funding

Associate Professor Godler’s work builds on previous work funded by National Health and Medical Research Council project grants (No. 1049299 and No. 1103389); Next Generation Clinical Researchers Program–Career Development Fellowship, funded by the Medical Research Future Fund (MRF1141334); the Foundation for Prader-Willi Syndrome Research, USA (No. 43445 and No. 501393); the Angelman Syndrome Foundation; Victorian Medical Research Acceleration Fund; Foundation for Angelman Syndrome Therapeutics (Australia). Generation Victoria is funded by the Paul Ramsay Foundation, the Victorian Government and the RCH Foundation.

Publication: David E Godler et al 2022. Newborns Utilizing a Novel Genomic Workflow,’ The Journal of the American Medical Association. DOI:  10.1001/jamanetworkopen.2021.41911