KidGen: The National Kidney Genomics Program
Principal Investigator: Prof Andrew Mallett
More info: Inclusion criteria & recruitment information
Program summary:
The KidGen National Kidney Genomics Program aims to enhance diagnostic outcomes for patients with Genetic Kidney Disease (GKD) by leveraging advanced genomic sequencing, data analysis, and functional genomic techniques.
Contact
Trudie Harris
E – kidgen@mcri.edu.au
W – https://www.kidgen.org/
MitoMDT: Mitochondrial Diagnostic Network for Genomics and Omics
Principal Investigator: Prof David Thorburn
MitoMDT (Mito Multi-Disciplinary Team) will be a national Mitochondrial Diagnostic Network for Genomics and Omics, comprising clinicians, researchers and diagnostic scientists. We seek to combine genomic testing with additional Omic technologies to improve diagnostic rates for Mitochondrial Disease (MD) to over 70%. This will identify novel genes, mechanisms and phenotypes, while enabling personalised treatments and achieving better health outcomes for patients with Mitochondrial Disease.
Amanda Samarasinghe
E – Amanda.samarasinghe@mcri.edu.au
IBMDx Study: Inherited Bone Marrow Failure and Related Disorders Study
Principal Investigator: Assoc Prof Piers Blombery
The primary objective of the IBMDx study is to improve the diagnostic process by leveraging whole genome and transcriptome sequencing (WGS/WTS). By analysing the genomic information of IBMFS-RD patients, this study aims to provide definitive diagnoses and enhance our understanding of these conditions. It also investigates the efficacy of WGS/WTS in the context of IBMFS-RD, evaluating its impact on health economics and assessing the challenges involved in implementing genomic testing in healthcare settings.
Kelsey Man
E – Kelsey.Man@petermac.org
AIGA: Australian ImmunoGenomics Alliance
Principal Investigator: Prof Stuart Tangye
The Australian ImmunoGenomics Alliance (AIGA) is a federated functional immunogenomics network that aims to close the widening gaps between genome sequencing, functional variant validation, genetic diagnosis and precision therapies to deliver a sustainable and equitable model of care for patients with Inborn Errors of Immunity (IEI). This patient-centred program will leverage multi-omic technologies and screening platforms to identify and validate pathogenic variants for rapid diagnosis and targeted treatment of IEIs.
Recruitment period: 2024-2028
More info: Study website
Karen Enthoven
E – k.enthoven@garvan.org.au
UDN-Aus: The Australian Undiagnosed Disease Network
Principal Investigator: Prof John Christodoulou
The UDN-Aus project involves individuals living with undiagnosed rare diseases who have had all available genetic/genomic testing through their local Genetics Service and remain undiagnosed. The genetic information from their previous testing will be reanalysed by their clinicians and further testing will be arranged as needed, with consent of the participant and/or their family.
Clinicians at participating sites in this project will be upskilled to provide research reanalysis of this data via the Centre for Population Genomics’ seqr analysis platform.
Madeliene Harris
E – udn.aus@mcri.edu.au
RNA-4RD: Disease-agnostic, nationally-accessible pipelines of clinical RNA Diagnostics
PI: Prof Sandra Cooper
Program summary: RNA4RD will conduct RNA testing for 100 families with rare disorders. Our vision is to pave the way for comprehensive integration of RNA diagnostics into mainstream clinical practise. Vastly improving diagnoses of families living with rare genetic diseases or inherited cancer predisposition and revolutionising their personalised health care options.
Chi Lynch-Sutherland
E – clynch-sutherland@cmri.org.au
W – https://www.kidsneuroscience.org.au/splice_site_submission
PERSYST: Pathogenic Evaluation of Recalcitrant Variants by Systematic Transactivation
Principal Investigator: Prof Josef Gecz
PERSYST aims to provide RNA-based functional evidence for Variants of Uncertain Significance (VUS) predicted to alter splicing in genes not expressed in clinically accessible tissues. The study will provide functional evidence of the pathogenicity of up to 500 such variants and involves using CRISPR-based transactivation on patient skin cell lines.
All clinical, diagnostic and research teams are welcome to enquire a VUS to Dr Lachlan Jolly at persyst@adelaide.edu.au. All enquiries will undergo in silico analysis pending approval by study investigators. Once approved, you will be invited to recruit and consent the patient to participate in the study.
Tarin Ritchie
E – persyst@adelaide.edu.au
RDMassSpec: Functional Genomics Platform for Solving Rare Genetic Disorders
Principal Investigator: Assoc Prof David Stroud
Program summary: RDMassSpec will conduct proteomic testing on approximately 300 cell or tissue based samples from undiagnosed participants recruited from three cohorts listed below, as well as from a cohort of nationally referred cases that remain undiagnosed following standard of care clinical genomic testing at the VCGS.
Advanced metabolomic testing will be conducted on approximately 100 cell or tissue based samples from undiagnosed participants recruited from the same three cohorts.
Rosie Brown
E– rosie.brown@mcri.edu.au
High Throughput Functional Genomics Assays for Ion Channelopathies
Principal Investigator: Prof Jamie Vandenberg
Program summary: Genetic variants in ion channel genes cause a wide range of devastating clinical diseases. Some of the more common channelopathies include polycystic kidney disease, cystic fibrosis, Inherited arrhythmia syndromes (Long QT syndrome, Brugada syndrome) and genetic epilepsies. These conditions as a whole cause significant morbidity with reduced quality of life as well as shortened life expectancy. The assays we develop will help resolve more cases and facilitate development of new therapeutics.
Patch-clamp assays planned (2022-2026): Missense or inframe indel ion channels variants in KCNH2, KCNQ1, KCNQ2, KCNQ3, SCN1A, SCN2A, SCN5A, CACNA1A, CACNA1G, CACNA1H, CACNA1I, CFTR
Chai-Ann Ng
E – c.ng@victorchang.edu.au
MaveDB: leveraging high-throughput functional assay data into existing disease-agnostic variant platforms
PI: Dr Alan Rubin
Remit: Database for multiplexed assays of variant effect (MAVE) functional data. Workforce education opportunities around functional evidence application in variant curation.
Rehan Villani
E – rehan.villani@qimrberghofer.edu.au