A5037831494- Cardiomyopathy and Myosin Studies
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Cardiovascular Effects of Exercise
- Cardiac electrophysiology and arrhythmias
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Congenital Heart Disease Studies
- Cardiac pacing and defibrillation studies
- Cancer Genomics and Diagnostics
- Cardiovascular Function and Risk Factors
- Ethics and Legal Issues in Pediatric Healthcare
- Iron Metabolism and Disorders
- Prenatal Screening and Diagnostics
- Hemoglobinopathies and Related Disorders
- Genomics and Phylogenetic Studies
- Neurogenetic and Muscular Disorders Research
- Ethics in Clinical Research
- RNA Research and Splicing
- Cardiac Arrhythmias and Treatments
- RNA modifications and cancer
- Trypanosoma species research and implications
- Nutrition, Genetics, and Disease
- Autism Spectrum Disorder Research
- Biotechnology and Related Fields
The University of Melbourne
2014-2024
Murdoch Children's Research Institute
2015-2024
Royal Children's Hospital
2011-2024
Victorian Clinical Genetics Services
2015-2024
Melbourne Genomics Health Alliance
2015-2021
Australasian Society for Infectious Diseases
2019
The Royal Melbourne Hospital
2013-2016
Walter and Eliza Hall Institute of Medical Research
2015
The Alfred Hospital
2013-2014
Optimal use of whole-exome sequencing (WES) in the pediatric setting requires an understanding who should be considered for testing and when it performed to maximize clinical utility cost-effectiveness.
In hypertrophic cardiomyopathy (HCM), attempts to associate genotype with phenotype have largely been unsuccessful. More recently, cardiac magnetic resonance (CMR) imaging has enhanced myocardial fibrosis characterization, while next-generation sequencing (NGS) can identify pathogenic HCM mutations. We used CMR and NGS explore the link between fibrotic in HCM. One hundred thirty-nine patients 25 healthy controls underwent quantify regional late gadolinium enhancement (LGE) diffuse...
Non-sustained ventricular tachycardia (NSVT) is a risk factor for sudden cardiac death (SCD) in patients with hypertrophic cardiomyopathy (HCM). We aimed to assess whether diffuse fibrosis on magnetic resonance (CMR) imaging could be surrogate marker arrhythmias HCM.A total of 100 HCM (mean age 51 ± 13 years, septal wall thickness 20 5 mm) underwent CMR 1.5 T scanner determine the presence late gadolinium enhancement (LGE) focal fibrosis, and post-contrast T1 mapping fibrosis. The NSVT was...
We identified a novel homozygous truncating mutation in the gene encoding alpha kinase 3 (ALPK3) family presenting with paediatric cardiomyopathy. A recent study biallelic mutations of ALPK3 three unrelated families; therefore, there is strong genetic evidence that causes This aimed to clarify mechanism and investigate molecular cellular pathogenesis underlying ALPK3-mediated performed detailed clinical analyses consanguineous family, identifying new (c.3792G>A, p.W1264X) which undergoes...
The causes of cardiomyopathy in children are less well described than adults. We evaluated the clinical diagnoses and genetic childhood outcomes cascade testing family members.We recruited from a pediatric cardiology service or heart diseases clinic. performed Sanger, gene panel, exome genome sequencing classified variants for pathogenicity using American College Molecular Genetics Genomics guidelines.Cardiomyopathy was diagnosed 221 unrelated aged ≤18 years. Children mostly had hypertrophic...
Background: An implantable cardioverter defibrillator (ICD) is a device used in the treatment of individuals with life‐threatening cardiac conditions. These include genetic disorders such as long QT syndrome, hypertrophic cardiomyopathy, and Brugada all which have propensity to cause sudden death. Adults ICDs consistently report elevated levels anxiety depression, well negative lifestyle changes associated device. Compared older ICD recipients, young patients face decades life long‐term...
Abstract Objective To explore the diagnostic utility and cost effectiveness of whole exome sequencing ( WES ) in a cohort individuals with peripheral neuropathy. Methods Singleton was performed recruited though one pediatric adult tertiary center between February 2014 December 2015. Initial analysis restricted to virtual panel 55 genes associated neuropathies. Patients uninformative results underwent expanded data. Data on prior investigations assessments for purposes each patient collected....
Abstract We aimed to determine capacity and readiness of Australian clinical genetic healthcare professionals provide genomic medicine. An online survey was administered individuals with counseling or genetics qualifications in Australia. Data collected included: education, certification, continuing professional development (CPD), employment, versus practice. Of the estimated 630 Australia, 354 completed (56.2% response rate). Explanatory interviews were conducted 5.5% counselor respondents....
Background Dilated cardiomyopathy may be heritable but shows extensive genetic heterogeneity. The utility of whole exome sequencing as a first‐line test for patients with dilated in contemporary “real‐world” setting has not been specifically established. Using rigorous, evidence‐based variant interpretation, we aimed to identify the prevalence molecular diagnosis clinical setting. Methods and Results Whole was performed eligible (n=83) idiopathic or familial cardiomyopathy. Variants were...
Biallelic damaging variants in ALPK3, encoding alpha-protein kinase 3, cause pediatric-onset cardiomyopathy with manifestations that are incompletely defined.We analyzed clinical of biallelic ALPK3 19 pediatric patients, including nine previously published cases. Among these, 11 loss-of-function (LoF) variants, seven compound LoF and deleterious missense one homozygous variant were identified. 18 live-born 8 exhibited neonatal dilated (44.4%; 95% CI: 21.5%-69.2%) subsequently transitioned...
Purpose: To explore the impact of cardiovascular genetic counseling practice on counselor well– being and describe self–care practices. Methods: Participants were recruited through Australasian Society Genetic Counselors. Semi–structured interviews explored challenges in practice, supervision self–care. Interview transcripts analysed using reflexive thematic analysis. Self–reported demographics, psychological well–being burnout measures used. Results: Eighteen counselors participated. Median...
Introduction As routine genomic testing expands, so too does the opportunity to look for additional health information unrelated original reason testing, termed findings (AF). Analysis many different types of AF may be available, particularly families undergoing trio testing. The optimal model service delivery remains determined, especially when test occurs in acute care setting. Methods and analysis Families enrolled a national study providing ultrarapid critically ill children will offered...
The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics resolve variants uncertain significance (VUS) in clinical management patients families with cardiomyopathies, primary arrhythmias, congenital heart disease (CHD).