A5058487948- Renal Diseases and Glomerulopathies
- Renal and related cancers
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Adolescent and Pediatric Healthcare
- Genomics and Rare Diseases
- Childhood Cancer Survivors' Quality of Life
- Renal Transplantation Outcomes and Treatments
- Autoimmune Bullous Skin Diseases
- Chronic Kidney Disease and Diabetes
- Dialysis and Renal Disease Management
- Genetic and Kidney Cyst Diseases
- Amyloidosis: Diagnosis, Treatment, Outcomes
- BRCA gene mutations in cancer
- Organ Donation and Transplantation
- Pregnancy and Medication Impact
- Vasculitis and related conditions
- Cardiovascular Effects of Exercise
- Prenatal Screening and Diagnostics
- Palliative Care and End-of-Life Issues
- Immunodeficiency and Autoimmune Disorders
- Health Systems, Economic Evaluations, Quality of Life
- Celiac Disease Research and Management
- Cardiomyopathy and Myosin Studies
- E-Learning and Knowledge Management
- COVID-19 Impact on Reproduction
Children's Hospital at Westmead
2015-2025
The University of Sydney
2015-2025
Sydney Children's Hospital
2019-2024
Sydney Children’s Hospitals Network
2018-2024
Melbourne Genomics Health Alliance
2017-2024
Munster Technological University
2017-2023
Kidney Health Australia
2023
University of Bristol
2011-2022
UNSW Sydney
2018-2022
Murdoch Children's Research Institute
2022
Up to 95% of children presenting with steroid-resistant nephrotic syndrome in early life will have a pathogenic single-gene mutation 1 24 genes currently associated this disease. Others may be affected by polymorphic variants. There is no accepted diagnostic algorithm for clinical genetic testing. The hypothesis was that the increasing reliability next generation sequencing allows comprehensive one-step investigation group and similar patient groups.This study used screen 446 genes,...
Of children with idiopathic nephrotic syndrome, 10%-20% fail to respond steroids or develop secondary steroid resistance (termed initial sensitivity) and the majority progress transplantation. Although 30%-50% of these patients suffer disease recurrence after transplantation, poor long-term outcome, no reliable indicator has yet been identified. Notably, incidence transplantation appears reduced in steroid-resistant syndrome (SRNS) due monogenic disorders. We reviewed 150 transplanted SRNS...
Steroid–resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment permselectivity. Inheritance genetic SRNS may be autosomal dominant or recessive, with subset recessive presenting as congenital (CNS). Mutations 53 genes are associated human SRNS, but these mutations explain ≤30% patients hereditary cases and only 20% sporadic cases. The proteins encoded by expressed podocytes, malfunction leads to universal end point...
PurposeTo assess the relative cost-effectiveness of genomic testing compared with standard non-genomic diagnostic investigations in patients suspected monogenic kidney disease from an Australian health care system perspective.MethodsDiagnostic and clinical information was used a national cohort 349 participants. Simulation modelling captured diagnostic, health, economic outcomes during time horizon presentation until 3 months post-test results based on outcome cost per additional diagnosis...
Diagnostic genomic sequencing is the emerging standard of care in nephrology. There a growing need to scale up implementation diagnostics nationally improve patient outcomes.
Abstract Focal segmental glomerulosclerosis ( FSGS ) is associated with glomerular podocyte injury. Podocytes undergo dramatic changes in their actin structure, little mechanistic insight to date into the human disease. Post‐transplantation recurrence of archetypal form disease caused by unknown circulating plasma ‘factors’. There increasing indication that protease activity could be central this Using clinical exchange material, collected from patients relapse and remission stages disease,...
Laminin alpha 5 (LAMA5) is a member of large family proteins that trimerise and then polymerise to form central component all basement membranes. Consequently, the protein plays an instrumental role in shaping normal development kidney, skin, neural tube, lung limb, many other organs tissues. Pathogenic mutations some laminins have been shown cause range largely syndromic conditions affecting competency membranes which they contribute. We report identification mutation polymerisation domain...
Genetic kidney disease (GKD) significantly affects the community and is responsible for a notable portion of adult cases about half in paediatric patients. It substantially impacts quality life expectancy affected children adults across all stages disease. Precise genetic diagnosis GKD promises to improve patient outcomes, provide access targeted treatments, reduce burden individuals, families, healthcare systems. investigations are increasingly used nephrology practice; however, many...
Abstract Background and hypothesis Recent advances in membranous nephropathy treatment have focused on B cell depletion, which is incompletely effective, potentially due to persistent autoantibody-producing plasma cells or alternative pathways of injury. T costimulatory blockade (cytotoxic-T-lymphocyte-associated antigen 4 (CTLA4)-Ig) prevent cell-dependent activation short-course proteasome inhibition (bortezomib) deplete may represent a complementary form treatment. Methods Lewis rats were...
ABSTRACT Aim CD8 + regulatory T cells (Tregs) are cross‐protective across multiple animal models of autoimmunity. Recently, specific peptides from a yeast‐peptide‐major histocompatibility complex library that expanded Tregs in murine experimental sclerosis were reported. Whether these also expand and protect against Heymann nephritis (HN), an model membranous nephropathy is unknown. We aimed to assess the efficacy peptide vaccination induce HN. Methods Lewis rats immunised with Fx1A/complete...
To assess the outcome of children referred to hospital eye service (HES) from an orthoptist based preschool vision screening programme.A retrospective study was conducted during a 2 year period. Children were screened by community orthoptists at 3 1/2 years age. The main measures (1) HES findings for screening, and (2) visual amblyopic after completion treatment.The attendance rate 79.3% (6794 children): 348 (5.1% those screened) HES. refractive error (32.9%), amblyopia (29.9%), false...
Abstract Genetic testing in nephrology clinical practice has moved rapidly from a rare specialized test to routine both pediatric and adult nephrology. However, clear information pertaining the likely outcome of is still missing. Here we describe experience accredited Australia New Zealand Renal Gene Panels service, reporting on sequencing for 552 individuals 542 families with suspected kidney disease Zealand. An increasing number referrals have been processed since service inception an...
Abstract Background Variants in genes encoding nuclear pore complex (NPC) proteins are a newly identified cause of paediatric steroid-resistant nephrotic syndrome (SRNS). Recent reports describing NUP93 variants suggest these could be significant onset SRNS. We report cases the UK and demonstrate vivo functional effects Nup93 depletion fly ( Drosophila melanogaster) nephrocyte model. Methods Three hundred thirty-seven SRNS patients from National cohort with Nephrotic Syndrome (NephroS) were...