A5068963297- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- Pregnancy and preeclampsia studies
- Family and Disability Support Research
- Birth, Development, and Health
- Muscle Physiology and Disorders
- Preterm Birth and Chorioamnionitis
- Gestational Diabetes Research and Management
- Amyotrophic Lateral Sclerosis Research
- Parvovirus B19 Infection Studies
- Child Nutrition and Feeding Issues
- Diet and metabolism studies
- Metabolism and Genetic Disorders
- Nutrition, Genetics, and Disease
- Reproductive System and Pregnancy
- Cardiac Structural Anomalies and Repair
- Virus-based gene therapy research
- Alcoholism and Thiamine Deficiency
- RNA Research and Splicing
- Prenatal Screening and Diagnostics
- Viral Infections and Immunology Research
- Adolescent and Pediatric Healthcare
- Ethics and Legal Issues in Pediatric Healthcare
- Genetics and Neurodevelopmental Disorders
Sydney Children’s Hospitals Network
2021-2025
UNSW Sydney
2019-2025
Sydney Children's Hospital
2021
Camden and Campbelltown Hospitals
2017-2020
Western Sydney University
2017-2020
Abstract Objective To provide a greater understanding of the tolerability, safety and clinical outcomes onasemnogene abeparvovec in real‐world practice, broad population infants with spinal muscular atrophy (SMA). Methods A prospective cohort study children SMA treated at Sydney Children's Hospital Network, Australia was conducted from August 2019 to November 2021. Safety included laboratory evaluations. Efficacy assessments World Health Organisation (WHO) motor milestones, oral swallowing...
This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA).We used implementation-effectiveness design continuous interdisciplinary review to measure SMA NBS test protocol performance, identify overcome laboratory clinical barriers implementation, describe progress during 2-year study.The screened 252 081 infants from 1st August 2018 31st January 2021. Using protocol, 21 were...
Abstract Background Spinal muscular atrophy (SMA) is a neurodegenerative disease that has substantial and multifaceted burden on affected adults. While advances in supportive care therapies are rapidly reshaping the therapeutic environment, these efforts have largely centered pediatric populations. Understanding natural history, pathways, patient-reported outcomes associated with SMA adulthood critical to advancing health policy, practice research across spectrum. The aim of this study was...
Objectives To elucidate the motor unit response to intrathecal nusinersen in children with symptomatic spinal muscular atrophy (SMA) using a novel number estimation technique. Methods MScanFit MUNE studies were sequentially undertaken from abductor pollicis brevis muscle after stimulation of median nerve prospective cohort SMA, undergoing treatment at single neuromuscular centre June 2017 August 2019. Electrophysiological measures included compound action potential (CMAP), (MUNE),...
Success in the treatment of infants with spinal muscular atrophy (SMA) underscores potential vectors based on adeno-associated virus (AAV). However, a major obstacle to full realization this is pre-existing natural and therapy-induced anti-capsid humoral immunity. Structure-guided capsid engineering one possible approach surmounting challenge but necessitates an understanding capsid-antibody interactions at high molecular resolution. Currently, only mouse-derived monoclonal antibodies (mAbs)...
Spinal muscular atrophy (SMA) has profound implications across a lifetime for people with the condition and their families. Those affected need long-term multidisciplinary medical supportive care to maintain functional mobility, independence quality of life. Little is known about how adults SMA experience healthcare, or components perceived as important in promoting well-being. The purpose this study was use qualitative research methodology explore lived experiences healthcare wellbeing SMA....
Newborn screening (NBS) for spinal muscular atrophy (SMA) is a recognised model through which health outcomes can be improved. However, perspectives of parents and healthcare professionals (HCPs) involved in such programs are largely unknown.A pilot program SMA ran from August 2018-July 2020. Using mixed-methods convergent methodology, we used self-administered questionnaire to understand parents' perceptions psychological impact the diagnosis treatment. We thematically analysed...
Abstract Duchenne muscular dystrophy (DMD), an X-linked recessive condition is maternally inherited in two-thirds of affected boys. It important to establish carrier status female relatives restore reproductive confidence for non-carriers and facilitate options cardiac surveillance carriers. This study investigates disease incidence within Australian model cascade screening evolving genetic diagnostic technologies. A retrospective population-based cohort all genetically and/or...
The availability of disease modifying therapies for spinal muscular atrophy (SMA) have created an urgent need to identify clinically meaningful biomarkers that provide insight into progression and therapeutic response. microRNAs (miRNA) been shown be involved in the pathogenesis SMA potential within field SMA. miRNA-sequencing was utilized differential miRNA expression cerebrospinal fluid (CSF) six children with treated nusinersen this exploratory study. Fourteen differentially expressed...
Extremes of fetal growth are associated with increased perinatal mortality and morbidity a higher prevalence cardiovascular disease, obesity diabetes in later life. We aimed to identify changes placental gene expression pregnancies evidence dysfunction candidate genes that may be used abnormal patterns prior delivery.Growth-restricted (n = 4), macrosomic 6) normal term 5) placentas were selected from banked series 200) collected immediately after caesarean section. RNA was extracted...
Introduction The clinical application of disease modifying therapies has dramatically changed the paradigm management people with spinal muscular atrophy (SMA), from sole reliance on symptomatic care directed toward downstream consequences muscle weakness, to proactive intervention and even preventative care.Areas covered In this perspective, authors evaluate contemporary therapeutic landscape SMA discuss evolution novel phenotypes treatment algorithm, including key factors that define...
Spontaneous preterm birth is the leading cause of perinatal morbidity and mortality worldwide continues to present a major clinical dilemma. We previously reported that number protein species were dysregulated in maternal serum collected at 11-13+6 weeks' gestation from pregnancies continued labour spontaneously deliver preterm.In this study, we aimed validate changes seen 4 candidate species: alpha-1-antitrypsin, vitamin D-binding (VDBP), alpha-1beta-glycoprotein apolipoprotein A-1 larger...
Serum provides a rich source of potential biomarker proteoforms. One the major obstacles in analysing serum proteomes is detecting lower abundance proteins owing to presence hyper-abundant species (e.g., albumin and immunoglobulins). Although depletion methods have been used address this, these can lead concomitant removal non-targeted protein species, thus raise issues specificity, reproducibility, capacity for meaningful quantitative analyses. Altering native stoichiometry proteome...
Abstract Spinal muscular atrophy (SMA) is associated with developmental disruption of motor axons in ventral roots the spinal cord alongside axon degeneration. The pathogenesis peripheral axonal change during development pertinent to understand treatment response. Nerve excitability techniques, stimulating median nerve at wrist, were utilised investigate neurodevelopment 24 children SMA, compared 71 age‐matched controls. Longitudinal response nusinersen 18 was also investigated. Significant...
Background: Current carrier screening methods do not identify a proportion of carriers that may have children affected by spinal muscular atrophy (SMA). Additional genetic data is essential to inform accurate risk assessment and counselling SMA carriers. This study aims quantify the various genotypes among parents with SMA. Method: A retrospective cohort was undertaken at Sydney Children’s Hospital Network, major referral centre for New South Wales, Australia. Participants included...