A5003074211- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- RNA modifications and cancer
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- CRISPR and Genetic Engineering
- Epigenetics and DNA Methylation
- Alzheimer's disease research and treatments
- Histone Deacetylase Inhibitors Research
- Family and Disability Support Research
- Adolescent and Pediatric Healthcare
- Neurogenesis and neuroplasticity mechanisms
- Genomic variations and chromosomal abnormalities
- Peptidase Inhibition and Analysis
- Nerve Injury and Rehabilitation
- Studies on Chitinases and Chitosanases
- Blood disorders and treatments
- Congenital heart defects research
- RNA Research and Splicing
- Spinal Cord Injury Research
- Parkinson's Disease Mechanisms and Treatments
- Pregnancy-related medical research
- Amyotrophic Lateral Sclerosis Research
- Bioinformatics and Genomic Networks
- Chromatin Remodeling and Cancer
Children's Hospital at Westmead
2015-2025
The University of Sydney
2016-2025
Children's Medical Research Institute
2020-2024
Wojskowy Instytut Medycyny Lotniczej
2022
Sydney Children’s Hospitals Network
2018-2019
UNSW Sydney
2004
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive pontobulbar palsy, sensorineural hearing loss respiratory insufficiency. There has been no treatment for this neurodegenerative disorder, which leads to failure usually death during childhood. We recently reported the identification SLC52A2,...
Adeno-associated virus (AAV) vectors are quickly becoming the of choice for therapeutic gene delivery. To date, hundreds natural isolates and bioengineered variants have been reported. While factors such as high production titer low immunoreactivity important to consider, ability deliver genetic payload (physical transduction) drive transgene expression (functional remains most feature when selecting AAV clinical applications. Reporter assays commonly used methods determining vector fitness....
Although genetic variation is a major risk factor of neurodevelopmental disorders, environmental factors during pregnancy and early life are also important in disease expression. Animal models demonstrate that maternal inflammation causes fetal neuroinflammation deficits, brain transcriptomics disorders humans show upregulated differentially expressed genes enriched immune pathways. We prospectively recruited 200 sequentially referred children with tic disorders/obsessive-compulsive disorder...
Paediatric Acute-Onset Neuropsychiatric Syndrome (PANS) is characterised by abrupt onset obsessive compulsive disorder and regression in neurodevelopmental skills, triggered infection or stress. Whether PANS a distinct entity part of spectrum uncertain, its pathophysiology remains unclear. We show that children with (n=32) other non-PANS (n=68) disorders (total n=100) have higher reported early childhood infections loss previously acquired developmental skills compared to neurotypical...
Defects in the motor domain of kinesin family member 1A (KIF1A), a neuron-specific ATP-dependent anterograde axonal transporter synaptic cargo, are well-recognized to cause spectrum neurological conditions, commonly known as KIF1A-associated disorders (KAND). Here, we report one mutation-negative female with classic Rett syndrome (RTT) harboring de novo heterozygous novel variant [NP_001230937.1:p.(Asp248Glu)] highly conserved KIF1A. In addition, three individuals severe neurodevelopmental...
Alzheimer's disease (AD) is the most common form of dementia. There no treatment and AD models have focused on a small subset genes identified in familial AD. Microarray studies thousands dysregulated brains patients with yet identifying best gene candidates to both model treat remains challenge. We performed meta-analysis microarray data from frontal cortex (n = 697) cerebellum 230) healthy controls. A two-stage artificial intelligence approach, unsupervised supervised machine learning,...
Next-generation sequencing (NGS) has now evolved to be a relatively affordable and efficient means of detecting genetic mutations. Whole genome (WGS) or whole exome (WES) offers the opportunity for rapid diagnosis in many paediatric haematological conditions, where phenotypes are variable either large number genes involved, making sanger expensive labour-intensive. NGS potential gene discovery patients who do not have mutations currently known genes. This report shows how WES was used six...
Glycyl-tRNA synthetase (GARS; OMIM 600287) is one of thirty-seven tRNA-synthetase genes that catalyses the synthesis glycyl-tRNA, which required to insert glycine into proteins within cytosol and mitochondria. To date, eighteen mutations in GARS have been reported patients with autosomal-dominant Charcot-Marie-Tooth disease type 2D (CMT2D; 601472), and/or distal spinal muscular atrophy V (dSMA-V; 600794). In this study, we report a patient clinical biochemical features suggestive...