A5017364760- Fetal and Pediatric Neurological Disorders
- Advanced Neuroimaging Techniques and Applications
- Neonatal and fetal brain pathology
- Neurogenesis and neuroplasticity mechanisms
- Craniofacial Disorders and Treatments
- Axon Guidance and Neuronal Signaling
- Dental Radiography and Imaging
- Cleft Lip and Palate Research
- Facial Trauma and Fracture Management
- Orthodontics and Dentofacial Orthopedics
- Barrier Structure and Function Studies
- Hedgehog Signaling Pathway Studies
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Traumatic Ocular and Foreign Body Injuries
- Cancer-related gene regulation
- Congenital limb and hand anomalies
- Developmental Biology and Gene Regulation
- Urological Disorders and Treatments
- Congenital heart defects research
- Elbow and Forearm Trauma Treatment
- Biochemical effects in animals
- Cancer, Hypoxia, and Metabolism
- Neuroscience and Neuropharmacology Research
- Spinal Dysraphism and Malformations
Metro South Health
2023-2025
The University of Queensland
2014-2024
Allen Institute for Brain Science
2018-2021
Brisbane School of Theology
2021
University College London
2021
Faculty (United Kingdom)
2021
Royal Children's Hospital
2018
The University of Melbourne
2018
Murdoch Children's Research Institute
2018
Central Queensland University
2017
Post-zygotic mutations that generate tissue mosaicism are increasingly associated with severe congenital defects, including those arising from failed neural tube closure. Here we report fold elevation during mouse spinal neurulation is vulnerable to deletion of the VANGL planar cell polarity protein 2 (Vangl2) gene in as few 16% neuroepithelial cells. Vangl2-deleted cells typically dispersed throughout neuroepithelium, and each non-autonomously prevents apical constriction by an average five...
The Chiari II brain malformation affects 90% of children with open spina bifida. hindbrain herniates through the foramen magnum into vertebral canal leading to frequent hydrocephalus and occasional respiratory emergency. is not confined back brain, but a global syndrome, supratentorial defects that are associated learning disability, affecting 20-25% reason for association between bifida has long been debated. Separate effects on spinal cord causative genetic or non-genetic factor(s)...
Corpus callosum dysgenesis (CCD) describes a collection of brain malformations in which the main fiber tract connecting two hemispheres is either absent (complete CCD, or 'agenesis corpus callosum') reduced size (partial CCD). Humans with these neurodevelopmental disorders have wide range cognitive outcomes, including seemingly preserved features interhemispheric communication some cases. However, structural substrates that could underlie this variability outcome remain to be fully...
Facial fractures are exceedingly common, and of the mandible most common facial fracture. Over past two decades a changing trend in aetiology these has been apparent, with decline percentage resulting from motor vehicle trauma, an increase assaults. A 3 year prospective study 324 patients presenting to Royal Adelaide Hospital mandibular was conducted patient groups, influence alcohol, type fracture were examined compared other large series around world.
Transcription factors act during cortical development as master regulatory genes that specify arealization and cellular identities. Although numerous transcription have been identified being crucial for development, little is known about their downstream targets how they mediate the emergence of specific neuronal connections via selective axon guidance. The EMX are essential early patterning cerebral cortex, but whether EMX1 mediates interhemispheric connectivity by controlling corpus...
Corpus callosum dysgenesis (CCD) is a congenital disorder that incorporates either partial or complete absence of the largest cerebral commissure. Remodelling interhemispheric fissure (IHF) provides substrate for callosal axons to cross between hemispheres, and its failure main cause CCD. However, it unclear whether defects in this process could give rise heterogeneity expressivity phenotypes seen human cases We identify incomplete IHF remodelling as key structural correlate range...
The purposes of this study were to investigate the differences in mechanical properties major miniplating systems used for noncompression miniplate osteosynthesis mandibular fractures and determine whether these influence treatment outcome. was conducted two parts. First, six currently at Royal Adelaide Hospital subjected bending tests University Engineering Department quantify relative stiffness each plate. Second, a prospective sample patients presenting with analyzed. These treated...
The corpus callosum forms the major interhemispheric connection in human brain and is unique to eutherian (or placental) mammals. developmental events associated with evolutionary emergence of this structure, however, remain poorly understood. A key step callosal formation prior remodeling fissure by embryonic astroglial cells, which then subsequently act as a permissive substrate for axons, enabling them cross midline. However, whether astroglial-mediated mammals, thus possibly phylogenetic...
Corpus callosum dysgenesis is a congenital abnormality whereby the corpus fails to develop normally, and has been associated with range of neuropsychological outcomes. One specific finding in some individuals "congenital mirror movement disorder", which presence involuntary movements on one side body that mimic voluntary other side. Mirror have also mutations deleted colorectal carcinoma (DCC) gene. The current study aims comprehensively document outcomes neuroanatomical mapping family (a...
The forebrain hemispheres are predominantly separated during embryogenesis by the interhemispheric fissure (IHF). Radial astroglia remodel IHF to form a continuous substrate between for midline crossing of corpus callosum (CC) and hippocampal commissure (HC). Deleted in colorectal carcinoma (DCC) netrin 1 (NTN1) molecules that have an evolutionarily conserved function commissural axon guidance. CC HC absent Dcc Ntn1 knockout mice, while other commissures only partially affected, suggesting...
Obstructive sleep apnea syndrome (OSAS) frequently develops in patients with craniosynostosis and associated midfacial stenosis. In the past, conservative measures or tracheostomy have been used to manage this condition. Although course of OSAS these is multifactorial, a major factor narrow nasopharyngeal space. Aggressive surgical intervention enlarge space can reduce severity therefore avoid need for tracheostomy. Surgical approaches include adenotonsillectomy, uvulopalatopharyngoplasty,...
Individuals with corpus callosum dysgenesis (CCD) lack the clear disconnection syndrome that is characteristic of individuals in whom has been surgically severed. One potential explanation for this paradox anterior commissure undergoes neuroplastic remodeling CCD to improve interhemispheric communication between brain hemispheres.
We describe unique monozygotic twins with Crouzon's disease and cloverleaf-shaped skull deformities who have been closely followed since birth. Their abnormal shapes were identified during antenatal ultrasound examination. The had gross exophthalmos hydrocephalus papilledema, so early calvarial decompression surgery was required. Although born to healthy parents of normal appearance, a third cousin the milder form disease, there family history high-arched palate on twins' paternal side....
Two unrelated children were prenatally diagnosed with isolated agenesis of the corpus callosum (iACC) in otherwise uneventful pregnancies. Postnatal clinical assessments identified mirror movements these offspring, their siblings, and respective mothers. MRI (figure) showed characteristic features complete (A, B) partial (C, D) iACC, abnormal crossing corticospinal tracts (E, F) on diffusion imaging. Sequencing revealed monoallelic missense mutations axon guidance receptor DCC .1 The...
Abstract Corpus callosum dysgenesis (CCD) is a congenital disorder that incorporates either partial or complete absence of the largest cerebral commissure. Remodelling interhemispheric fissure (IHF) provides substrate for callosal axons to cross between hemispheres, and its failure main cause CCD. However, it unclear whether defects in this process could give rise heterogeneity expressivity phenotypes seen human cases We identify incomplete IHF remodelling as key structural correlate range...