A5007057287- Retinal Diseases and Treatments
- Genomics and Phylogenetic Studies
- Retinal Imaging and Analysis
- Genetic diversity and population structure
- Glaucoma and retinal disorders
- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- Connexins and lens biology
- Corneal Surgery and Treatments
- Corneal surgery and disorders
- Retinal Development and Disorders
- Multiple Sclerosis Research Studies
- Molecular Biology Techniques and Applications
- RNA regulation and disease
- Zebrafish Biomedical Research Applications
- Retinal and Optic Conditions
- Intraocular Surgery and Lenses
- Systemic Lupus Erythematosus Research
- Chromosomal and Genetic Variations
- Forensic and Genetic Research
- Gene expression and cancer classification
- Genetics, Bioinformatics, and Biomedical Research
- Genetics, Aging, and Longevity in Model Organisms
- Plant and Fungal Species Descriptions
- Extracellular vesicles in disease
University of Tasmania
2014-2025
Massey University
2001-2015
Allan Wilson Centre
2010
Intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections are the standard of care for diabetic macular edema (DME), a common complication diabetes. This study aimed to identify factors influencing DME intravitreal anti-VEGF treatment outcomes in real-world practice.This was multi-center retrospective observational using medical chart review participants receiving (N = 248). Demographic and clinical variables were assessed association with best corrected visual acuity...
Complete chloroplast genome sequences provide a valuable source of molecular markers for studies in ecology and evolution plants. To obtain complete sequences, recent have made use the polymerase chain reaction to amplify overlapping fragments from conserved gene loci. However, this approach is time consuming can be more difficult implement where organisation differs among An alternative first isolate chloroplasts then capacity high-throughput sequencing sequences. We report our findings...
Passerines are the largest avian order, and 6,000 species comprise more than half of all extant bird species. This successful radiation probably had its origin in Australasian region, but dating this has been difficult due to a scarce fossil record poor biogeographic assumptions. Many New Zealand's endemic passerines fall within deeper branches passerine radiation, well resolved phylogeny for modern Zealand element oscine lineage will help us understand both biogeography. To end we present...
<h3>Importance</h3> Keratoconus is a condition in which the cornea progressively thins and protrudes conical shape, severely affecting refraction vision. It major indication for corneal transplant. To discover new genetic loci associated with keratoconus better understand causative mechanism of this disease, we performed genome-wide association study on patients keratoconus. <h3>Objective</h3> identify susceptibility regions human genome. <h3>Design, Setting, Participants</h3> This was...
The genus Rattus is highly speciose and has a complex taxonomy that not fully resolved. As shown previously there are two major groups within the genus, an Asian Australo-Papuan group. This study focuses on group particularly Australian rats. There uncertainties regarding number of species relationships among them. We analysed 16 mitochondrial genomes, including seven novel genomes from six species, to help elucidate evolutionary history also demonstrate, larger dataset, usefulness short...
Microsatellites are widely used in population genetics, but their evolutionary dynamics remain poorly understood. It is unclear whether microsatellite loci drift length over time. This important because the mutation processes that underlie these genetic markers central to models employ microsatellites. We identify more than 27 million microsatellites using a novel and unique dataset of modern ancient Adélie penguin genomes along with data from 63 published chordate genomes. investigate 2...
A super-enhancer (SE) is a cluster of enhancers with relatively high density particular chromatin features. SEs typically regulate key genes that can determine cell identity and differentiation. Therefore, identifying their effects may be critical in predicting regulatory genes, such as master transcription factor or oncogenes. The concept signal inducible SE has been developed to describe dense stretches terminal (TF) binding region, which provide an entry explore the interaction between...
Second-generation sequencing technology has allowed a very large increase in throughput. In order to make use of this high throughput, we have developed pipeline for and de novo assembly multiple mitochondrial genomes without the costs indexing. Simulation studies on mixture diverse animal showed that could be reassembled from coverage short (35 nt) reads, such as those generated by second-generation Illumina Genome Analyzer. We then assessed experimentally with long-range polymerase chain...
Zebrafish are an outstanding model for assessing the involvement of genes in paediatric cataracts. Gene discovery cataracts is enhanced by manipulation genome zebrafish embryos and comparing phenotypes mutant progeny with wildtype embryos. However, laboratory fish can also develop cataracts, potentially confounding results. In this study, we compared baseline cataract rate between two commonly used strains, AB TL, outbred transgenic line mCherry reporter. We assessed a total 805 lens images...
Objective Paediatric (childhood or congenital) cataract is an opacification of the normally clear lens eye and has a genetic basis in at least 18% cases Australia. This study aimed to replicate clinical gene screening identify variants likely be causative disease Australian patient cohort. Methods analysis Sixty-three reported isolated genes were screened for rare coding 37 families using genome sequencing. Results Disease-causing confirmed eight with variant classification as ‘likely...
Intraocular anti-vascular endothelial growth factor (VEGF) therapies are the front-line treatment for diabetic macular edema (DME); however, response varies widely. This study aimed to identify genetic determinants associated with anti-VEGF in DME. We performed a genome-wide association on 220 Australian patients DME treated therapy, genotyped Illumina Global Screening Array, and imputed Haplotype Reference Consortium panel. The primary outcome measures were changes central thickness (CMT...
Few studies have explored the association of genetic variants in microRNA genes and binding sites with diabetic retinopathy (DR) type 1 diabetes. We conducted a genome-wide scan for single nucleotide polymorphisms (SNPs) these by using data from study (GWAS).All known SNPs were imputed our GWAS (n = 325) DR cases controls (no DR). Relevant SNPS extracted miRNASNP PolymiRTS (version 2) databases. χ2 tests logistic regression (adjusting age, sex, duration diabetes, HbA1c, hypertension) used to...
Abstract Objectives To assess whether insulin therapy impacts the effectiveness of anti-vascular endothelial growth factor (anti-VEGF) injection for treatment diabetic macular edema (DME) in type 2 diabetes mellitus. Methods This was a retrospective multi-center analysis. The best-corrected visual acuity (BCVA) at 12 months, BCVA change, central thickness (CMT), CMT and cumulative number were compared between oral hypoglycemic agent (OHA) groups. Results mean final improved both ( N = 137; p...
We present the complete mitochondrial genome (accession number: LK995454) of an iconic Australian species, eastern grey kangaroo (Macropus giganteus). The mitogenomic organization is consistent with other marsupials, encoding 13 protein-coding genes, 22 tRNA 2 ribosomal RNA origin light strand replication and a control region or D-loop. No repetitive sequences were detected in region. M. giganteus mitogenome exemplifies combination gene order structural peculiarities that appear to be unique...
There are many advantages to understanding the genetics of human disease. Genetic markers can be used calculate risk developing a disease, and elucidation genetic factors pinpoint molecular aetiology which facilitate development targeted therapies. Diabetic retinopathy (DR) is common complication diabetes that has significant impact on quality life. It clear component, but determination proven difficult. To date, genome-wide studies for DR have been conducted relatively small patient cohorts...
Multiple sclerosis (MS) is a complex neurological and autoimmune disease with an established genetic component. Families multiple cases of MS are rare but do occur. We hypothesised that multicase families may have heightened polygenic risk for MS. In this work, we determined whether enriched in comparison to case-control cohort. Using the findings from largest genome-wide association study, calculated weighted score (wPRS) applied wPRS study population-based cohort (3,252 people 5,725...
To compare the visual outcomes of intravitreal antivascular endothelial growth factor (anti-VEGF) injections in neovascular age-related macular degeneration (nAMD), diabetic oedema (DMO) and retinal vein occlusion (RVO) a real-world setting.Retrospective analysis data from Tasmanian Ophthalmic Biobank database. The median change best-corrected acuity (BCVA) between baseline 12 months post initiating anti-VEGF treatment were compared three diseases. Final BCVA, central thickness (CMT),...
Abstract Microsatellites are widely used in population genetics, but their evolutionary dynamics remain poorly understood. It is unclear whether microsatellite loci drift length over time. We identify more than 27 million microsatellites using a novel and unique dataset of modern ancient Adélie penguin genomes along with data from 63 published chordate genomes. investigate two time scales: one based on the samples dating to approximately 46.5 kya, other diversification chordates 500 Mya....