Publications by authors named "G Syn"
Chronic kidney disease is a significant cause of morbidity and mortality worldwide. In recent years, Galectin-3 has been put forward as a potential biomarker of chronic kidney disease progression. This review aims to assess the clinical utility of Galectin-3 in various pathological processes leading up to chronic kidney disease such as diabetes and lupus nephritis.
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- - The study focuses on using genomic sequencing to uncover novel genetic variants in congenital heart disease (CHD) patients, specifically a variant of uncertain significance (VUS) in the GATA4 gene, which requires functional analysis to determine its impact on disease.
- - Researchers used CRISPR gene editing on induced pluripotent stem cells (iPSCs) to create a model for studying the effects of the GATA4 VUS, comparing the genetic variant cells with healthy controls through cardiomyocyte differentiation experiments.
- - Results showed that the variant cardiomyocytes exhibited abnormal gene expression related to cardiac function and altered electrical activity, supporting the idea that the VUS could have damaging effects, while also demonstrating an effective method for assessing
There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance. Low throughput functional validation in specialist laboratories is the current ad hoc approach for functional validation of genetic variants, which creating major bottlenecks in patient diagnosis.
View Article and Find Full Text PDFBackground: Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing (NGS) identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance (VUS) and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.
View Article and Find Full Text PDFBackground: Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians.
Methods: Illumina® Omni2.5 BeadChip and imputed data were compared between 21 children with severe OM (multiple episodes chronic suppurative OM and/or perforations or tympanic sclerosis) and 370 individuals without this phenotype, followed by FUnctional Mapping and Annotation (FUMA).