A5030855893- MicroRNA in disease regulation
- Osteoarthritis Treatment and Mechanisms
- Circular RNAs in diseases
- RNA Research and Splicing
- Genomics and Rare Diseases
- Cancer-related molecular mechanisms research
- Genetic Neurodegenerative Diseases
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- Biochemical and Molecular Research
- CRISPR and Genetic Engineering
- Molecular Biology Techniques and Applications
- Genetics, Bioinformatics, and Biomedical Research
- Mitochondrial Function and Pathology
- Knee injuries and reconstruction techniques
- Genomic variations and chromosomal abnormalities
- Total Knee Arthroplasty Outcomes
- Cardiomyopathy and Myosin Studies
- Bone fractures and treatments
- Gene expression and cancer classification
- Bone Metabolism and Diseases
- Muscle Physiology and Disorders
- RNA Interference and Gene Delivery
- Microtubule and mitosis dynamics
Newcastle University
2021-2025
Wellcome Centre for Mitochondrial Research
2023-2025
Newcastle Hospitals - Campus for Ageing and Vitality
2021-2024
University of East Anglia
2023-2024
Clinical Research Institute
2024
University of Newcastle Australia
2024
Centre for Life
2024
Abstract Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle countries (LMICs) with limited access diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked inequality hampers understanding of diversity hinders accurate all settings. We developed a cloud-based transcontinental...
Abstract King-Denborough Syndrome (KDS) is a congenital myopathy (CM) characterised by myopathy, dysmorphic features and susceptibility to malignant hyperthermia. The objective of this study was investigate the genotype-phenotype correlation in Black African patients presenting with CM, specifically those KDS-like phenotypes, who remained undiagnosed for over 25 years. A cohort 67 CM studied, whom 44 were clinically evaluated diagnosed KDS. Whole-exome sequencing (WES) performed as part an...
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the occurring electron transfer flavoprotein-ubiquinone oxidoreductase gene ( ETFDH) . Recent evidence potential founder for MADD South African (SA) population, initiated this extensive investigation. As part International Centre Genomic Medicine Neuromuscular Diseases study, we recruited a cohort patients diagnosed...
ABSTRACT Animal models of post-traumatic osteoarthritis (PTOA) recapitulate the pathological changes observed in human PTOA. Here, skeletally mature C57Bl6 mice were subjected to either rapid-onset non-surgical mechanical rupture anterior cruciate ligament (ACL) or surgical destabilisation medial meniscus (DMM). Transcriptome profiling micro-dissected cartilage at day 7 42 following ACL DMM procedure, respectively, showed that two comparable and highly correlative. Gene ontology (GO)...
The analysis of longitudinal datasets and construction gene regulatory networks (GRNs) provide a valuable means to disentangle the complexity microRNA (miRNA)-mRNA interactions. However, there are no computational tools that can integrate, conduct functional generate detailed from miRNA-mRNA datasets.We present TimiRGeN, an R package uses time point-based differential expression results identify interactions influencing signaling pathways interest. be visualized in or exported PathVisio...
Abstract Neuromuscular disorders affect almost 20 million people worldwide. Advances in molecular diagnosis have provided valuable insights into neuromuscular disorders, allowing for improved standards of care and targeted therapeutic approaches. Despite this progress, access to genomic remains scarce inconsistent middle-income countries such as Brazil. The lack public health policies enable feasible genetic the shortage specialists are main reasons process. We report our experience a...
Changes in chondrocyte gene expression can contribute to the development of osteoarthritis (OA), and so recognition regulative processes during chondrogenesis lead a better understanding OA. microRNAs (miRNAs) are key regulators chondrocytes/OA, we have used combined experimental, bioinformatic, systems biology approach explore multiple miRNA-mRNA interactions that regulate chondrogenesis. A longitudinal bioinformatic analysis identified paralogues miR-199a-5p miR-199b-5p as pro-chondrogenic...
Changes in chondrocyte gene expression can contribute to the development of osteoarthritis (OA), and so recognition regulative processes during chondrogenesis lead a better understanding OA. microRNAs (miRNAs) are key regulators chondrocytes/OA we have used combined experimental, bioinformatic, systems biology approach explore multiple miRNA-mRNA interactions that regulate chondrogenesis. A longitudinal bioinformatic analysis identified paralogues miR-199a-5p miR-199b-5p as pro-chondrogenic...
Changes in chondrocyte gene expression can contribute to the development of osteoarthritis (OA), and so recognition regulative processes during chondrogenesis lead a better understanding OA. microRNAs (miRNAs) are key regulators chondrocytes/OA we have used combined experimental, bioinformatic, systems biology approach explore multiple miRNA-mRNA interactions that regulate chondrogenesis. A longitudinal bioinformatic analysis identified paralogues miR-199a-5p miR-199b-5p as pro-chondrogenic...
Abstract Introduction Structural variants (SVs) of the nebulin gene ( NEB ), including intragenic duplications, deletions, and copy number variation triplicate region, are an established cause recessively inherited nemaline myopathies related neuromuscular disorders. Large deletions have been shown to dominantly distal myopathies. Here we provide overview 35 families with muscle disorders caused by such SVs in . Methods Using custom Comparative Genomic Hybridization arrays, exome sequencing,...
Changes in chondrocyte gene expression can contribute to the development of osteoarthritis (OA), and so recognition regulative processes during chondrogenesis lead a better understanding OA. microRNAs (miRNAs) are key regulators chondrocytes/OA, we have used combined experimental, bioinformatic, systems biology approach explore multiple miRNA–mRNA interactions that regulate chondrogenesis. A longitudinal bioinformatic analysis identified paralogues miR-199a-5p miR-199b-5p as pro-chondrogenic...
Huntington’s disease (HD) is an autosomal dominant triggered by expansion of CAG nucleotides in the HTT gene. The correlates with age onset HD, however, clinical markers HD can be seen patients’ years before symptoms. Thus, it would interest to identify molecular biomarkers which indicate predisposition development and as microRNAs (miRNAs) circulate bio-fluids they particularly useful biomarkers. We explored a large miRNA-mRNA expression dataset (GSE65776) using bioinformatics machine...
Abstract Background Huntington’s disease (HD) is an autosomal dominant which triggered by a large expansion of CAG nucleotides in the HTT gene. While linearly correlates with age onset HD, twin-studies and cohorts Juvenile Onset HD (JOHD) patients have shown other factors influence progression HD. Thus, it would be interest to identify molecular biomarkers indicate predisposition development as microRNAs (miRNAs) circulate bio-fluids they particularly useful biomarkers. We explored...
Dr Krutik Patel has recently completed his PhD in bioinformatics at Newcastle University and since been employed as a research associate. His interests are applying data science techniques to answer interesting questions biology developing software for researchers. He started undergraduate training genetics the of Manchester also MSci project there.
Bioinformatics has revolutionized the modern life sciences and become a component of many undergraduate training courses post-graduate research projects. As such, we are seeing more bioinformatics programming aspects within so it is important to understand what is, why necessity in how young academics can begin their journey as bioinformaticians. This article outlines broad spectrum used for labs provides several resources beginners learn code perform bioinformatic tasks.
Abstract Changes in chondrocyte gene expression can contribute to the development of osteoarthritis (OA), and so recognition regulative processes during chondrogenesis lead a better understanding OA. microRNAs (miRNAs) are key regulators chondrocytes/OA we have used combined experimental, bioinformatic, systems biology approach explore multiple miRNA-mRNA interactions that regulate chondrogenesis. A longitudinal bioinformatic analysis identified paralogues miR-199a-5p miR-199b-5p as...
Abstract microRNAs (miRNAs) are non-coding RNAs which modulate the expression of other RNA molecules. One miRNA can target many transcripts, allowing each to play key roles in biological pathways. miR-324 is a previously implicated bone and cartilage maintenance, defects result common age-related diseases, such as osteoporosis or osteoarthritis (OA). In global miR-324-null mice damage was increased both surgically ageing-induced OA, despite minimal changes transcriptome, with few predicted...
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the occurring ETFDH . Recent evidence potential founder for MADD South African (SA) population, initiated this extensive investigation. As part ICGNMD study, we recruited a cohort patients diagnosed academic medical centres across SA over three-year period. The aim was to extensively profile clinical, biochemical,...