A5002158740- RNA Interference and Gene Delivery
- Molecular Biology Techniques and Applications
- Cancer Genomics and Diagnostics
- Genetic and Kidney Cyst Diseases
- Ultrasound in Clinical Applications
- Radiology practices and education
- Genomics and Rare Diseases
- SARS-CoV-2 detection and testing
- Advanced biosensing and bioanalysis techniques
- Renal and related cancers
- Genomics and Chromatin Dynamics
- Renal cell carcinoma treatment
- Ion channel regulation and function
- Cystic Fibrosis Research Advances
- Simulation-Based Education in Healthcare
- Microtubule and mitosis dynamics
- Biomedical and Engineering Education
- Pancreatic and Hepatic Oncology Research
- Social Media and Politics
- Biosensors and Analytical Detection
- Amyotrophic Lateral Sclerosis Research
- Web and Library Services
- Genomic variations and chromosomal abnormalities
- Blood Pressure and Hypertension Studies
- Social Media in Health Education
Edinburgh Cancer Research
2022-2024
Western General Hospital
2020-2024
University of California, Berkeley
2024
Institute of Molecular and Cell Biology
2023
Medical Research Council
2019-2020
University of Edinburgh
2016-2020
Institute of Genetics and Cancer
2016-2020
NHS Lothian
2020
Illinois State University
2019
Memorial University of Newfoundland
2015-2017
Tubulin, one of the most abundant cytoskeletal building blocks, has numerous isotypes in metazoans encoded by different conserved genes. Whether these distinct form cell type– and context-specific microtubule structures is poorly understood. Based on a cohort 12 patients with primary ciliary dyskinesia as well mouse mutants, we identified characterized variants TUBB4B isotype that specifically perturbed centriole cilium biogenesis. Distinct differentially affected dynamics cilia formation...
With the ongoing COVID-19 (Coronavirus Disease 2019) pandemic, caused by novel coronavirus SARS-CoV-2 (Severe Acute Respiratory Syndrome Coronavirus 2), there is a need for sensitive, specific, and affordable diagnostic tests to identify infected individuals, not all of whom are symptomatic. The most sensitive test involves detection viral RNA using RT-qPCR (quantitative reverse transcription PCR), with many commercial kits now available this purpose. However, these expensive, supply such in...
Genetic understanding of motor neuron disease (MND) has evolved greatly in the past 10 years, including recent identification association between MND and variants TBK1 NEK1. Our aim was to determine frequency pathogenic known genes assess whether NEK1 contribute burden Scottish population. SOD1, TARDBP, OPTN, TBK1, were sequenced 441 cases 400 controls. In addition 44 carry a C9orf72 hexanucleotide repeat expansion, we identified 31 2 controls that carried loss-of-function or variant....
Abstract Background Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most cases are inherited recessively, due to variants in >50 genes that result abnormal or absent This leads chronic upper and lower airway disease, subfertility, laterality defects. Given overlapping clinical features heterogeneity, diagnosis can be difficult often occurs late. Of those tested an estimated 30% of genetically screened PCD patients still lack molecular diagnosis. A allows for...
Abstract Background Multi-allelic copy number variants include examples of extensive variation between individuals in the important genes, most notably genes involved immune function. The definition this variation, and analysis its impact on function, has been hampered by technical difficulty large-scale but accurate typing genomic number. copy-variable alpha-defensin locus DEFA1A3 human chromosome 8 commonly varies 4 10 copies per diploid genome, presents considerable challenges for...
With the various applications of point-of-care ultrasound (PoCUS) steadily increasing, many medical schools across North America are incorporating PoCUS training into their undergraduate curricula. The Faculty Medicine at Memorial University also intends to introduce its own program. proposed approach is a curriculum focusing on anatomy and physiology while developing cognitive psychomotor skills that later transferred clinical applications. This has been common taken by most programs in...
Background The introduction of ultrasound into the undergraduate medical school curriculum is gaining momentum in North America. At present, many institutions are teaching to students using a traditional framework designed instruct practicing clinicians, or have modeled on other universities. This approach not based educational needs supported by evidence. Methods Using descriptive, cross-sectional survey stakeholder groups, we assessed perceived relevance various skills and attitude towards...
Abstract Background Despite the emergence of cell-free DNA (cfDNA) as a clinical biomarker in cancer, tissue origins cfDNA healthy individuals have to date been inferred only by indirect and relative measurement methods, such tissue-specific methylation nucleosomal profiling. Methods We performed first direct, absolute cfDNA, using knockout mouse strains, both mice following paracetamol (APAP) overdose. then investigated utility total percentage liver-specific biomarkers patients presenting...
Abstract Cilia are small microtubule-based structures found on the surface of most mammalian cells, which have key sensory and sometimes motile functions. Primary ciliary dyskinesia (PCD) is a type ciliopathy caused by defects in cilia. The genetic basis PCD only partially understood. Studying cohort 11 human patients with PCD, we find that de novo mutations TUBB4B , beta tubulin isotype, cause three distinct classes ciliopathic disease. In vivo studies mice show Tubb4b plays specific role...
Abstract K 2P potassium channels regulate excitability by affecting cellular resting membrane potential in the brain, cardiovascular system, immune cells, and sensory organs. Despite their important roles anesthesia, arrhythmia, pain, hypertension, sleep, migraine, ability to control function remains limited. Here, we describe a chemogenetic strategy termed CATKLAMP ( C ovalent A ctivation of T REK family + c LA mp M embrane P otential) that leverages discovery site modulator pocket reacts...
The determination of structural haplotypes at copy number variable regions can indicate the mechanisms responsible for changes in number, as well explain relationship between gene and expression. However, obtaining spatial information displaying extensive variation, such DEFA1A3 locus, is complex, because difficulty phasing assembly these regions. locus intriguing that it falls within a region high linkage disequilibrium, despite its variability (n = 3–16); hence, this are unclear. In study,...
The Royal College CanMEDS framework has become a guide for medical school curricula. This aims to improve patient care by identifying and explaining seven key roles that physicians must fulfill in order deliver high-quality healthcare their patients. While schools incorporate these teaching processes, students can also apply them outside the classroom. Here, we describe unique model developed at Memorial University of Newfoundland’s Tuckamore Simulation Research Collaborative (TSRC), where...
Abstract Aim Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most cases are inherited recessively, due to variants in more than 50 genes that result abnormal or absent This leads chronic upper and lower airway disease, sub-fertility laterality defects some cases. Given overlapping clinical features heterogeneity, diagnosis can be difficult often occurs late. Of those tested, an estimated 30% of genetically screened PCD patients still lack molecular diagnosis....
Abstract Background Despite the emergence of cell-free DNA (cfDNA) as a clinical biomarker in cancer, tissue origins cfDNA healthy individuals have to date been inferred only by indirect and relative measurement methods, such tissue-specific methylation nucleosomal profiling. Methods We performed first direct, absolute cfDNA, using knockout mouse strains, both mice following paracetamol (APAP) overdose. then investigated utility total percentage liver-specific biomarkers patients presenting...
Abstract With the ongoing COVID-19 pandemic, caused by novel coronavirus SARS-CoV-2, there is need for sensitive, specific and affordable diagnostic tests to identify infected individuals, not all of whom are symptomatic. The most sensitive test involves detection viral RNA using RT-qPCR, with many commercial kits now available this purpose. However, these expensive supply such in sufficient numbers cannot always be guaranteed. We therefore developed a multiplex assay well-established...