A5059927050- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Circadian rhythm and melatonin
- Neurobiology and Insect Physiology Research
- Genetics, Aging, and Longevity in Model Organisms
- Receptor Mechanisms and Signaling
- Genetic factors in colorectal cancer
- Neuropeptides and Animal Physiology
- Cell Adhesion Molecules Research
- Cancer-related gene regulation
- Insect Utilization and Effects
- Metabolism, Diabetes, and Cancer
- RNA modifications and cancer
- Genetic Mapping and Diversity in Plants and Animals
- COVID-19 Clinical Research Studies
- Plant Molecular Biology Research
- Genetic Syndromes and Imprinting
- Plant Reproductive Biology
- SARS-CoV-2 and COVID-19 Research
- Genomic variations and chromosomal abnormalities
- COVID-19 epidemiological studies
- Erythrocyte Function and Pathophysiology
- Calcium signaling and nucleotide metabolism
- Gene Regulatory Network Analysis
University College London
2017-2020
Great Ormond Street Hospital
2017-2019
Imperial College London
2015-2017
University of Oxford
2009-2012
Adhesion class G protein-coupled receptors (aGPCR) form the second largest group of seven-transmembrane-spanning (7TM) whose molecular layout and function differ from canonical 7TM receptors. Despite their essential roles in immunity, tumorigenesis, development, mechanisms aGPCR activation signal transduction have remained obscure to date. Here, we use a transgenic assay define protein domains required vivo for activity prototypical LAT-1/Latrophilin Caenorhabditis elegans. We show that GPCR...
Background Rare genetic conditions are frequent risk factors for, or direct causes of, paediatric intensive care unit (PICU) admission. Such frequently suspected but unidentified at PICU Compassionate and effective is greatly assisted by definitive diagnostic information. There therefore a need to provide rapid diagnosis inform clinical management. To date, whole genome sequencing (WGS) approaches have proved successful in diagnosing proportion of children with rare diseases, results may...
Biological systems are subject to inherent stochasticity. Nevertheless, development is remarkably robust, ensuring the consistency of key phenotypic traits such as correct cell numbers in a certain tissue. It currently unclear which genes modulate variability, what their relationship core components developmental gene networks, and basis variable phenotypes. Here, we start addressing these questions using robust number Caenorhabditis elegans epidermal stem cells, known seam readout. We...
Initially described as an uncommon presenting feature of Sotos syndrome (SoS), over the last decades, congenital hyperinsulinaemic hypoglycaemia (CHI) has been increasingly reported in association with this condition. The mechanism responsible for CHI SoS is unclear. We report case a neonate and extensive venous arterial thrombosis associated kidney, heart, liver, skeleton, brain abnormalities finally diagnosed on whole genome sequencing. Our describes extended phenotype (including liver...
Abstract Background Rare genetic conditions are frequent risk factors for, or direct causes of, organ failure requiring paediatric intensive care unit (PICU) support. Such frequently suspected but unidentified at PICU admission. Compassionate and effective is greatly assisted by definitive diagnostic information. There therefore a need to provide rapid diagnosis inform clinical management. To date, Whole Genome Sequencing (WGS) approaches have proved successful in diagnosing proportion of...
<h3>Background</h3> Great Ormond Street Hospital cares for many children with rare and complex disease. A substantial proportion of these will have an underlying genetic cause their condition. Making a diagnosis in such cases is increasingly achievable due to advances genomic testing. However, testing may not be available on the NHS results, when accessed research setting, typically take months report. In critically ill children, cared intensive care units, timely beneficial number levels....