adam's project
My PhD project is focussed on the non-selective cation channel TRPV1 (also known as the capsaicin receptor) and its involvement in the development of the lymphatic system in zebrafish models. The channel is known to be activated by multiple different environmental stressors such as pH, temperature and pressure. It responds to these stresses by generating an influx of calcium into the cell which modulates multiple key cellular processes such as apoptosis and mitosis. I am mainly conducting knockdown experiments to see if modulation of this pathway has any effect on the development (through staging and immunostaining), or the behaviour of the animal. In addition to this, I am investigating downstream signalling and pathways though NGS and qPCR followed with bioinformatics approaches. I’m using heat and a known activator called 2-APB (2-aminoethoxydiphenyl borate) to regulate the channel. The overall aim of this study is to better understand the organismal response to environmental stressors. Additionally, this knowledge can also be expanded into human pathobiology and how stressful conditions such as disease states can affect the rate of lymphatic development, as I hypothesise that the stressful conditions will upregulate lymphangiogenesis. I have shown that genes that are involved in the stress response in animals are also dysregulated in human cancers in a collaborative preprint paper.
Bio:
I have always been interested in genetics and molecular biology and their roles in disease. I began by studying a Bsc Biomedical science at the University of Sunderland, where I specialised in molecular biology and genetics and did a final year project on inbreeding in adder populations in the North York moors. I followed this degree with a MRes in medical genetics at Newcastle University where I worked in the centre for life in the John Walton Muscular Dystrophy research group, performing exome sequencing analysis and diagnosing patients through combing evidence from their genetic mutations, biopsies and EMG readings with unexplained muscle weakness as part of an international collaboration.
Bibliography:
Töpf, A., Johnson, K., Bates, A., Phillips, L., Chao, K. R., England, E. M., ... & Straub, V. (2020). Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genetics in Medicine, 22(9), 1478-1488.
Wollenberg Valero, K. C., Garcia-Porta, J., Irisarri, I., Feugere, L., Bates, A., Kirchhof, S., ... & Storey, K. B. (2019). Abiotic environmental adaptation in vertebrates is characterized by functional genomic constraint (PREPRINT). bioRxiv, 726240.
Nascimento, A., Ortez, C., Jou, C., Alarcón, M., Bates, A., Topf, A., ... & Colomer, J. (2017). Congenital muscular dystrophy with cataracts and mild cognitive impairment cause by mutations in INPP5K: Overlapping Marinesco-Sjögren syndrome and dystroglycanopathy. Neuromuscular Disorders, 27, S110.
Bio:
I have always been interested in genetics and molecular biology and their roles in disease. I began by studying a Bsc Biomedical science at the University of Sunderland, where I specialised in molecular biology and genetics and did a final year project on inbreeding in adder populations in the North York moors. I followed this degree with a MRes in medical genetics at Newcastle University where I worked in the centre for life in the John Walton Muscular Dystrophy research group, performing exome sequencing analysis and diagnosing patients through combing evidence from their genetic mutations, biopsies and EMG readings with unexplained muscle weakness as part of an international collaboration.
Bibliography:
Töpf, A., Johnson, K., Bates, A., Phillips, L., Chao, K. R., England, E. M., ... & Straub, V. (2020). Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genetics in Medicine, 22(9), 1478-1488.
Wollenberg Valero, K. C., Garcia-Porta, J., Irisarri, I., Feugere, L., Bates, A., Kirchhof, S., ... & Storey, K. B. (2019). Abiotic environmental adaptation in vertebrates is characterized by functional genomic constraint (PREPRINT). bioRxiv, 726240.
Nascimento, A., Ortez, C., Jou, C., Alarcón, M., Bates, A., Topf, A., ... & Colomer, J. (2017). Congenital muscular dystrophy with cataracts and mild cognitive impairment cause by mutations in INPP5K: Overlapping Marinesco-Sjögren syndrome and dystroglycanopathy. Neuromuscular Disorders, 27, S110.
