Research Assistant/Associate - Mitochondrial And Neuromuscular Diseases

Company description: We are a world class research-intensive university. We deliver teaching and learning of the highest quality. We play a leading role in economic, social and cultural development of the North East of England. Attracting and retaining high-calibre people is fundamental to our continued success. Job description: Research Assistant: £31,396 to £32,982 per annum Research Associate: £33,966 to £44,263 per annum The Role We are seeking an enthusiastic and motivated scientist who is passionate about the application of cutting-edge sequencing technologies to investigate the genetic basis of childhood mitochondrial disease and congenital disorders of macroautophagy. Mitochondrial disease represents a group of inborn errors of metabolism and there is no cure; affected children often have poor prognosis and limited treatment options. Given the extensive clinical and genetic heterogeneity - and organ with energy demands can be affected and it can be inherited in either a recessive, dominant, matrilineal or de novo manner - and with a candidate gene pool of over 1100 genes, identifying the genetic basis is challenging but knowledge of the causative genetic variant is hugely valuable to a patient and their family. It may affect clinical management, but is vital to facilitates access to genetic counselling and the opportunity for parents to have clinically-unaffected children in future. You will be working in the Mitochondrial Research Group under the supervision of Dr Charlotte Alston and Professor Rob Taylor and will be investigating the genetic basis of paediatric mitochondrial disease and disorders of autophagy. Both Dr Alston and Professor Taylor are Principal Investigators within the Mitochondrial Research Group but also hold substantive posts within the NHS Highly Specialised Service for Rare Mitochondrial Disorders and the North-East and Yorkshire Genomics Laboratory Hub (NE&Y GLH). You will take a lead role in the analysis of genomic sequencing data from clinically-affected children and their unaffected parents, to help establish the genetic basis of their rare disease presentation. You will be interested in identifying the cause of mitochondrial disease and understanding the mechanisms through which these pathogenic variants cause pathology. You will be positioned at the translational interface between research and diagnostic teams which will allow you - together with your supervisor - to translate this new knowledge into clinically-actionable results whilst improving our fundamental understanding of the underlying disease mechanisms and basic mitochondrial biology. You will have a very strong background in disorders of macroautophagy and wider human genetics with experience in the functional validation of potential disease-causing variants using molecular biology techniques including CRISPR/Cas9 gene editing, assessment of autophagic flux, high-resolution cell imaging, SDS-PAGE and western blotting, cDNA analysis and mammalian cell culture. You should have excellent communication skills and be able to work independently and as part of a supportive multidisciplinary team. The group has a strong commitment to both personal and professional development, and you will be supported and encouraged to develop your own ideas within the scope of the group's interests. We encourage anyone who is enthusiastic and who meets the ‘Essential Skills' detailed below to apply. The post is available on a full time, fixed term basis until 31st March 2025. Please note that if you are successful to this role, you will require medical clearance before you can commence in the role. For informal enquiries regarding the role, please contact Dr Charlotte Alston or Professor Rob Taylor