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Position: Research Fellow
Institution: University College London
Department: Great Ormond Street Institute of Child Health
Location: London, United Kingdom
Duties: You will be involved in projects aimed at identify the causative genetic defect in patients with congenital myopathy and congenital muscular dystrophy by applying Omics methods (whole exome/genome sequencing, RNA-seq). The main duties of the post are to analyse the identified genetic variants in the patients and to perform functional validation of the candidate causative genes
Requirements: Applicants must have a PhD in a relevant subject, will have experience in analysis of whole exome/genome sequencing data, cell and molecular biology techniques, including cell culture, PCR, RT-PCR, molecular cloning and zebrafish work
   
Text: Research Fellow, - Ref:1778957 Click here to go back to search results Apply Now UCL Department / Division Great Ormond Street Institute of Child Health Location of position London Grade 7 Hours Full Time Salary (inclusive of London allowance) ?35,328- ?42,701 per annum Duties and Responsibilities Applications are invited for a Research Fellow to join a well-funded, highly interactive research group led by Professor Francesco Muntoni which is investigating the molecular basis of, and treatment for, neuromuscular diseases. You will be involved in projects aimed at identify the causative genetic defect in patients with congenital myopathy and congenital muscular dystrophy by applying Omics methods (whole exome/genome sequencing, RNA-seq). The main duties of the post are to analyse the identified genetic variants in the patients and to perform functional validation of the candidate causative genes. Techniques will be very varied, and include the use of analysis tools for filtering genetic variants based on their frequency and predicted pathogenicity and applying an array of methods (RT-PCR, immunohistochemistry, confocal analysis, western blots) to demonstrate the effect of the mutation on expression and localization of the mutated transcript and protein. The work will also involve functional analysis of the genes in Zebrafish models. This post offers an exciting opportunity for candidates seeking to carry out research in neuromuscular diseases within an established national centre of excellence. This post is funded for 12 months, in the first instance with a possibility of funding for one more year. Key Requirements Applicants must have a PhD in a relevant subject, will have experience in analysis of whole exome/genome sequencing data, cell and molecular biology techniques, including cell culture, PCR, RT-PCR, molecular cloning and zebrafish work. Further Details A job description and person specification can be accessed at the bottom of this page. To apply for the vacancy please click on the ?Apply Now? button below. If you have any queries regarding the application process please contact Madhur Sharma on ich.hr@ucl.ac.uk quoting job reference number. UCL Taking Action for Equality Closing Date 1 Jan 2019 Latest time for the submission of applications 23:59 Interview date 10 January 2019 Our department holds an Athena SWAN Silver award, in recognition of our commitment and demonstrable impact in advancing gender equality. This appointment is subject to UCL Terms and Conditions of Service for Research and Support Staff. Please use these links to find out more about UCL working life including the benefits we offer and UCL Terms and Conditions related to this job. Job Description and Person Specification Apply Now
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