IMPERIAL COLLEGE LONDON JOB DESCRIPTION Job Title: Research Associate in Statistical Genetics (SM188-13) School: Public Health Department: Genomics of Common Disease Job Family / Level: Academic and Research, Level B Salary Range: £28,770 – £41, 540 per annum Responsible to: Dr Mario Falchi Contract: Full time and fixed term for 2 years Location: Hammersmith Hospital Campus, East Acton Research Programme and Job Summary: The Department of Genomics of Common Disease is a world leader in genomic research of common human diseases. As part of a major expansion of our research activities, in collaboration with the Department of Mathematics we are reinforcing our computational biology team, and are seeking to recruit candidates for three postdoctoral research associate positions within the Department of Genomics of Common Disease, one position for each of a statistician, a bioinformatician and a computer scientist. Successful candidates will harness statistical and computational approaches to develop and apply integrative genomic methods aimed at the identification of genomic and non-genomic biomarkers and their interactions, involved in phenotypic variation in humans. They will integrate information from multiple data sources, including genomic sequencing, structural variant, epigenetic and transcriptomic multi-tissue data, and phenome data (quantitative and end-point phenotypes, environmental variables, clinical parameters, NMR and mass-spec metabolomics data), to build their interaction networks and infer the underlying biological pathways. Close interaction with the genomics laboratories within the Department will allow further refinement and validation of the computational models. Current projects aim to disentangle the genomic basis of a wide range of end stage qualitative phenotypes including metabolic diseases, cancer, ageing, and renal diseases, as well as quantitative phenotypes measured in the healthy and diseased population. Among these projects, particular attention will be given by the computational biology team to two integrative genomics studies, one aimed at the identification of noninvasive diagnostic biomarkers in IgA nephropathy, and another aiming to disentangle the genetic link between reduced biological senescence and melanoma. IgA nephropathy (IgAN) is the most common form of primary glomerulonephritis, leading to end-stage renal disease in up to 40% of patients, who thus require dialysis or kidney transplant within 20 years of renal biopsy-proven diagnosis. In addition, since this disease can run in families, there is a need for a test to predict whether relatives of patients might develop the disease. This project will use a family-based design to identify novel genetic/genomic variants for IgA susceptibility through nextgeneration sequencing data, that will be combined together with clinical and biochemical parameters and histopathological features in a predictive model to be tested and refined using an independent IgAN sample. This approach will yield a non-invasive tool of valuable help for physicians, for: (1) Better assessment of prognosis in patients with established IgAN, which may also allow stratification of treatment; (2) Better prediction of the risk of IgAN in relatives of affected patients; (3) Pathophysiological insights, to drive the development of new therapies. The project will be developed in close collaboration with Professors Terence Cook, Matthew Pickering and Charles Pusey at Imperial College and Professor Paolo Schena of the University of Bari. The aim of the melanoma study is to disentangle the inverse relationship that has been observed between ageing and melanoma susceptibility, by taking advantage of a unique resource consisting of existing genome-wide genetic data and gene expression in more than 800 skin biopsies from disease-unselected twins from the MuTHER Consortium. The sample has been carefully characterized for naevus density and skin phenotypes, and for an extensive number of molecular and clinical ageing-related phenotypes. High naevus count, one of the strongest risk factors for melanoma, has been linked to reduced senescence in cells of high-risk individuals. Furthermore, individuals with high number of naevi were found to be protected against ageing phenotypes such as osteoporosis, thus showing that this reduced senescence is not melanocyte specific. The goal of the study is to identify regulatory networks (describing biological pathways) and genes linking melanoma risk and reduced senescence, and to characterize their tissue-specific (or systemic) effects by exploiting additional genome-wide expression data in muscle, adipose tissue and lymphocyte cell lines from the same subjects. The project will be developed in collaboration with Dr Veronique Bataille and Professor Tim Spector (King’s College London). Other studies carried out in the Department include a variety of study designs, including genetic isolates, in which individuals are related to each other through multiple lines of descent. An additional aim of the computational biology team will therefore be to extend novel and available methods to allow data integration in correlated samples. This project will be developed in collaboration with the Qatar Biobank, Qatar Biomedical Research Institute (QBRI), and Qatar Computing Research Institute (QCRI). The post-holder will become a part of the interdisciplinary team of statisticians, computational biologists, mathematicians as well as geneticists and molecular biologists based at the Department of Genomics of Common Disease and will report to Dr Mario Falchi. The post-holder will take responsibility for and co-ordinate data modelling, analysis and interpretation for the Department research activities, in cooperation with other statistical geneticists and bioinformaticians at Imperial College London and other collaborating research centres. The post-holder will also work closely with the other staff of the Department of Genomics of Common Disease (including Professor Philippe Froguel, Dr Inga Prokopenko, Dr Toby Andrew) and Dr Leonardo Bottolo from the Department of Mathematics at Imperial College London. The post-holder will also liaise with existing collaborators at various sites across the UK and Europe. Research Duties: The specific duties of the post-holder are as follows: To publish in high quality journals and to present data at national and international meetings To take responsibility for and to co-ordinate their own scientific work with other Group members as required To take a leading part in the Group’s research meetings, internal seminars and academic activities To maintain organised and accurate record of their work To conduct data analysis, ensuring the validity and reliability of data at all times To collaborate with affiliated scientists and other researchers within Imperial College and elsewhere in London or abroad, as appropriate To assist in the supervision of undergraduate and postgraduate research students and Research Assistants as required These duties may change over the course of the post in line with the objectives of the Department. Other Duties To undertake appropriate administrative tasks To undertake any necessary training and/or development To comply with the College, School, and Departmental safety practices and to attend courses on safety as appropriate To observe and comply with all College policies and regulations, including the key policies and procedures on Confidentiality, Conflict of Interest, Data Protection, Equal Opportunities, Financial Regulations, Health and Safety, Imperial Expectations (for new leaders, managers and supervisors), Information Technology, Private Engagements and Register of Interests, and Smoking To undertake specific safety responsibilities relevant to individual roles, as set out on the College Website Health and Safety Structure and Responsibilities page http://www3.imperial.ac.uk/safety/policies/organisationandarrangements Any other duties commensurate with the grade of the post as directed by the head of department Job descriptions cannot be exhaustive and so the post holder may be required to undertake other duties, which are broadly in line with the above key responsibilities. Imperial College is committed to equality of opportunity and to eliminating discrimination. All employees are expected to adhere to the principles set out in our Equal Opportunities in Employment Policy, Promoting Race Equality Policy and Disability Policy and all other relevant guidance/practice frameworks. PERSON SPECIFICATION Qualifications Essential A PhD or equivalent in statistical genetics Knowledge / Experience Essential A strong background and publication track record in the areas of statistical genetics Experience in analysis of high-dimensional data Evidence of high level of proficiency in at least one scripting language (e.g. Perl, Python) Evidence of high level of proficiency in standard data modelling packages (R, STATA, Matlab) Desirable Extensive postdoctoral research experience in an established statistical genetics research group Experience in analyses of large scale array and next-generation sequencing data Understanding of signal treatment and analysis of mass spectrometry and NMR data Knowledge and experience of gene regulatory network inference using graphical models Knowledge and experience in methods for data mining Skills and Abilities Essential Excellent writing, presentation, and communication skills Excellent verbal communication skills Demonstrable ability to innovate, and ability to trouble-shoot technical problems Ability to communicate clearly with scientists from multi-disciplinary backgrounds Ability to organise own workload with minimal supervision Ability to prioritise a varied workload and work under pressure to meet deadlines while maintaining a high level of accuracy Must be self-motivated with excellent organizational skills Ability to work well independently and as part of a team, being prepared to work at a high level of productivity Ability to deal with colleagues in a professional manner at all times Ability to change and adapt according to the development of the project Personal Attributes Essential Creative approach to problem solving Ability to assist in directing junior researchers and assist in motivating others to produce a high standard of work Ability to prioritise own work in response to deadlines Ability to exercise initiative and work independently Other Essential Willingness to travel both within the United Kingdom and abroad to conduct research and attend conferences Imperial Expectations These are the 7 principles that Imperial leaders, managers and supervisors are expected to follow: 1) Champion a positive approach to change and opportunity 2) Communicate regularly and effectively within, and across, teams 3) Consider the thoughts and expectations of others 4) Deliver positive outcomes 5) Encourage inclusive participation and eliminate discrimination 6) Support and develop staff to optimise talent 7) Work in a planned and managed way APPLICATION GUIDANCE Please read the person specification carefully and describe, as part of your application, how much you feel you meet each of the criteria. To facilitate completing your application, please prepare the following information: A cover letter describing your research interests and why you wish to apply for the position Current curriculum vitae Date that you anticipate starting a postdoctoral position Your CV it should include the following information: Applicant’s full name, private address and private telephone number A confidential e-mail address and fax number, where possible Degrees (including University and dates) Past and present posts List of publications Names, addresses and email for three referees. Thank you for your interest in this post. We look forward to receiving your application.