The Genetic Epidemiology group at the University of Leicester has a Medical Research Council Doctoral Training Grant PhD studentship to start in the 2012/13 academic year. The project will focus on the detection of rare genetic variants associated with lung function and lung disease (COPD). A brief outline of the project is given at the end of this advertisement. 

We are seeking individuals either with strong statistics or mathematics backgrounds with an interest in developing and/or applying statistical methods for biological applications, or individuals with a strong biological background and ideally an MSc in statistics, quantitative genetics or related discipline. 

The studentship will be under the supervision of Dr. Louise Wain and Prof. Martin Tobin (Departments of Health Sciences and Genetics) and will involve collaboration with colleagues in and outside Leicester, thus ensuring a rich research environment at the interface of statistics, medicine and genetics. Genetic epidemiology is a growing field with excellent postdoctoral employment opportunities. Further information can be obtained by contacting either Louise Wain ([log in to unmask]) or Martin Tobin ([log in to unmask]). 

The studentship will last for 3.5 years and will cover University Registration Fees at Home/EU rates, a Student Stipend at Research Council rate (currently £13,590 per annum) and a Research Support Grant (including a travel allowance). Note: if an international student is appointed then the difference between Home/EU and International Registration Fees must be paid by the student.

Applicants should apply online to the link below, including a statement of interest (no more than 1 page) and attaching a CV with details of two referees:
http://www2.le.ac.uk/study/postgrad/how-to-apply/applyphd  
Instructions for use of the online application: select full-time, health sciences research, Oct 1 2012 intake. Please ensure that you include the reference: MRC-12/01

The closing date for applications is Monday 30th January 2012. Shortlisted applicants will be expected to be available for interview (provisional date 8th February).

Project outline
Chronic obstructive pulmonary disease (COPD) encompasses chronic bronchitis and emphysema and is a major cause of disability and the fourth leading cause of death worldwide. It is diagnosed when lung function declines below a commonly accepted clinical threshold. There are over 900,000 diagnosed COPD cases in the UK and over 12 million COPD cases in the US. Although smoking is a potent cause of COPD, genetic variation means that not all smokers are equally at risk of COPD. 
Recent breakthroughs from genome-wide association studies (GWAS) have improved our understanding of the common genetic variants (single nucleotide polymorphisms, SNPs) that affect the risk of COPD. For example, work co-led by our group has discovered 21 of the 26 SNPs known to be associated with lung function (papers published in Nature Genetics in 2010 and 2011) and 8 of these variants have so far shown association with COPD. Collectively the variants explain a modest proportion of the variance in lung function. The detection of rare sequence variants with a large effect on COPD or lung function will explain some of the “missing heritability” and, more importantly, will have particular utility for clinical translation.

A novel SNP genotyping platform (the “exome chip”) has been developed which contains over 200,000 low frequency genetic variants not yet assayed in genome-wide association studies. This platform focuses on variation in the parts of genes (exons, collectively called the “exome”) which directly code for the amino acid building blocks of proteins. The exome chip is enriched for those variants most likely to directly affect the protein structure and function.  

This project will involve the study of rare variants associated with lung function and/or COPD. Exome chip data on over 200,000 rare variants will be available for 4000 COPD cases and ~15000 controls; quantitative lung function measures are available for several thousand population-based controls. The study of rare variants brings many interesting analytical challenges that can impact on the conclusions drawn from the study. These include genotype calling methods (which typically involve clustering multiple individuals sharing similar genotypes), quality control approaches, dealing with subtle differences in ancestry and methods to pool information across multiple rare variants which may share similar effects on function (for example, variants in the same gene). Depending on the abilities and interests of the student there will be scope to develop the project in different ways, including development of statistical methodology for a mathematically able student, or follow-up studies aimed at developing further the understanding of one or more of the molecular mechanisms underlying lung function and COPD risk. Additional work in progress in the team is focused on the study of rare variants via genome re-sequencing and there may be scope for the student to develop skills in the analysis of re-sequencing data. The student will receive guidance and training in all relevant aspects of genetic epidemiology including study design, analytical techniques and interpretation. 

The student will be encouraged to identify and attend relevant short courses outside of the University, such as the Wellcome Trust Leena Peltonen School of Human Genomics or the Cold Spring Harbor Genetics of Complex Human Diseases Course. The student will also be expected to present research at international conferences.

The PhD studentship is funded by a Medical Research Council Doctoral Training Grant dedicated to Respiratory Research. The student will join a group leading high-profile respiratory genomics research and will have access to excellent training facilities and research opportunities within the University and in partnership with the recently awarded NIHR Respiratory Biomedical Research Unit.  
The College, headed by Pro-Vice-Chancellor Professor David Wynford-Thomas, is a highly successful community of academics based in laboratory, clinical, health and social science settings. This collaboration between laboratory scientists, health professionals and non-clinical academics ensures the very best environment for internationally excellent research, attracting new research grants and awards, new colleagues, partnerships with the NHS, industry and the public sector. We are delighted to support a growing population of Postgraduate Students and Research Associates and Fellows.
Leicester University is one of the UK's leading universities, committed to international excellence through the creation of world changing research and high quality, inspirational teaching. It is consistently in the top 20 of all national tables and in 2010 was ranked in the top 2% of world universities by the QS World University Rankings.

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