Faculty of Medicine and Health, School of Medicine
Leeds Institute of Biomedical & Clinical Sciences
Section of Ophthalmology and Neuroscience
Research Fellow, 100% of full time basis
Based at St James’s University Hospital
This post is fixed term for 3 years and is available from 1st January 2015
Applications are invited for a Research Fellow post based within the Leeds Vision Research Group
(VRG) of Prof Chris Inglehearn, Dr Manir Ali, Mr Martin McKibbin and Dr Carmel Toomes, studying
the genetics/molecular biology of inherited retinal dystrophies (IRDs). IRDs are a heterogeneous
group of conditions that lead to loss or dysfunction of photoreceptor cells. The post is funded by a
grant awarded jointly by the UK charities Retinitis Pigmentosa Fighting Blindness (RPFB) and Fight
For Sight (FFS). Its aim is to support genetic screens, analysis and interpretation of findings in the
search for novel IRD genes and proteins, in collaboration with researchers in three other centres;
Manchester University and Manchester Royal Eye Hospital; UCL Institute of Ophthalmology and
Moorfields Eye Hospital, London; and the University of Oxford and Oxford Eye Hospital.
You will be responsible for leading the research to map and identify human gene variants that
underlie IRDs. You will prioritise cases and families for pre-screening, use whole exome (WES),
whole genome (WGS) or transcriptome (RNAseq) sequencing to identify potential causative
variants, then apply bioinformatics filtering to determine the cause(s) of the IRD. You will deal
directly with colleagues from other centres in the consortium, facilitating exchange of data. Where
appropriate, you will also carry out expression analysis and functional testing using cell and
protein-based approaches and/or studying model organisms to substantiate findings.
The successful applicant will require a PhD in a relevant biomedical subject, a background in
human molecular genetics and an interest in medical genetics. They will have extensive practical
and theoretical knowledge of, and laboratory experience in, modern human molecular genetics
techniques, including next-generation sequencing and bioinformatics. A good working knowledge
of cell and molecular biology techniques is also essential. In addition candidates must be
enthusiastic and highly motivated and must have the ability to manage their time effectively and
work under pressure, exhibiting effective interpersonal, communication, and team-working skills.
The University of Leeds is committed to providing equal opportunities for all and offers a
range of family friendly policies (http://hr.leeds.ac.uk/homepage/4/policies). The University is a
charter member of Athena SWAN and holds the Bronze award. The School of Medicine
gained the Bronze award in 2013. We are committed to being an inclusive medical school
that values all staff, and we are happy to consider job share applications and requests for
flexible working arrangements from our employees.
University Grade 7 (£31,342 – £37,394 p.a) depending upon qualifications and experience
Informal enquiries regarding the post should be directed to Prof. Chris Inglehearn email:
c.inglehearn@leeds.ac.uk , tel +44 (0)113 343 8646
If you have any specific enquiries about your online application please contact Colette Cornelly tel
+44 (0)113 2069229; email c.l.cornelly@leeds.ac.uk or Sharon Collins tel+44 (0)113 2066949;
email s.collins@leeds.ac.uk
Job Ref: MHBCS1002
Closing Date: 10 November 2014
Job Description
Job Summary
The project will require a full practical and theoretical knowledge of modern techniques in human
molecular genetics and an in depth understanding of current knowledge of human IRDs. The
successful applicant will identify cases and/or families from the Leeds VRG patient cohort,
prioritising on phenotype, family structure and prior screening, and select the best approach for the
analysis of each. Some approaches may involve sending samples to partner labs while others,
including whole exome (WES), whole genome (WGS) or transcriptome (RNAseq) sequencing, will
be carried out by the appointee. The fellow will use these strategies to identify potential causative
variants, then apply a bioinformatics pipeline to determine the cause(s) of the IRD in each patient.
The fellow will also deal directly with colleagues from other centres in the consortium, facilitating
exchange of data. In addition, where appropriate, they will carry out expression analysis and
functional testing using cell and/or protein-based approaches and/or studying model organisms to
substantiate findings.
Main Duties & Responsibilities
Under the guidance of the principal investigator and other VRG colleagues, you will plan and
manage your own research activity, in collaboration with others as appropriate, assisting in
designing specific strategies towards achieving the research goals of the project and managing
individual components of the study. Core competencies will include;
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Curation of DNA samples and sensitive clinical information
Quality control of DNA samples for sending for pre-screening to partner laboratories
Preparation of libraries for whole exome, genome or transcriptome sequencing
Analysing next generation sequencing data to identify pathogenic mutations in IRD patients
Collation of current literature and available knowledge to prioritize candidate genes
Functional assays of wild-type and mutant proteins
Communicating and/or presenting research results within the Group and Section
Preparation of experimental data for external presentation and publication, writing drafts of
manuscripts, publishing outcomes from the project in appropriate high quality journals and
presenting at national or international conferences
Ensuring good day-to-day progress of the projects and contributing to strategic
development
Designing new experimental procedures and technical details
Developing independent and original ideas, as appropriate
Continually evaluating your working practices and protocols and adapting/evolving these
where necessary
Troubleshooting problems with optimisation, assay design, screening, data analysis and
validation and seeking solutions via published literature, company websites and personal
contacts.
Maintaining accurate and up-to-date laboratory and other records
Treating data with confidentiality and in accordance with current policies
Building internal and external contacts and participating in networks for the exchange of
information and for future collaboration
Working collaboratively with other staff/students within the Group, OPNE and other
research groups as appropriate, including external collaborators
Actively engaging with the regional human molecular genetics community, ensuring
research outputs are shared via existing networks and providing specialist knowledge to
others
Encouraging and promoting good working practices within the team and within the Institute
Providing guidance, support, training and assistance in relevant techniques to staff and
students within the Group and Section
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Working with the Principle Investigator to identify future opportunities for research and
preparing proposals and funding applications
Attending and contributing to relevant meetings
Being aware of the risks in the laboratory environment and working in accordance with the
GM and COSSH assessments
Contributing to GM, RA and COSSH assessments when appropriate.
Actively supporting and adhering to the Faculty’s commitment to Equality and Diversity in
line with the requirements of the Faculty Diversity Action Plan
Specific Molecular and cell biology techniques to be used will include:
o DNA/RNA extraction
o PCR for direct Sanger sequencing
o Library preparation for Next generation sequencing
o Bioinformatics analysis of NGS data
o Advanced microscopy techniques including confocal microscopy
o RT-PCR and quantitative (‘real-time’) RT-PCR
o Mammalian cell culture
o Recombinant DNA technology
o Transfection with plasmids or siRNA/shRNA
Please note, you may be required to work flexibly outside of normal working hours according to the
needs of the project.
Job descriptions cannot be exhaustive and you may be required to undertake other duties that are
broadly in line with the above key responsibilities.
Relationships
The post holder will be responsible on a day-to-day basis to the Principal Investigator, Prof. Chris
Inglehearn, through whom s/he will be accountable to the Director of the Institute and to the Dean
of the Faculty of Medicine & Health. S/he will be expected to interact with other members of the
Section of Ophthalmology and Neurosciences, comprising post-doctoral research fellows, PhD
students and research support staff, and to present data at Section and Institute meetings.
University Values
All staff are expected to operate in line with the university’s values and standards, which work as
an integral part of our strategy and set out the principles of how we work together. More
information about the university’s strategy and values is available at
http://www.leeds.ac.uk/comms/strategy/
Person Specification
Essential
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A PhD in molecular/cell biology or a relevant biomedical subject
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A BSc degree at 2:1 or above (or equivalent) in human molecular genetics, developmental
biology or related subject
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A demonstrable interest in medical genetics and inherited retinal dystrophies
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Extensive experience in preparation of samples for next generation sequencing
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Extensive experience of bioinformatics analysis of next generation sequencing data
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Experience in cell culture
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Practical experience of immunofluorescence microscopy
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Experience of western blotting, biochemical assays of protein-protein interactions and
proteomics techniques
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A proven track record in molecular genetics, including experience of RT-PCR, molecular
cloning techniques and generation of vectors
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A demonstrative ability to analyse and interpret research results
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A demonstrable ability to work unsupervised, with direction from the Principle Investigator
and as part of the wider research team
Effective communication and interpersonal skills
A developing publication record in high impact peer reviewed journals
A demonstrable understanding of health and safety issues within the laboratory setting
A demonstrable understanding of translational research
Strong IT skills, including the use of Microsoft Office and image processing applications
A willingness to work flexibly, when necessary, to fulfil the needs of the research project
Desirable
 Experience in supervising PhD students
 Experience of command line programming
 Experience in analysis of whole genome sequencing data
Further Information
Faculty Information
With more than 6,000 students, 1,600 staff and annual research income of £50m, the Faculty of
Medicine and Health at Leeds is bigger than some universities. Leeds has one of the largest
medical and bioscience research bases in the UK, and is an acknowledged world leader in cancer,
cardiovascular, psychiatric, genetic, musculo-skeletal and health services research. Treatments
developed in Leeds are transforming the lives of people around the world living with conditions
such as HIV, TB, diabetes and malaria.
The School of Medicine
The School of Medicine at the University of Leeds is a major international centre for research and
education. Our ambition is to improve health and reduce health inequalities, locally and globally,
through excellent scientific research and the translation of that research into healthcare practice,
and through the education of future scientific and clinical leaders who will advocate and practise an
evidence-based approach. Our major strategic aims are to:
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Deliver outstanding research including basic discovery science through to applied health
research that makes a significant difference to health.
Produce exceptional graduates, clinicians, educators, doctoral and post-doctoral fellows
whose learning has been informed and inspired by our research excellence and who will
form the next generation of academic and clinical leaders.
Develop and support knowledge transfer activities that flow from our academic activities.
Create and maintain an efficient and sustainable environment for research and teaching
within an organisational culture and management style that enacts and supports the
university’s core values of community, inclusiveness, integrity and professionalism.
The School of Medicine is organised into seven Institutes. All are committed to high quality
research-led teaching, through their training of postgraduate research students, delivery of
postgraduate taught courses, and its leadership in undergraduate teaching. The School works
closely with the local NHS, having a number of jointly funded clinical posts to ensure this
relationship is effective and strong for both research and student education.
Leeds Institute of Cardiovascular and Metabolic Medicine (LICAMM) Director: Professor
Mark Kearney
LICAMM integrates basic and clinical scientists with a common goal of understanding the
mechanisms underpinning common chronic diseases of human health and developing new
approaches to treating patients at an individual and population level. At the heart of LICAMM’s
philosophy is a vibrant multidisciplinary approach to science that provides a platform to deliver
internationally competitive translational research and teaching in disorders including cardiovascular
disease, diabetes, cancer and neurodegenerative diseases) our key aim is to improve the lives of
our patients and the experience of our students.
Leeds Institute of Health Sciences (LIHS) Director: Professor Tim Ensor
LIHS delivers problem-driven research that supports decisions about the content or delivery of
healthcare. Our interdisciplinary approach incorporates expertise in applied health research
designs, health implementation sciences, social sciences, health economics, informatics and
statistics, as well as skills in communicating with basic scientists, policy makers, healthcare
providers, public and patients. We conduct research at the individual, population and
organisational level.
Leeds Institute of Medical Education (LIME) Director: Professor Trudie Roberts
LIME provides the administrative support, co-ordination and leadership for the School of
Medicine’s undergraduate medical degree, including admissions, curriculum development,
assessment, student support and clinical placement liaison. It provides the technology-enhanced
learning and innovation support for the School of Medicine. LIME also has a very active
scholarship programme of research and innovation in medical education and uses its expertise to
influence medical education policy and practice nationally and internationally. To achieve this it
works with a range of stakeholders including the academic community, the profession, the public,
regulators and policy makers.
The Leeds Institute of Cancer & Pathology (LICAP) Director: Professor Tim Bishop
The Leeds Institute of Cancer Studies and Pathology addresses both laboratory-based and clinical
research into cancer with a major focus on translational science. LICAP is one of the largest
cancer Institutes’ in the country and has major financial support from the cancer charities. The
laboratories and clinical research are all based on the St James’s site with laboratory activities
being located in the Wellcome Trust Brenner Building and adjacent buildings while the clinical work
is based within Bexley Wing.
Leeds Institute of Biomedical & Clinical Sciences (LIBACS) Director: Professor Philip
Hopkins
LIBACS undertakes clinically-driven research from the level of the gene through cellular, tissue and
organ to clinical trials. Our vision is to develop a sustainable centre of excellence for the
advancement of patient care by translating research results into clinical practise and contributing to
medical education at undergraduate and postgraduate levels. Our research interests are
encapsulated in 6 clinical themes (Gastrointestinal inflammation & tumorigenesis, Genetic
disorders, Infection & immunity, Neuroscience, Perinatal medicine, Perioperative outcomes &
technologies) underpinned by 4 generic science technology strands (Animal models, Cell biology,
Gene regulations & Genomics). We are based predominantly at the St James’s University Hospital
site.
Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), Director: Professor
Paul Emery
LIRMM is dedicated to improving diagnosis, therapy, intervention and outcome across the
spectrum of rheumatic and musculoskeletal medicine. It boasts a dynamic portfolio of research and
education, delivering wide-ranging clinical, translational and basic research across five Sections:
Clinical Musculoskeletal Medicine, Experimental Musculoskeletal Medicine, Clinical Biomechanics
and Physical Medicine, Rehabilitation Medicine and Orthopaedics. A multi-disciplinary approach is
the core of our activities, with significant interdisciplinary links between Experimental and Clinical
research. LIRMM’s clinical activities are focussed at Chapel Allerton Hospital, which is also base
for our NIHR Musculoskeletal Biomedical Research Unit (LMBRU) and our basic sciences at St
James’s University Hospital.
Leeds Institute of Clinical Trials Research (LICTR) Director: Professor Julia Brown
LICTR delivers innovative design, delivery and knowledge transfer in clinical trials research. Our
multidisciplinary approach, in collaboration with basic scientists, clinicians, policy makers,
healthcare providers, public and patients and University colleagues, delivers internationally
competitive research and teaching that makes a significant contribution to the evidence base for
healthcare delivery. The Institutes research is conducted through the Clinical Trials Research Unit
where we have expertise in design and conduct of complex clinical trials incorporating novel
designs to evaluate CTIMPs, complex interventions, diagnostics, medical devices and surgery.
St James’s University Hospital Campus Infrastructure and Facilities (SCIF) Director:
Professor Pam Jones
This group covers activities that cover School of Medicine functions for Institutes at St James’s
University Hospital that span more than one institute including biomedical research facilities,
student education, IT, health and safety, estates, seminars, PGR studentships and business
support functions. These functions help support the 5 adjacent buildings on the site.
There are 3 Institutes with staff and students at St James’s: LICAP (Leeds Institute of Cancer
studies and Pathology), LIBACS (Leeds Institute of Biomedical and Clinical Sciences), LIRMM
(Leeds Institute of Rheumatic and Musculoskeletal Medicine). These three institutes are dedicated
to basic, translational, clinical and health research integrated with student education.
Additional Information
Terms and Conditions
Details of the terms and conditions of employment for all staff at the university, including
information on pensions and benefits, are available on the Human Resources web pages
accessible via the links on the right hand side, or at http://hr.leeds.ac.uk/policies
University Teaching and Research Award
The Senate of the University has agreed that all newly appointed staff with a contract of 0.5 FTE
and above who have a teaching/ research role and are deemed new to teaching or research in
Higher Education should be required to complete successfully all of the requirements of the
University of Leeds Teaching and Research or an appropriate alternative. Whether or not this
applies to you, will be decided as part of the appointment procedure at interview.
Further details of the ULTRA are available at http://www.sddu.leeds.ac.uk/sddu-ultra.html
Staff with contracts of less than 0.5 FTE may take the ULTRA provided that they have a broad
enough range of teaching, research and assessment to complete the requirements of the
Programme: this will be decided in conjunction with the School and the course providers.
Disclosure and Barring Service checks
A Disclosure and Barring Service (DBS) Check is not required for this position. However,
applicants who have unspent convictions must indicate this in the ‘other personal details’ section of
the application form and send details to the Recruitment Officer
Disabled Applicants
The post is located in the Wellcome Trust Brenner Building in the St James’s University site.
Disabled applicants wishing to review access to the building are invited to contact the department
direct. Additional information may be sought from the Recruitment Officer, email
disclosure@leeds.ac.uk or tel + 44 (0)113 343 1723.
Disabled applicants are not obliged to inform employers of their disability but will still be covered by
the Equality Act once their disability becomes known.
Further information for applicants with disabilities, impairments or health conditions is
available in the applicant guidance.