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Using massively-paralleled sequencing to find the cause of inherited conditions that affect the front of the eye


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Key facts

Type of research degree
Application deadline
Ongoing deadline
Country eligibility
International (open to all nationalities, including the UK)
Additional supervisors
Dr Manir Ali, Professor Chris Inglehearn
School of Medicine
Research groups/institutes
Leeds Institute of Medical Research at St James's
<h2 class="heading hide-accessible">Summary</h2>

Eye diseases are a common cause of human disability and many of them are inherited. These include congenital as well as adult-onset conditions and diseases of ageing, and may involve abnormalities at the back of the eye or the anterior eye structures. We are currently working on a range of eye diseases that affect the front of the eye including primary glaucoma (eg. Ali et al 2009, Am J Hum Genet 84, 664-671), cataracts (eg. Khan et al 2011, Am J Hum Genet 89, 464-473), corneal dystrophies (eg. Siddiqui et al 2014, Cornea 33:247-51), keratoconus and strabismus. A major strength is our access to patients and patient samples through links with local clinicians. We also benefit from many national and international collaborations, and the group now manages unique cohorts of patients&amp;rsquo; DNA and cells. Ultimately it is hoped that genetic analyses of these patients will contribute to the search for cures for both rare and common inherited human eye diseases.<br /> <br /> The projects offered involve studying the molecular basis of these potentially blinding conditions in families with multiple affected members. To search for the pathogenic mutation(s), the student will prepare and analyse next-generation sequencing data using the established pipeline. To identify the genes and proteins involved they may also use a combination of autozygosity mapping, genotyping, bioinformatic analysis and Sanger DNA sequencing. Once the mutation has been identified, there will also be the opportunity to perform a range of molecular and cell biological techniques to characterise the mutant protein and determine the function of the normal protein during eye development. These experiments will involve reverse transcription PCR, in situ hybridisation, immunohistochemistry, siRNA (for gene knock-down) and molecular cloning with cell biology (for over-expression studies).

<h2 class="heading hide-accessible">Full description</h2>

<h3>Environment:</h3> <p>The student will be based in the University of Leeds in the section of Ophthalmology and Neuroscience (OPNE), School of Medicine, University Of Leeds. The appointed student will have the opportunity to learn a broad range of techniques described above. For further details of the Institute&rsquo;s research visit</p>

<h2 class="heading">How to apply</h2>

<p>Applications can be made at any time. To apply for this project applicants should complete a<a href=""> Faculty Application Form</a> and send this alongside a full academic CV, degree transcripts (or marks so far if still studying) and degree certificates to the Faculty Graduate School <a href=""></a>.</p> <p>We also require 2 academic references to support your application. Please ask your referees to send these <a href="">references</a> on your behalf, directly to <a href=""></a></p> <p>If you have already applied for other projects using the Faculty Application Form this academic session you do not need to complete this form again. Instead you should email <a href=""></a> to inform us you would like to be considered for this project.</p> <p>If English is not your first language, you must provide evidence that you meet the University&#39;s minimum English language requirements (below).</p> <p><em>We welcome applications from all suitably-qualified candidates, but UK black and minority ethnic (BME) researchers are currently under-represented in our Postgraduate Research community, and we would therefore particularly encourage applications from UK BME candidates. All scholarships will be awarded on the basis of merit.</em></p>

<h2 class="heading heading--sm">Entry requirements</h2>

A degree in biological sciences, dentistry, medicine, midwifery, nursing, psychology or a good honours degree in a subject relevant to the research topic. A Masters degree in a relevant subject may also be required in some areas of the Faculty. For entry requirements for all other research degrees we offer, please contact us.

<h2 class="heading heading--sm">English language requirements</h2>

Applicants whose first language is not English must provide evidence that their English language is sufficient to meet the specific demands of their study. The Faculty of Medicine and Health minimum requirements in IELTS and TOEFL tests for PhD, MSc, MPhil, MD are: &acirc;&euro;&cent; British Council IELTS - score of 6.5 overall, with no element less than 6.0 &acirc;&euro;&cent; TOEFL iBT - overall score of 92 with the listening and reading element no less than 21, writing element no less than 22 and the speaking element no less than 23.

<h2 class="heading">Contact details</h2>

<p>For further information please contact the Graduate School Office<br /> e: <a href=""></a>, t: +44 (0)113 343 8221.</p>