School of Medicine, Dentistry
and Biomedical
Sciences
Diabetes UK PhD Funded Studentship 2011
Public Health
Exploring genetic risk profiles for diabetic nephropathy by
extending meta-analyses of genome-wide association studies
Supervisors:
(email a.j.mcknight@qub.ac.uk)
(email a.p.maxwell@qub.ac.uk)
Funding: Diabetes UK Year 1 - £14,000, Year 2 £14,500, Year 3
£15,000
Candidates should have or expect to obtain a 2:1 or higher Honours degree or
equivalent in Genetics, Bioinformatics Biomedical Sciences or other relevant Biology
degree.
Further information is available on the School website at
http://www.qub.ac.uk/schools/mdbs/ (Click on Postgraduate Studentships ).
Potential candidates are encouraged to contact the supervisor prior to submitting an
application.
Aim: To extend existing knowledge and understanding of inherited influences on the
development of diabetic kidney disease, including identifying biological
pathways that may provide novel targets for therapeutic intervention.
Abstract:
Diabetic kidney disease (diabetic nephropathy) directly affects up to 30% of individuals with
type 1 diabetes. Diabetes accounts for 10% of the National Health Service (UK) budget with
diabetic kidney disease significantly increasing the rates of hospitalisation and risk of
cardiovascular events for affected individuals.
Diabetic kidney disease is influenced by inherited differences between individuals and our
research team has recently identified several novel genetic risk factors that increase a
person’s risk of developing diabetic nephropathy. Recently, we identified further potential
risk markers for kidney disease (P=4.8 x 10-9) by examining approximately 2.4 million unique
genetic changes (SNPs) in 6,462 individuals with type 1 diabetes. The proposed project
builds on this ongoing research, which is primarily in collaboration with researchers across
the UK, Europe (University College Dublin; University of Helsinki; Karolinska Institute) and
the USA (The Broad Institute of MIT and Harvard).
Through extensive worldwide collaborations we have formed the largest collection of DNA
for individuals with type 1 diabetes and known kidney status. Analysing novel data in this
important collection will provide a wealth of information in the search for a genetic profile that
will help identify individuals most at risk of developing this devastating complication of
diabetes.
Plan of Investigation:
1.
To conduct replication and fine mapping studies employing recruited individuals
with nephropathy in type 1 diabetes.
2.
To compare our data with that from large-scale datasets for other forms of kidney
disease.
3.
To complement analysis of nuclear SNPs by next generation sequencing of the
mitochondrial genome and analysis of copy number variation.
Our research group combines skills and experience in bioinformatics, population genetics
and clinical medicine to enable maximal information to be derived from large-scale genetic
research projects. The laboratory is fully equipped to conduct advanced genetic analyses
with the student becoming familiar with genome-wide and gene-specific techniques to
assess genetic variation using state-of-the-art tools such as next generation sequencing.
The successful student will join a dynamic, multidisciplinary team, gaining comprehensive
theoretical and practical training in the genetics of multifactorial diseases. Students are
encouraged to attend external training courses providing in-depth knowledge for key genetic
tasks and generic skills. Students are also encouraged to present their work at local,
national and international meetings with appropriate results submitted for publication in peerreviewed journals to enable them to subsequently obtain a competitive post-doctoral
research position.
This project may develop a functional genetic risk profile that will help identify the
subset of individuals most at risk of developing diabetic kidney disease and thus
identify persons who would benefit from targeted therapies to prevent or slow the
progression of this serious and costly disease.
CLOSING DATE: Monday 11 April 2011, 5pm