The Bloomsbury Colleges | PhD Studentships | Studentships 2012 | Integration of multiple genomic datasets for the dissection of the biological basis of autism spectrum disorder
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Discovering The Biological Basis Of Autism By Integrating Multiple Types Of Genomic Data

Lead Supervisor: Dr Emma Meaburn (Birkbeck)

Co-Supervisor: Dr Frank Dudbridge (LSHTM)

Autism Spectrum Disorder (ASD) is a highly heritable neurodevelopmental disorder, and the past decade has seen great progress in discovering genetic risk factors. However, much of the biological basis of ASD remains unexplained.

The study of epigenetic factors in complex traits such as ASD is an exciting and emerging field of research.  Recent evidence suggests that epigenetic mechanisms such as DNA methylation can interact with genetic effects.  To fully describe the genetic basis of ASD, it is essential that multiple strands of biological information are integrated into a unified analysis, and robust methods are developed to do so.

This project will develop an analytical framework for integrating genomewide genetic, epigenetic and transcriptomic data.  These approaches will be applied to exsisting datasets and datasets generated during the PhD, to identify ASD-associated genetic factors and their functional consequence.   The project will involve laboratory work to generate new types of data, together with statistical and bioinformatic work to analyse and interpret results.  A key feature of the studentship is its interdisciplinary nature, which will be provided by the joint supervision and training provided by Dr Meaburn, an expert in molecular and behavioral genetics, and Dr Dudbridge, an expert in statistical genetics.

The project will advance our understanding of the biological basis of ASD by identifying the interactions and functional consequences of epigenetic and genotypic influences in the development of ASD.


Essential requirements:

Candidates should have a good Honours Degree (2.1 or above) in a relevant subject in the fields of Life Science, Psychology, Physical or Mathematical Science. In addition, candidates are expected to possess strong analytical and computing skills, a proven ability to work independently, and effective written and oral communication capabilities. A desire to perform laboratory bench work is also necessary.

Desirable skills:

  • MSc in a relevant subject
  • Experience with scripting or programming (e.g., Perl, R)
  • Experience with genomic technologies (e.g., Microarrays or Next Generation Sequencing).
  • Applied statistical knowledge.
  • A good comprehension of human genetics.

The project is ideally suited to candidates with an interest in the genetic basis of heritable complex traits and disorders. Training in advanced statistics and molecular methods will form a core component of the project, and the candidate will be exposed to a range of cutting-edge genomic technologies. The candidate will also benefit from access to learning materials and short courses available at both institutions and affiliated laboratories.

Key References

Meaburn EL, Schalkwyk LC, Mill J. (2010). Allele-specific methylation in the human genome: implications for genetic studies of complex disease. Epigenetics. 1;5(7):578-82.

Schadt EE, Lamb J, Yang X, et al (2005) An integrative genomics approach to infer causal associations between gene expression and disease. Nature Genetics 37: 710-717

Schalkwyk LC, Meaburn EL, Smith R, et al (2010). Allelic skewing of DNA methylation is widespread across the genome. Am J Hum Genet. 12;86(2):196-212

Further details about the project may be obtained from:

Lead Supervisor: Dr Emma Meaburn,,

Co-Supervisor: Dr Frank Dudbridge,,

Further information about PhDs at Birkbeck is available from:

How to apply:

Application forms for the full-time PhD program can be found here:

Please specify on the form that you wish to be considered for the full-time Bloomsbury Colleges PhD program, under the supervision of Dr Meaburn and Dr Dudbridge. Applications should be accompanied by a cover letter and a CV.

General enquiries should be directed to James Vallerine at the Department of Psychological Sciences, Birkbeck.

Email:, Tel: 020 7631 6535

Closing date for applications: this studentship is now closed