What motivated you to come to Bristol and do this programme?
As part of my undergraduate degree at Cardiff University, I undertook a Professional Training Year (PTY) at the Royal Devon & Exeter Molecular Genetics Laboratory. I worked as a laboratory technician and gained lots of experience in molecular genetic techniques. I was working on various projects investigating the genetics causes of diabetes, including rare forms of neonatal diabetes, which in some cases can be caused by a mutation in a single gene. In neonatal diabetes, identification of a causal mutation can mean a switch from insulin injections to tablets and improved blood glucose control. This experience inspired me to further my knowledge of the genetic aetiology of human disease and I fortunately discovered the Bristol PhD project on-line.
What is the key research question of your PhD research project and what have you found out so far?
How can rare genetic variation be assayed cost effectively in large cohorts.
Over the last decade the cost of genetic screening has plummeted and there are now many techniques based around next-generation DNA sequencing for screening for genetic variation. To find associations between rare genetic variation and common complex traits requires large (>100,000) sample sizes.
Where do you think your research could lead and what are your future career plans now?
Since completing my PhD in 2012 I have been working as a Bioinformatician in the North East Thames Regional Genetics Laboratory at Great Ormond Street Children's Hospital (GOSH).
I provide bioinformatics support (analysis of next generation sequence data) for the GOSH regional genetics service who specialize in providing genetic testing for rare Mendelian disorders. This requires me to apply much of the computer programming knowledge I gained over the course of my PhD.
I have numerous research opportunities and I have been co-author on a number of research publications.
I have an honorary research associate position at the Institute of Child Health and am providing bioinformatic support for the RAPID project, which is evaluating non-invasive pre-natal testing and its application in the NHS.
I am involved in the NHS Bioinformatics Scientist Training Programme (STP) and am currently supervisor for a Bioinformatics STP (MSc) student. I am contributing to the development of best practice guidelines for bioinformatics in the NHS and have been part of a Health Education England (HEE) Government Advisory Board for the development of bioinformatics education with the health service.
I have been able to attend numerous external courses (e.g. City University, Linux System administration & UCL Software Carpentry) and present at conferences (e.g. European Society Genetic Medicine, British Society Genetic Medicine)
My future career plans are to continue to work in the NHS developing bioinformatics pipelines and best practice.