The clinical and scientific researchers and practitioners in the TGMI are at the forefront of human genetics. Every month, one of them will telling us why they are so committed to the vision of the TGMI, and sharing a bit more about their work and interests. This week we hear from Ewan Birney, Director of EMBL-EBI.
What has been the main focus of your work to date?
I have had a number of strands of my science career. I started by writing programs that analysed genomes and was heavily involved in the original human and mouse genome analysis. After that, I continued to be involved in the development of many sequence analysis methods, from alignment to assembly with students and postdocs over the years. I co-founded a number of bioinformatics databases (Ensembl and Reactome) and remain having a strategic role in leading bioinformatics data infrastructure as Director of EMBL-EBI.
Besides this, I also lead the analysis of chromatin and RNA datasets in the human genome in the ENCODE project, and more recently in my own research group have a new interest in quantitative genetics. I am very lucky to have such a diverse portfolio in science.
Why did you get involved in TGMI?
I get very frustrated when I can see that the skills in the more basic research arena are not being used as much as they could be in clinical research, and correspondingly that clinical research and clinical practice results are not being leveraged in basic research. So I am excited about strengthening the bridge between these two key worlds.
What are you most concerned about in genetic medicine?
From talking with the clinician scientists, in TGMI and more broadly, I have become far more aware of the potential of well meaning harm to patients. It’s something that we should really guard against.
What is the most important thing that you would like the TGMI to achieve?
Consistent flow of data from basic, reference datasets into clinical interpretation, and from clinical knowledge to basic research.
Do you have a favourite gene? If so – what and why?
SRSF1 (though back in the day it was called SF2). it was the first gene I analysed in depth and lead to my first “full” paper in 1993.
What is a surprising fact that few people know about you?
I worked for the Mayor of Baltimore before I did my PhD for a summer.
If you had a chance to experience a completely different career for a week, what job would you try?