Every month, one member of the TGMI team will tell us why they are so committed to the vision of the TGMI, and share a bit more about their work and interests.This week we hear from Elspeth Bruford, Group Coordinator and PI at the HUGO Gene Nomenclature Committee (HGNC)
What has been the main focus of your work to date?
I’ve been working in the HUGO Gene Nomenclature Committee (HGNC) since 1998. I originally applied for the post because I’d become interested in how the symbols for genes were assigned during my PhD, when I was mapping forms of autosomal recessive retinitis pigmentosa. It turned out to be the perfect role for me as I got to read lots of papers (including some pre-publication, which meant we were among the first to learn some fascinating discoveries) and scour the available bioinformatic resources for information, and then try to encapsulate some of these findings in a gene symbol and name. It’s a great way to get an overview of the whole human genome whilst also aiming to improve communication and facilitate discovery. HGNC also had a key role in the Human Genome Project, naming the thousands of novel genes being sequenced and annotated by the Consortium, which was an incredibly exciting time to be working in human genetics. I feel really privileged to have been a part of that project.
What are you most excited about in genetic medicine?
Genetic medicine is the ultimate application of all of the knowledge we are gleaning about genes and their products. So much of human life is predetermined and controlled by our genes so the potential for applying this knowledge in a clinical setting is immense, and literally life-changing. And there is still so much more to discover…
What are you most concerned about in genetic medicine?
I think public perception is incredibly important. Genetic medicine is something that could potentially benefit everyone, but if it is badly communicated or there is a general feeling of negativity or distrust that could be incredibly damaging to progress. One particular bugbear I have is when journalists say that someone “has the disease gene” – people need to know that all humans share essentially the same set of genes, but it’s usually due to specific changes within these genes that problems arise, not because of the presence or absence of a certain gene.
Why did you get involved in TGMI?
The TGMI aims are really aligned to mine and to HGNC’s, particularly in relation to communication. As communication is so key to genetic medicine working effectively, the language that is used is crucial. We would like this to be HGNC approved gene symbols and IDs for genes. This already works well between genomic databases, but we also need it to work effectively in a clinical setting.
What is the most important thing that you would like the TGMI to achieve?
An effective network for collaboration: there is a vast amount of data already being generated but it all needs to be shared and disseminated in an appropriate and efficient way.
If you had a magic wand (i.e. unlimited people/resources) what would you do to make genetic medicine work?
I’d enforce the usage of standardised terminology in all reports, publications and databases. Not purely of gene symbols and IDs (though of course that would be top of my list!), but also for reporting transcripts, variants, phenotypes, everything.
Do you have a favourite gene? If so – what and why?
I think the easiest answer is…no! I’ve worked on and named so many that it is really difficult to single out just one. And I get asked this question quite regularly, so I really should think up an answer one of these days.
What is a surprising fact that few people know about you?
I left school at 16 and spent six months working in a Cancer Epidemiology Unit; as well as giving me a taste of “real” work, it meant I was able to save up to go inter-railing around Europe with a friend in the summer before starting University. Both were educational experiences in different ways!
If you had a chance to experience a completely different career for a week, what job would you try?
I think it would be fascinating to see what goes on in GCHQ (the Government Communications Headquarters). My grandfather worked in Room 40 in the Admiralty during World War I, and later at Bletchley Park during World War II, breaking German naval codes. I like to think he would be interested in the form of “codebreaking” we are working on.