Hyperinsulinism and monogenic diabetes - presenting at the ASHG 2018 conference

Thomas W Laver, University of Exeter Medical School, Exeter, UK

 

Aims

I would use the grant to attend the American Society of Human Genetics (ASHG) conference 2018 in San Diego. The ASHG is one of the largest genetics conferences in the world with over 7,480 people attending the 2017 meeting from all over the world. The conference features talks from world leaders in genetics and inspirational speakers discussing how science can change the world – the 2017 meeting featured Bill Gates and Francis Collins.

My research aims to understand the mechanisms behind congenital hyperinsulinism and monogenic diabetes. Identifying novel genetic aetiologies for these diseases provides insights into the pathways of insulin secretion. I want to hear about the latest genetic methods so that I can apply them to my work. For example, I am currently investigating mosaic variants in our hyperinsulinism patients, to identify if these variants might cause their disease. How geneticists have studied mosaic variants in other diseases would inform my work.

Presenting my work at such a large, prestigious conference would raise my personal profile and bring attention to my research on hyperinsulinism and monogenic diabetes. Presenting work at a scientific conference is a great way to communicate research to a wider audience and create links for future collaborations.

 

Evaluation

I submitted an abstract to the ASHG 2018 conference entitled “20p11.2 deletions cause Hyperinsulinaemic Hypoglycaemia”. It was selected for a poster presentation and received a reviewer’s choice abstract award as one of the best 10% of abstracts submitted to the conference. My poster garnered substantial interest when I presented it, both from clinicians working on Hyperinsulinaemic Hypoglycaemia who wanted to know how it impacted on genetic testing for their patients but also from geneticists who were interested in our methods for screening for deletions and how they might be applied to their work.

During the conference there were several sessions on genetic mosaicism as well as a multitude of posters on the topic. Through listening to these talks and discussing the work presented with the authors of the posters it has helped shape my plans for how to investigate mosaic variants in my own data. Both in terms of potential methodologies I might utilise but also where there is a gap in the field for further innovation. I hope in the future this could build into publications or/and grant applications.

I have highlighted important information I’ve gained at the conference to other members of my group and members of the RD&E molecular genetics department whom we work alongside. Specifically how to study mosaic variants, the latest updates to the population genetics database gnomAD which is important for interpreting genetic variants, and resources for interrogating non-coding variants.

I believe that by enabling me to attend and present at this conference this grant has inspired my work in both general terms and for specific projects. I hope it has raised the profile of my work and my group and that my work has benefited others at the conference as theirs has benefited mine.

 

Grant awarded: £1,376