An interview with Assoc Prof. Andrea Carmine Belin on ‘Genome-Wide Association Study Identifies Risk Loci for Cluster Headache’

This content is part of the Research in Practice in Mental Health series of interviews with scientists, focusing on how their research work can have impact on medical practice. Click here to follow 'Research in Practice in Mental Health' - for free - on Researcher for more great interviews.

Could you tell us a bit more about who you are, where you work, and what you're currently working on?

My name is Andrea Carmine Belin, and I'm an associate professor and principal investigator at the Department of Neuroscience at Karolinska Institutet in Stockholm, Sweden. My research team, we focus on the genetics of neurological disorders. We especially focus on the primary headache disorder called cluster headache. For our studies, we have established a biobank, which consists of biological tissue (mainly blood) and we also have clinical and demographic data, such as age of onset and treatment from both cluster headache patients and neurologically healthy controls, and we do this in collaboration with neurologist at the Karolinska University Hospital.

Could you discuss a bit more about your research paper and why this topic is so important?

We have performed something called a Genome Wide Association Study (GWAS) on cluster headache. We have done this in collaboration with the University College London. Cluster headache is a very debilitating disorder; its prevalence is reported to be around 1 in 1000 worldwide, but so far, the pathophysiology is very unclear. Since there is this lack of knowledge on the molecular mechanism giving rise to this disorder, the development of treatment is very difficult. During the years a genetic link has been suggested, for this disorder (more than 11% of the patients report that they have a relative with cluster headache). Therefore, we decided to do a GWAS to search for genetic links to cluster headache. This was done by screening more than 500,000 genetic markers all over the whole genome in cluster headache patients from the UK and Sweden, where the marker frequency was compared with healthy controls. In these studies, we were able to identify four genetic regions called loci linked to cluster headache, and we furthered did/performed downstream analysis and the results implicated immunological processes in the pathogenesis of cluster headache. The genetic links, loci, they were on chromosome 1, chromosome 2, (two of them were chromosome 2) and chromosome 6.

Could you now discuss the connection between your research and medical practice and how you hope your work will have an impact on therapies or treatments in the future?

Cluster headache is a primary headache disorder, and it's characterised by attacks of extremely intense headaches on one side of the head usually behind the eye region. There are effective treatments, but they have several side effects, and 10% to 20% of the patients have little benefit from this standard treatments. Most importantly, there is no cure for cluster headache. This disorder is sometimes referred to as suicide headache due to suicidal ideation when treatment is insufficient. Therefore, some more research is definitely needed in this area.

Where will your work lead you next and what's the dream outcome for you?

Finding a genetic link to cluster headache, will get you the knowledge to the underlying mechanism behind the disorder. This will give us tools to develop both better and more efficient treatments, as well as personalised medicines or even a cure. In addition to if we do genetic tests based on our results that can lead to faster and more accurate diagnosis (it is sometimes difficult to diagnose this disorder). Genetic tests can also be used for treatment optimization, if we can link these genetic markers to treatment response.

You can read and discover Andrea Carmine Belin’s research here.

Genome-Wide Association Study Identifies Risk Loci for Cluster Headache is published in Wiley

Photo Credits: Karolinska Institutet

Disclaimer: This is a transcript of a video conversation. You can listen to the recording on Researcher.