Posted By: HGG Advances
Each month, the editors of Human Genetics and Genomics Advances interview an early-career researcher who has published work in the Journal. This month we check in with Emil Jørsboe (@jorsboe) to discuss his paper “An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention”.
HGGA: What motivated you to start working on this project?
EJ: I wanted to obtain further insights into the genetics of the Greenlandic population, as it is a genetically unique and understudied population. Specifically, we sought to look further into a range of cardiometabolic phenotypes. The end goal was to improve our understanding of the genetic variants that impact metabolism in Greenlanders, and potentially find actionable targets that can help improve prevention or treatment.
HGGA: What about this paper/project most excites you?
EJ: That we can use the knowledge from this paper to hopefully implement a screening and prevention program in Greenland and other Arctic populations that will help prevent, or at least postpone, cardiovascular disease. This will help people in these understudied populations live longer and better lives. I think this paper is a nice example of a very concrete and actionable result which can be put to good use right away.
HGGA: What do hope is the impact of this work for the human genetics community?
EJ: I hope this can provide a concrete example for utilizing GWAS results to do so-called personalized medicine. Furthermore, I hope this work shows that doing genetic studies in understudied populations is definitely important. Results from such studies can and should help the population being studied.
HGGA: What are some of the biggest challenges you’ve faced as a young scientist?
EJ: COVID-19 was definitely a big challenge for me as it was for so many other people. COVID-19 did not directly impact the work on this study, as the data used for this specific project had already been generated. But mentally it was a tough period, and I personally struggled with maintaining motivation.
Another thing I have found challenging is getting my papers published. I think sometimes we/I should be better at celebrating the achievement that is getting a paper published in a peer reviewed journal and appreciate the amount of work that has gone into it.
HGGA: And for fun, what is one of the most fascinating things in genetics you’ve learned about in the past year or so?
EJ: I recently saw a preprint on medRxiv by Nina Mars et al., where they have compared family history against polygenic risk scores (PRSs) for a range of diseases. And surprisingly to me, they find that family history and PRS are independent and not interchangeable measures, but instead provide complementary information of inherited disease susceptibility.
According to the authors, this finding provides an opportunity for a more comprehensive way of assessing inherited risk. So this study, like our study, hopefully can help to improve preventive care!