Posted By: The American Journal of Human Genetics, AJHG
Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month, we check in with Kimberley (X: @Kimberley1A) to discuss her recent paper “Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.”
AJHG: What motivated you to start working on this project?
KA: In the beginning I was really interested in characterizing Pilarowski-Björnsson Syndrome (PILBOS), as a recently identified genetic disorder. I was motivated by the open-ended potential for uncovering the biological mechanisms of the disorder and for the chance that our findings might be useful to individuals diagnosed with PILBOS, their families, and communities in the future.
AJHG: What about the paper/project most excites you?
KA: The concept that sex hormones like androgens may provide a protective effect in a neurodevelopmental disorder is really exciting to me. In the past, sex-specific mechanisms in neurodevelopment have not had enough focus, with many studies only focusing on one sex, for example, only male mice and not the females. I think this study has shown that a careful examination of both sexes is essential for improving our understanding of genetic disorders.
AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?
KA: Historically, overrepresentation of a particular sex in a genetic disorder was most often framed as increased susceptibility of the overrepresented sex. While this is true in many cases, we have shown that if you combine clinical cohort data with population datasets, you can get more nuanced insights. There are likely to be more genetic disorders like PILBOS where the overrepresented sex may actually be overrepresented because of a protective effect in that sex, rather than increased susceptibility. I think it will be especially interesting to see in the future if androgens may be protective in other neurodevelopmental disorder contexts.
AJHG: What advice do you have for trainees/young scientists?
KA: 1) Critical thinking is the most important skill to develop early in your scientific training. It’s easy to believe that your supervisor or other senior people are just naturally good at this, but it really is a skill you can train and improve with practice. 2) While you shouldn’t be afraid to throw yourself into hard work, also make sure to take a day or two every so often where you step out of the lab, or away from your analyses, and look at all your data as a whole to try to understand the big picture. Struggling blindly without stopping to fit the pieces together and see the bigger picture will ultimately cost you more time. 3) Finally, while it can be heartbreaking, always be willing to kill off a demonstrably wrong hypothesis quickly. This is one of the biggest time-savers.
AJHG: And for fun, tell us something about your life outside of the lab.
KA: I’m originally from Australia but have been living in Iceland for the past 12 years. I recently moved to Akureyri in North Iceland, where my husband and I are enjoying renovating an 87-year-old house, watching the late-night sun reflected on the mountains outside our windows, and trying to figure out how we can block out the honks from cruise ships early in the mornings.
Kimberley J. Anderson, PhD, is an Assistant Professor in the Faculty of Natural Resource Sciences, School of Health, Business and Natural Sciences at the University of Akureyri, Iceland.