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 Jonathan Marquez to discuss his paper “Polyamine Metabolism is Dysregulated in COXFA4 Related Mitochondrial Disease.”
HGGA: What motivated you to start working on this project?
JM: From the perspective of developmental biology and physiology, I found it fascinating that a gene important for mitochondrial complex IV function could be deleted in its entirety. Yet, more important for me was the opportunity to help a family arrive at an answer for some of what their children have experienced in terms of their health.
HGGA: What about this paper/project most excites you?
JM: I was grateful to be able to make use of my research experience in developmental biology to tackle a clinical question that I saw in the clinic. As a trainee, throughout medical school, graduate school, and residency I have always hoped to be able to do this kind of work for individuals that I helped care for; this hope came to fruition through this work.
HGGA: What do you hope will be the impact of this work on the human genetics community?
JM: I hope this work highlights the potential for rapid animal modeling to help as a platform to aid in both diagnosis and treatment of individual patients on a time scale in which those we care for and who are generous participants in our research endeavors can benefit directly from our work.
HGGA: What are some of the biggest challenges you’ve faced as a young scientist?
JM: The growing public distrust in science and medicine along with proliferation of disinformation and misinformation regarding science and in particular genetics have been at once a source of discouragement but also a call to action in how I approach research and science communication.
HGGA: And for fun, what is one of the most fascinating things in genetics you’ve learned about in the past year or so?
JM: Over the past year I have learned more and more about how much genetic variation exists not only between us, but also within us. I think one of the coolest things I see happening in genetics right now is the appreciation for the role of somatic mosaicism in the pathogenesis of all manner of diseases with genetic etiologies. I think this work by groups such as the Somatic Mosaicism Across Human Tissues (SMaHT) consortium and others are putting recent advances in sequencing technology and analysis to excellent use.
Jonathan Marquez, MD, PhD is a Resident in the Pediatrics–Medical & Genomics program at Seattle Children’s/University of Washington.