Alicia Martin seeks diversity to better understand human genetics

Alicia Martin has a very personal relationship with genetics: her brother was born with cystic fibrosis, so she spent a lot of her early childhood with her family around hospitals, witnessing the medical effects of the genetic disorder. Later, when she enrolled as an undergraduate at University of Washington, she recognized pretty quickly that genetics research was a logical path for her to pursue. As the first member of her family to attend a university, however, she had little guidance on how to navigate that path.

She was fortunate, she says, to have met cell biologist Celeste Berg, who took Martin under her wing and dedicated time and effort to teaching her the tools of molecular genetics. From there, she went on to study human evolutionary genetics in the lab of Stanford’s Carlos Bustamante, who, she says, served as an exemplary advocate for diversity in science.

Now a postdoctoral researcher in Mark Daly’s lab at the Stanley Center for Psychiatric Research at the Broad Institute and the Analytic & Translational Genetics Unit at Massachusetts General Hospital, Martin is continuing to grow as a researcher in the fields of population and statistical genetics. Her work focuses on exploring genetic variation in order to better understand human evolution and migration, and as a lens into the diversity of complex human traits.  

In a #WhyIScience Q&A, Martin spoke to us about the importance of diversity in genomic research and the lessons she’s learned from mentors and other leaders in science.

Q: Can you tell us a little bit about your research?
A: I study human population genetics, investigating how people migrated, adapted, and mixed over the course of history to shape the genetic and phenotypic variation that we see today. This evolutionary lens can reveal a lot about genetic risk for diseases across populations, including how generalizable our current models of traits and diseases are from one population to another. This is especially important in genetics given Eurocentric study biases.

Q: What do you think is your biggest scientific accomplishment thus far?

Field work in the northern Cape near Andriesvale, South Africa. Caitlen Uren, Brenna Henn, Marlo Möller, and Alicia Martin (far right). (Photo credit: Felix Meinhardt)

A: While I am still developing approaches to mitigate the problem, I’ve exposed the biases of applying knowledge derived from Eurocentric genetic studies to broader personalized medicine endeavors. Generalizing findings from these Eurocentric studies can end up short-changing underrepresented populations, and they can miss key clues about human health and disease. One of my goals is to build methods and research capacity that will enable genetic studies across more diverse populations. Greater inclusivity in genetic studies will aid genetic interpretation in everyone by refining lists of candidate risk variants for disease, making risk prediction models more generalizable, and identifying more genetic mutations that are associated with disease.

Q: As a young scientist entering the field, who helped you along the way?
A: I have been incredibly fortunate to have amazing mentors all along the way, and there are many without whom I wouldn’t be doing what I’m doing today. In addition to Celeste and Carlos, who helped shape my interests, Eimear Kenny and Brenna Henn have graciously acted as career mentors, taking a very hands-on approach to teaching me methods in evolutionary genetics. And Mark Daly, my postdoc advisor, is an incredible mentor who leads by example—the humility with which he deftly contributes one major research finding after another inspires all of his trainees to do great research as kind leaders.

Q: What else do you look for in leaders in science?
A: I have been super lucky to be surrounded by many renowned leaders in science who are also wonderful people. I’ve seen that they are successful leaders because of the unique styles they bring to the table. One universal quality is their ability to communicate science clearly to an array of interested parties, including lay audiences, journalists, philanthropists, and fellow scientists. Another is the support they give to mentees in various forms, including time and resources. Critical to all of this is providing a supportive environment: ensuring that mentees know how to ask questions and have freedom to creatively pursue questions of interest.

Q: Is there someone, inside or outside of science, who inspires you?
A: I think Bill and Melinda Gates are inspiring. Given their immense wealth, it would be easy for them to passively donate to philanthropic efforts. Instead, they show a personal interest and curiosity in the science they fund, take an active role, and recruit people (such as Sue Desmond-Hellmann) who have a passion for the success of these programs. I’ve been consistently impressed by the depth of their investments and involvement in outreach, and their capacity-building efforts in human health.

Q: You've mentioned a number of female mentors. Do you think women bring something to science leadership that might otherwise be missing?
A: Every leader is different, but the female role models I respect most share a common bond in that women in science have to prove themselves against the backdrop of cultural norms. I think that commonality builds an appreciation for a community they can rely on. Because of their willingness and eagerness to listen, the first people I’m mostly likely to call when faced with a career crisis or amazing news are my friends, family, and female role models.