How a scientist is addressing inequity in human-genomics research

By | May 6, 2021

Joining a newly established laboratory as her first PhD student gave Sameera Asgari a great foreshadowing of life as an independent researcher and gained insight into setting up a research program from scratch.

The work of computational biologist Samira Asgari focuses on communities and individuals that are often overlooked in studies on human genetics, particularly Peru and Afro-Caribbean populations. Last year, he received a Nature Research Award for Inspiring and Innovating Science, which was awarded in partnership with the Estée Lauder Companies.

What is your background in science

I did my bachelor’s and master’s degrees at Tehran University, where I studied biotechnology. After finishing there, I received an offer to join two laboratories focused on genetics at the Swiss Federal Institute of Technology at Lawson (EPFL) for my PhD – one led by a new professor, Jacques Felle, and the other with a well Didier Trono, done by the established professor.

Trono said to me, “If you join my lab, it will be like cooking. If you join Fellay’s lab, it won’t be like writing a cookbook.” It helped me a lot: I Do not like to cook.

In 2012, I joined Fellay’s lab as his first PhD student. This was a bit risky as I started working in EPFL a few months before my arrival. Instead of following established protocols in a large lab, we had to develop everything on our own: I had to write a cookbook.

My PhD research in computational biology focused on understanding why some children become ill with common respiratory viruses, such as the respiratory solstice virus. My hypothesis was that these children have some genetic background which makes them particularly sensitive.

I knew that there is nothing about programming or data analysis to learn when I started, I spent my first year reading Internet forums such as Biostar and Stack Overflow, and I took a programming course at university. I also asked colleagues who worked in more-experimental laboratories about DNA-extraction protocols and other genetics techniques.

The cooking analogy sets the tone and direction for my entire career as a computational biologist. By looking for resources and learning skills on my own during my PhD program, I learned how to be independent, how to lead a research program and how to get help when I needed it.

I am still still writing cookbooks’ science, and plan to continue. For example, the analysis I do on genetics data can serve as ‘recipes’ for experimental biologists to expand upon.

What is the focus of your current research program

In 2017, I moved to Boston, Massachusetts, as a postdoctoral fellow at Harvard Medical School and Brigham and Women’s Hospital to study human genomics of tuberculosis.

I spent the first two years studying a genetic variant associated with low altitude in a population of Peruvian individuals of Native American ancestry. Recently, I investigated the role of genetic lineage on the progression of tuberculosis in the same population.

In my current research and work I plan to undertake a population of advancing centers, often overlooked in human-genomics research. About 80% of human-genomics studies are performed in European populations, but people of European ancestry make up less than 20% of the global population.

Most infectious-disease studies are performed in populations of European ancestry, but individuals with that background do not always have a disease burden. If you really want to help a group of people and contribute to health equity, then you should target groups of people with a large disease burden.

Why do you study human genetics

The drive to study human genetics stem from my curiosity and my desire to improve human health and make a positive impact.

There are tangible rewards and results, such as publishing a nature award or an important paper, but I don’t think those moments drive a lot of scientists, because they are rare and they pass. When I look back, what matters to me is that I have been given something that has made a lasting impact.

One of the best memories of my career so far came from helping a family whose son had a genetic mutation that led to his death from an infectious disease. The family had another son, and they worried that he would have the same medical issue.

When we identified the mutation that caused their first son to die, the family was relieved. This stopped something and they could have their second son tested, who fortunately did not have that mutation. The family wrote a very nice letter thanking us for helping them. When I look back at my research, I want to recall those moments.

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