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Dr. Claudia Gonzaga-Jauregui, Geneticist and Genomicist


Claudia Gonzaga-Jauregui, PhD is a leader in the field of human genetics and genomics and a principal researcher at the International Laboratory of Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano (LIIGH), Universidad Nacional Autónoma de México (UNAM).

Dr. Gonzaga-Jauregui’s work focuses on applying genomic technologies to novel gene discovery, diagnostics, and therapeutic development in the investigation of rare disorders and Mendelian phenotypes in families.

Prior to joining the LIIGH in 2021, she spent seven years as a senior manager at Regeneron, where she studied rare and complex diseases in industry. Dr. Gonzaga-Jauregui is co-editor of The Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches (2021) with James R. Lupski. She holds a PhD from Baylor College of Medicine and completed her post-doctoral work at Duke University.

Please note that this interview has been lightly edited for length and clarity.

Interview Questions

[] You describe yourself as a geneticist and a genomicist. Can you explain the difference between these two scientific roles and how they intersect?

[Dr. Claudia Gonzaga-Jauregui] Genetics is specifically the discipline of biology or biological sciences that studies the inheritance of traits. I’m a geneticist in that I study how different traits are passed from parents to offspring, or how certain genes are responsible for certain traits or diseases, which is a lot of what I study. Genetics started with Mendel’s laws and all of Mendel’s principles, and then everything developed in the last 60 years.

The term genomics is much later, around 1985, when people started sequencing. Once the technology, Sanger sequencing, came to be, people [could] determine the sequence of bases of certain pieces of DNA, and eventually, the whole DNA of an organism. The complete information of an organism that is in each cell that determines how it develops and how it functions—that’s the genome. And so genomics comes about with the ability to sequence and determine all of that information of the DNA…

While I study the inheritance of traits, I study the bigger view of the human genome: how different genes are interacting with each other; how genes are regulated; and how that gives rise to certain traits or diseases.

We also study genome architecture, the rearrangement of different regions (and some of those rearrangements can cause diseases), and the evolution of the genome. That study of the genome as a whole—all the information of an organism—that’s the genomics element.

[] Would you say that the genomics branch of the field is where the application comes in?

[Dr. Claudia Gonzaga-Jauregui] Not necessarily. Genetics has had an application for a long time, finding the genes that cause certain diseases, give a person a susceptibility to develop some disease, or that are responsible for certain traits, like height.

Genetics has a whole lot of practical applications in medicine, but it’s definitely true that in the last two decades or so, the intersection of genomics and genetics has really brought genetics more into the mainstream and into more health applications. You can now do an analysis of many people, the whole genome, or the exome, which are the coding parts of the genome. You can start looking for patterns and associations between variations in the genome and certain diseases or treatments.

[] And is the marriage of genetics and genomics where precision medicine has grown from?

[Dr. Claudia Gonzaga-Jauregui] Precision medicine is applying this knowledge of genetics and genomics to identifying variation in a given person’s genome that gives them susceptibility to develop diabetes or cardiovascular disease. Ideally, [we can] detect those changes before they have that disease, so we can recommend some interventions or treatments. With pharmacogenomics, [we can figure out] what treatments might be better, what might work best for the person.

All of these parts of informing health decisions and managing diseases for a given person based on their genetic and genomic information—that’s the precision medicine part.

[] What sparked your interest in human pathogenic genomic variation, and specifically, the human genetics of rare diseases?

[Dr. Claudia Gonzaga-Jauregui] I trained at Baylor College of Medicine, which has a very rich and fruitful history in human genetics. I definitely was interested in understanding these relationships between changes in certain genes and how these changes produce diseases and what mechanisms.

As we started sequencing genomes, we realized that we didn’t know a lot about many things. We have identified a lot of genes, but when we started sequencing about 2008-2009, we knew the cause of about 3,000 or so diseases that were cataloged; we had 5,000 more to find. In the last 15 years or so, we’ve been able to identify the cause of 3,000 more.

Right now, we know the causes of more than 6,000 diseases. We still have about 1,500 or so to go. But the truth is that we don’t understand what a lot of the genes do. If we really want to reach this objective of precision medicine and make sense of more complex diseases that have interactions with the environment, Mendelian genetics and rare diseases are where we need to focus. [We need to] understand the function, these genotype-phenotype associations, and really build that knowledge that that can lead us to understand more complex disorders.

[] Tell me about your experience in academic and industry settings.

[Dr. Claudia Gonzaga-Jauregui] I did a post-doc at Duke after my PhD at Baylor, and then I went to industry. I was a senior manager with a company in New York. It’s a pharmaceutical company called Regeneron. You might have heard [of it] with all the Covid stuff.

They specialize in monoclonal antibodies, and in 2014, they started a genomics center because in the last eight or so years, it has become really clear that drug targets that have evidence in human genetics do much better later on in clinical trials.

A lot of pharmaceutical companies have started getting interested in genetics and studying these genomic variations and phenotypes because the success rate of targets that have information from human genetics is much higher, both from a safety and efficacy point of view. These companies started these genetics centers, and so after my post-doc, I joined as a staff scientist there to do an analysis of rare diseases and complex diseases in industry.

[] You were at Regeneron, and then in 2021, you returned to academia to an assistant professorship and a principal investigator role at UNAM, at the International Laboratory for Human Genome Research. What prompted your return and taking this position?

[Dr. Claudia Gonzaga-Jauregui] When I went to do my PhD in the United States, I always had an interest in eventually going back to Mexico to apply what I learned. Then, life happens and I was at Regeneron, but I still had that interest in doing something in Mexico.

I do the analysis of genomes and make sense of many thousands of people every day, but there are countries where this is not happening. For example, in Mexico, we are about ten years behind what the US or the UK are doing right now. [Returning] is the only way to really help and promote the implementation of genomics in low- and middle-income countries. A lot of my focus has been on the Latin American region, which overall has the same shared problems of implementation of genomics. In a way, I felt a little bit of guilt that I was here in the US, doing all of this analysis, and I knew that there were patients in Mexico that needed these. They could use these genomic approaches, and I had no way of helping and reaching out.

The other part was also that after seven years in Regeneron, I reached a point where I couldn’t advance my career there. There’s still quite a bit of sexism and issues in industry and academia, but I wanted to advance a bit more and build the team at Regeneron. There was a group of 20-something people working on large population analysis, but it was just me working on families and rare diseases. There definitely was an imbalance in how they prioritized the different areas.

I tried for several years to build a team to expand this focus partly because I was drowning in work but also to be able to have more reach and more projects to work on. I definitely reached that glass ceiling where I couldn’t go further, so that was that.

The other reason was that after seven years in industry in the US, it was really hard to try to go back [to academia] because I didn’t have funding from NIH. I had been seven years in industry, so they were like, “No, you cannot have an entry-level position as an assistant professor; you have to go back and do a post-doc,” and I’m like, “I’ve had seven years as a group lead in industry, and I have all these publications.” It’s not like I’ve been disconnected—I’ve been doing research. But unfortunately, the US academic system looks a lot into how much money you can bring into the university rather than the production. So those were the main factors…

And when I started looking into coming back to academia, I talked to people in Mexico. They were like, “Come back here, please. We really need people like you.” And I said, “Well, in full disclosure, I don’t have a grant from NIH,” and they’re like, “Don’t worry, we trust you. We know that you’re very motivated and very good. Just come back.”

That was pretty much how the decision was made.

[] Your story leads me to my next question. Could you elaborate a little bit more about the challenges you have faced as a woman pursuing the work that you are doing and what has helped you navigate those challenges?

[Dr. Claudia Gonzaga-Jauregui] In general, for women in sciences, we know there are a lot of challenges. It’s called the “leaky pipeline,” where a lot of women start in graduate school, and then when you go to advance in your career, very few people make it to full professors. But I heard someone say, “It’s not a leaky pipeline. It’s like people are stabbing at it.” Right? And women are going out. Part of the issue is with work-life balance and family.

One thing that’s important is that many people right now are talking about the transition to industry as a better option versus academia. Having been in both, there are advantages to one and advantages to the other one. Industry has its issues, where there is a lot of sexism. In my experience, it is very much the white males that are in leadership positions at major companies. Wanting to move on in your career but fighting the system, right? It’s really discouraging.

The other part that was difficult for me in industry was that many times, the people in leadership don’t know the topics in genomics and genetics. It was kind of hard to convince people [that] this is the right approach when they already have a perspective of what it should be without really the knowledge of what it is.

The way I navigated was by forming collaborations with other members of the team at Regeneron that would help me out. We would synergize and that, in some ways, helped to ameliorate this lack of support for certain projects. But again, ultimately, it was like, “Okay, I need to move on, and have some independence and freedom to proceed in my career.”

One of the motivations to take the job in Mexico was that I started my family. I was pregnant in 2019. I really wanted to have that balance of work and family. Early career professors in the US have to be writing grants all the time. I didn’t want that to take away from my baby that I had really wanted and planned for, so I really wanted to find a balance.

Part of what has really helped and has been really important in my decisions has been my partner, who has been very supportive. You see that many times when male professors get awards and such, that’s very much because they have a supportive spouse. I think that’s also true for women: if you have a supportive partner, it’s much easier to try to combine those things.

I’m very grateful because I really have a supportive partner. He’s American, and so he took the leap of faith to come with me to Mexico. We are both assistant professors, and we continue our careers but also support each other. That has been really, really good for continuing our professional development and having a family, as well.

More broadly, mentorship is definitely really important. For me, Jim Lupski [who] was my PhD advisor has been instrumental and very supportive throughout my career. And also, Richard Gibbs, also from Baylor, from the Genome Sequencing Center. So now, when I’m here at UNAM, I have collaborations with Baylor, and we keep working together. That’s also very important: to keep working and move things forward.

[] I read in a 2020 UNESCO report that women make up only 30 percent of researchers worldwide. And it’s only slightly higher in North America and Western Europe at close to 33 percent. What do you think could be done to reverse this trend and increase the number of women in genetics and genomics research and leadership in those fields?

[Dr. Claudia Gonzaga-Jauregui] Having a supportive structure where you have maternity leave and support from the institution or company is important so you can develop that part of your life without having to think that you’re sacrificing your professional life for your personal life. This ongoing guilt while you’re taking care of your child—that you’re not writing this other grant. That’s a very troubling thing for women, and having those mechanisms is important.

There’s been some progress in that. For example, I know some funders have been a bit better at this, where you can actually say, “Well, I took some time off for childcare obligations or for maternity leave,” and you don’t get penalized because the clock keeps ticking for tenure…

The other thing that’s very important is having a structure that really promotes respect and fairness for everyone. Specifically, I’m talking about sexual harassment and toxic work environments. So at the LIIGH, we are a lot of young PIs, and unfortunately, one of my colleagues was a victim of sexual harassment by another investigator. So we’ve been very clear and strong about making the LIIGH a safe environment for everyone, where there’s an open door policy if there’s any concern about anyone’s behavior.

I’ve also experienced a toxic work environment during my post-doc, so not all harassment is sexual, and that’s also important. Unfortunately, women are more likely to be the target of harassment. For example, my post-doc advisor would say that he would hire more women because they wouldn’t talk back to him. He would talk to them any way he wanted to, tell them to do this, or yell at them, and women are less likely to respond.

And unfortunately, because of how we’re educated, and culturally or socially, that’s true. That also makes us targets for all sorts of harassment. Make sure that the work environment is safe and open, [and that] if you have any issues, you can go to someone and say that, and there’s no fear of retaliation.

I also have seen that in industry. For example, many people won’t talk if there’s an issue because there’s retaliation from the leadership. Companies tend to protect the leadership—not the employees—and HR is not really there to remediate the relationships but to protect the leadership. Ultimately, if you know that you are in an environment where it’s not safe and your voice really won’t matter, it’s better for a woman to leave than to fight it. That also is a big problem with these pipelines.

[] Along those lines, what advice would you give to women interested in leadership in genomics?

[Dr. Claudia Gonzaga-Jauregui] Being supportive of other women is important. I know sometimes women take this attitude of like, “Well, it was hard for me, so why should it be easier for others?” Or, “I had to do all of this and took all of these insults and harassment during my career, and that made me strong, so you should do that as well.”

I don’t think that’s a healthy position to pass on. A way to make workplaces in academics or industry more safe for women—and also more welcoming and amenable to career advancement—is for also women to have a good attitude toward hiring other women. There are many women that are high-profile CEOs or in leadership and [say], “Well, I don’t have children and stay dedicated my professional life, so women with children shouldn’t have any permissions or things like that.”

Try to get in other people’s shoes and be understanding: [just] because you had it hard, [doesn’t mean it] should be hard for everyone else. If you had it hard, hopefully you learned from that and try to help the next generation. It’s already hard, right? We live in a society where women have a harder time moving up in their professional life, so why make it harder? I think changing that attitude is important.

Also, teach the next generation, so they have some of the tips and tricks to make it. I tell my students, “We’ve had like 20 generations of genomic sciences graduates—you don’t need to learn everything from scratch…” In that same sense, women can mentor other women to be successful in an understanding way.

[] You’ve already accomplished a lot in your career. I saw that you have edited a book. You’re also the founder of La Red Mexicana de Enfermedades Raras (ReMexER). What career accomplishments are you most proud of? What goals do you have for current and future work?

[Dr. Claudia Gonzaga-Jauregui] I’m really proud of the book. It’s a text that I hope will be very useful for people like early-career scientists and people interested in genomics. We really tried to make it approachable and walk people through the concepts and how they’re applied now.

Also, [I’m proud of] the work we’ve done finding novel genes associated with diseases that can enable the diagnosis of new patients. I think that’s one of the most rewarding parts of the career I’ve chosen. Even if it’s one patient, it makes a difference for that family. Some people think, “Well, if it’s not a drug target that will be prescribed to thousands of people with diabetes, then it doesn’t matter.” But it matters for one family or two or ten. Finding new genes that explain the disease of a patient, for me, is important. And again, that’s part of the result of coming back to Mexico precisely to work on that.

For this new chapter and what I want to accomplish now, [I want to] make it a reality that genomics can be fair and equitable around the world. We have the technology. We can do this type of analysis, and the country where you’re born shouldn’t be a limit to whether you get an early diagnosis or not. I definitely want genomic diagnostics to be common in Mexico and in Latin America. I think as a region, we need to be more cohesive and move forward together…I think that we should strive for that, that not just people that are born in the US or in the UK or in high-income countries can have a better quality of life if they have an early diagnosis. We can really enable that for everyone that has a suspected genetic disease.

And from there, taking the next leap toward making precision medicine a reality for people everywhere. It’s just a matter of rallying the forces toward that objective. Because what we learn from patients in Mexico can be applied to patients in the UK or to patients in China, and similarly [what we learn from] patients in India can be applied to other patients.

That’s one thing that’s really nice [about] genetics. Ultimately, we are all humans, so if we learn something from one population, we can apply that knowledge to all humans, to many other people.

Dr. Claudia Gonzaga-Jauregui, Geneticist and Genomicist

Cevia Yellin

Cevia Yellin is a freelance writer based in Eugene, Oregon. She studied English and French literature as an undergraduate. After serving two years as an AmeriCorps volunteer, she earned her master of arts in teaching English to speakers of other languages. Cevia's travels and experiences working with students of diverse linguistic and cultural backgrounds have contributed to her interest in the forces that shape identity. She grew up on the edge of Philadelphia, where her mom still lives in her childhood home.