The Power of Mentorship
Lynn M. Petukhova, PhD, Assistant Professor Dermatology and Epidemiology, CUIMC
We spoke with Lynn M. Petukhova, PhD, assistant professor of dermatology and epidemiology at Columbia University Irving Medical Center (CUIMC), about her experience working with the Irving Institute for Clinical and Translational Research.
What is your area of research?
I am a genetic epidemiologist. I have been in love with the field of genetics since I first learned about it in seventh grade science class. I've always wanted to run human genetic studies as an independent investigator, and when I was promoted to faculty, I had to pick a disease to focus on. I chose a devastating disease called hidradenitis suppurativa (HS), also known as acne inversa or Verneuil's disease. It’s a chronic inflammatory skin disease that's both prevalent and understudied.
HS presents as painful, fluid-filled lesions that occur in parts of the body that aren't typically affected by acne, like the armpits, groin, and buttocks. It can be physically debilitating because those areas are involved in movement; friction in those regions exacerbates the pain a person is already experiencing from the lesions. It's often misdiagnosed as an acute skin infection and treated with antibiotics and incisions to drain the lesions, which have limited efficacy. And because it occurs in the groin and buttocks, people don't like talking about it, even with their doctors.
People have always thought it was a rare disease, when in fact epidemiological studies indicate that its prevalence is between 1% and 4%—as prevalent as psoriasis. And psoriasis is a condition with at least 12 biologics with FDA approval to target specific pathways in the immune system. By comparison, HS has only one agent with FDA approval, but approximately 50% of people fail to respond to that treatment.
So there’s a significant unmet need to better understand and treat this disease. As for why it remains understudied, I believe racism is a factor; the disease has long been labeled an African American disease. So I also felt a strong moral imperative to study this disease.
But as a geneticist, I knew I would need thousands of participants for my genetic studies to do it right. And at that time, HS had no patient registries and no genetic data in the public domain. So how do you start from zero? Human genetic studies are large enterprises, and usually they're not something that can be run by one person. There are collaborations like cross-institutional groups working to build cohorts. How do I do it as a single early-stage investigator with no resources? And that's really where the CTSA stepped in.
How did the CTSA help you?
The Irving Institute gave me the initial resources that allowed me to turn around to the dermatology community and say, “I have funding to build a cohort, I have my institution behind me, so come join us.” I think being able to put some money on the table and show solid funding really incentivized people to start collaborating with me.
My very first grant from the CTSA was a pilot grant that gave me $50,000, and that's what I used to start setting up collaborations with clinicians who were running HS specialty clinics. I specifically targeted that to clinicians with access to large groups of patients who were receiving ongoing care so I could build a longitudinal cohort and have the opportunity to engage the participants as partners in research.
I was also invited into the KL2 program. At the time, I wasn't really sure what that entailed, but the mentoring and the career guidance I received from Daichi Shimbo, MD [Director of TRANSFORM] and Jeanine Genkinger, PhD [Co-director of KL2 Education] was priceless. It’s hard to overstate the value of having access to people who have built outstanding careers for themselves and really value the importance of mentoring. They were just so selfless in giving their time to me. They helped me understand challenges I was facing and provided really solid guidance based on how they navigated those same problems.
When I received my K01, I had to relinquish my KL2 award; the prospect of losing that support system was frightening. Fortunately, there were other systems available to help with the transition. An earlier cohort of KL2 scholars had created ASPIRE!, a peer-mentoring system to support early-career faculty researchers. As I was preparing to transition out of the KL2 program, a KL2 scholar from my cohort, Robyn Gartrell [MD], decided to start a new peer-mentor group based on ASPIRE! and invited me to join.
It was perfect timing for me. That group of peer-mentors, which also includes Katherine Dimitropoulou [PhD] and Cristina Fernandez [MD], has been an invaluable source of support as I have further transitioned into independence. I was so happy to learn recently that the CTSA has committed to further expanding the ASPIRE! program, spearheaded by the original team.
When I first started working with the CTSA in 2018, I was really starting from ground zero. Today I have successful projects and strong relationships with mentors across the campus, and I scored in the sixth percentile on my first R01.
Dr. Shimbo has really been there every step of the way—from giving me feedback about my science to guidance with managing my career. The whole CTSA support staff has been so helpful and available. I just feel like everyone there has been phenomenal.
What’s next for your research?
Right now, I'm really focused on building these cohorts. I knew from other diseases that have been successful in not only gene discovery but also clinically translating those genetic discoveries into new treatments that I would need tens of thousands of participants. So, my modest goal was to put together a cohort of 5,000 cases within five years—and I've reached that already. We're doing the analysis by tapping into biobanks and by working with these collaborators. We're in the process of performing the first meta-analysis genome-wide association study for HS.
I'm also doing mutation studies in collaboration with Josh Milner [MD], a clinical immunologist here on campus. He's a co-investigator on my R01 and really involved in the mutation studies I've been doing. We've identified patients who have a diagnosis of HS that is being poorly managed by the available treatments. We've done exome sequencing and we've identified a subset that we think have a mutation in a gene that causes an inborn error of immunity. We’re in the process of validating that work. It’s really exciting for us because it opens up the opportunity for Clinical Laboratory Improvement Amendments-certified testing for the first time with HS and also potential targeted treatments using the genes we've identified. We have really exciting preliminary data, and the studies are expanding.
My K01 is focused on building cohorts, using electronic health records, and using the internet to capture hidden populations who have HS but are not seeking treatment for it. And then my R01 will support sequencing and genotyping of the cohorts built with my clinical collaborators. Using data from 2,500 HS cases, we will perform a series of rigorous, well-powered genetic studies, including both exome studies and genome-wide association studies, within the next couple of years. And from there, our initial mutation studies are already suggesting new targeted treatments. I think within the next five years, some of this work will have an immediate impact on patients, which to me is the most exciting and fulfilling thing about my work.
This has become something of a personal quest for me. From the beginning of my project, I've prioritized partnering with patient advocates. I've built these relationships now over three or four years. It really is a disservice to the science to not give them a platform for participating in the research. Finally, through those relationships, the pain that HS patients are experiencing and the challenges that they're managing every day have become very real and tangible. Those relationships keep me both inspired and grounded. So it's exciting to see that some of my work is on track to have an impact very soon.
What advice would you give researchers here at CUIMC about the Irving Institute?
I am the CTSA's strongest advocate and I wish I knew about them earlier. CUIMC is a large institution, and in the nooks and crannies of the medical campus there are people like me who are early-stage researchers who could use this phenomenal resource to get to the next level. And when I speak with candidates who I've seen interviewing at Columbia, I point out how important the CTSA is—it really should be part of their consideration in choosing an institution for the next stage of their career. For early-stage investigators, the CTSA offers resources that just can't be matched.
I came to Columbia from Rockefeller University, which was such an easy ecosystem to navigate in part because of its size; if I needed something on campus, it was simple to figure out where to go. At Columbia, it’s easy to feel overwhelmed. But the Irving Institute website does a really good job of organizing information about available programs and resources. It’s a great place to start searching as an early-stage investigator. Even if you think they won't be able to help you immediately, you'll find something or someone to connect with and get started.
About the Irving Institute
The Irving Institute for Clinical and Translational Research is home to Columbia University’s Clinical and Translational Science Award (CTSA) Program Hub. As part of our commitment to training and supporting the next generation of clinical and translational researchers here at Columbia University Irving Medical Center, we offer over 70 services and programs covering six broad categories: research support services, core facilities, funding opportunities, community engagement, seminars and workshops, and education, training, and mentoring. We encourage researchers and collaborators at every level to explore our offerings and learn how we can help you develop your skills and advance your research.