Elizabeth Carbonell recently experienced a breakthrough that many medical students can only imagine. During her research project as a part of our Visiting Research Internship program (VRIP), she was able to diagnose a patient with a rare genetic disease. What was remarkable was that the patient had been undiagnosed for 25 years. Describing this as being in the “right place at the right time”, Carbonell is motivated to continue clinical and translational research after seeing firsthand its impact. We caught her as she was about to begin her second year of medical school at the University of Massachusetts.

Tell me about your c/t research project? What were your findings?

My research project involved using a new method of sequencing to diagnose individuals with rare genetic diseases who have remained undiagnosed after comprehensive sequencing analysis. This method is called long-read sequencing, and it’s used to detect variants or mutations in low-complexity regions of the genome that previous methods have not been able to successfully detect.

During my analysis, I found a variant that was described in a paper published earlier this year.  This variant had been described only in females and had been shown to produce a dominant disease that causes refractory seizures, low bone density, and developmental delay. I was looking through the database of individuals who hadn’t been diagnosed, and I found a male who had been undiagnosed for 25 years who had the same variant as described in the paper. Because of this publication’s finding, I was able to diagnose him and provide some answers to his family about his condition, which was a very rewarding experience for me.

“Because of this publication’s finding, I was able to diagnose him and provide some answers to his family about his condition.”

This finding is also important for the scientific community because it’s the first male reported to have this condition. We’re currently in the process of publishing this case so clinicians will know how the variant presents itself in both genders, which turns out to be very similar.

Tell me about your experience working with your mentor?

I have two mentors, my assigned mentor Anne O’Donnell, MD, PhD, Boston Children’s Hospital, and my other mentor is my postdoc supervisor Sarah Stenton, MD, PhD. They’re both amazing people – very approachable and knowledgeable.

Dr. O’Donnell made it a point to meet with me regularly to discuss my project and set goals throughout the summer. She encouraged me to explore her specialty, metabolism and genetics. Her passion is clearly visible in those fields, and it’s actually contagious. I also had the opportunity to shadow her in the clinic and the hospital. It was a great experience for me to see how she interacts with patients.

Sarah Stenton is the person I go to with all my questions. She has so much patience. She trained me on all the databases I had to use. She also taught me how to be a better researcher and writer.

What’s your biggest takeaway from the VRIP program?

I think my biggest takeaway is that there is truly something for everyone in research and medicine. There are so many fields and so much variety that exists that you can really do anything with it.

Previously, I had been discouraged from conducting research because I had a lot of experience in basic science research, and I didn’t see the impact right away. I didn’t feel as connected to the patients as I do now. This was my first time doing computational research. And although I don’t have interactions with patients, I do feel more connected because I’m reading about their stories, their experience with the disease, and trying to find the causes.

September is women in medicine month. Why is it important to have greater representation of women in medicine? What inspires you as a woman to serve as a physician and researcher?

I think a diverse healthcare field that represents the patient population is essential, whether that be diversity of opinions, backgrounds, gender, races, etc. I think greater representation of women in medicine is important because women bring unique perspectives. We all have different experiences because of our biology but also because of the way we experience society.

“I think greater representation of women in medicine is important because women bring unique perspectives. We all have different experiences because of our biology but also because of the way we experience society.”

Although there has been an important movement towards gender equality in the workforce, I think there’s still a lot that we can do. For example, we learned in my school that just a couple of years ago the first female body was added to the anatomy app that all the medical students use to learn anatomy. And that was just a couple of years ago, 2021. Before that, students were taught using the male body as the norm and women’s bodies as variations of the male body. I think it’s a disservice to learn that way. Now there’s been a lot of movement toward adding female bodies to textbooks. I think that’s a great example of why we need more representation in medicine. It benefits everyone in the long run.

Why do you think medical students should consider the VRIP program for themselves? Is there any advice you would give to those interested in applying?

VRIP is an excellent program for so many reasons. First, it pairs you with a Harvard physician who works in your area of interest as a mentor. These mentors are excited to work with students and very willing to mentor, which has been great.

You also have the opportunity to conduct top-notch research in one of the best systems in the country, make connections with other students, and form friendships that will probably last a lifetime.

My advice to students is that they should apply early in the application cycle. This application is due much earlier than other summer programs so just be on the lookout for the deadline and also, just to be genuine on your application. No need to try to impress. They just want people who are doing good things and are very interested and passionate about what they’re doing.