Emily A. DeBoy
Our study defines a novel germline cancer predisposition syndrome, the long telomere syndrome, with a mechanism distinct from traditional classifications of tumor suppressors and oncogenes. We found that individuals with heterozygous loss-of-function variants in POT1, which encodes telomere binding protein POT1, had extremely long telomere length and a pan-tissue risk for clonality and malignancy. Typically, telomere shortening with cell division acts as a type of tumor suppressor, limiting the expansion of clones with advantageous mutations. However, individuals with germline telomere lengthening variants have a capacity to support the expansion of these clones, allowing increased numbers of somatic mutations to be acquired with a standard mutational rate, thus leading to increased risk for neoplasia. This offers insight into an extensive literature of population-level association of telomere length with clonality and malignancy. It also provides a cautionary tale against the manipulation of telomere length in pursuit of the extension of human lifespan. This work was done in the lab of Dr. Mary Armanios.
Questions & Answers
Why did you choose Johns Hopkins for your work?
I chose to come to Johns Hopkins for many reasons, but above all, it was the people. So many of the roadblocks I’ve encountered in my work have been solved through spontaneous conversations with classmates, neighboring labs, incredible core facilities and faculty willing to chat after class.
What does receiving this award mean to you personally and professionally? Do you have any connection with the particular award you received?
I’m honored by the recognition of this work and all of the effort that went into it. Especially at this transition point in my training, this feels like a capstone of my research accomplishments so far. I’m particularly honored to be receiving this award because Paul Talalay founded the M.D./Ph.D. training program at Johns Hopkins.
What contributed to your project’s success?
So many factors came together to make this project a success, but specifically I would like to credit the patients and families involved in the study. Our group was incredibly fortunate to have been approached by one of the families featured in this work with questions about the variant they carry and a desire to participate in research studies to understand more. Without their and the other participants’ initiative, openness and generosity with their time, this study would not have been possible.
What thoughts do you have about Young Investigators’ Day itself, as a celebration of the roles students and fellows play in research at Johns Hopkins?
I think Young Investigators’ Day is a wonderful celebration of the contributions that trainees make to research at Johns Hopkins. I’m grateful to be part of a community that values and invests in the growth of its young investigators.
What has been your best/most memorable experience while at Johns Hopkins?
It’s hard to choose after eight years of medical/graduate school, but one that comes to mind in relation to this project was when I encountered a patient with a possible telomere syndrome on my clinical genetics rotation. At this point, in my third year of medical school, I had finally reacclimated to clinical medicine but still felt like I was playing catch-up and always had more to learn. But when I met this patient, I immediately recognized the features and
patterns we discussed so often in lab. It was the first time I ever felt like an expert in the hospital, and I was humbled to have the opportunity to use that knowledge to help a patient.
What are your plans for the next year or so? Graduating, looking for faculty positions, etc.?
I’m excited to be staying at Johns Hopkins for my residency in pediatrics/ medical genetics.
Tell me something interesting about yourself that makes you unique. Do you have any special hobbies, interests or life experiences?
I’m an avid baker, and apply the same exacting standards that I use in the lab to make all sorts of pastries, cakes, pies, bread and more for my family and friends.