By Molly Rossi, ’16
For biochemistry major Lexi Caldwell, ’16, a summer internship with D.C. nonprofit Genetic Alliance was about much more than science. One of the world’s most successful patient advocacy organizations, Genetic Alliance serves people with genetic disorders — people like Caldwell’s own mother. Ten years ago, she was diagnosed with mastocystosis, a disorder caused by genetic mutations. Caldwell and her sister are both susceptible to the disease. “The internship inspired me to become more engaged in genetic science, but more than that, it gave validation that there are real people out there dealing with this,” said the UR senior. “That’s what’s most inspiring — knowing people that motivate you to be passionate about a particular issue.”
Caldwell’s internship supervisor, CEO Sharon Terry, founded Genetic Alliance after her own children where diagnosed with a rare genetic disorder called pseudoxanthoma elasticum (PXE), which causes blindness by the age of 30. When Terry’s children were first diagnosed, she immediately began receiving calls from researchers asking for genetic material in order to find out more about the rare disease. “Sharon was really excited,” said Caldwell. “You want your children who have been diagnosed to help contribute to a cure. But soon after, another researcher contacted her for blood samples. When she asked if they could share, they said it was impossible.”
That’s because, before 1986, there was no central biological repository, no one place where all researchers could share resources and findings. In response to this gap, Terry created Genetic Alliance as a platform that allows patients with genetic disorders to share their medical information with researchers, and to connect with other patients. It now connects thousands of patients across America. “At first she said she didn’t understand a gene from a hub cap, but once it immediately affected her, she began to build a network,” said Caldwell.
She could immediately relate to Terry’s story because it was much like her own. As a part of her internship, Caldwell was able to visit the National Institutes of Health (NIH) in Bethesda, Md. — the exact place her mother had donated her own genetic information for scientific research. “My mom, once she was diagnosed, would go down to NIH every six months to participate in clinical trials,” said Caldwell. “It was really special for me to see the consequence of studies like this, because it allows patients to not only better understand their condition, but to help people who are affected in a similar way.”
Caldwell also had the chance to research FDA regulations on pharmaceutical devices. She worked with people from different scientific disciplines, including genetic counselors and computer scientists, whose interest in public health brought them together. “It made me see that there are fewer limits than I may have seen before. Science is such a big world, and there is so much to be done that can help people,” said Caldwell. “One shouldn’t have to choose a definite field as much as one should choose what impact they want to make. I now know that I want to see what there is out there. I’m really open to exploring different fields.”
After her internship, Caldwell is especially excited about being a part of translational science — the science that connects research to real application in people’s lives. “Genetic Alliance shows people that participating in their own health can accelerate the science,” she said. “A lot of science majors come in and see two paths: going to graduate school or becoming a doctor. But I think there is also a lot to be said for the area in between that connects that bench work to helping people.” As a 2015 Civic Fellow, Caldwell was especially focused on the ways in which her work at the nonprofit served others. She remembers a dinner for Civic Fellows where former University chaplain David Burhans had guiding words for the students: “He said that we should be thinking about three things: ‘Who am I? Why am I here? And what difference can I make?’ I thought about that again and again during my internship.”
With that in mind, Caldwell has been weighing her future options with an eye towards public service. “I’ve been thinking, what does the world need from me, and what gap do I feel inspired to fill?” Motivated by the holistic approach Genetic Alliance utilizes to serve patients, Caldwell is considering applying to genetic counseling positions that marry psychology and social work with an understanding of medical genetics. As someone not only susceptible to a genetic disorder, but with a loved one who has suffered from one, she feels it is crucial that patients not only become proactive in their own health, but are able to connect with others who face similar challenges. “When people see that they are not alone, and are part of a community, people engage in a way that wouldn’t have otherwise been possible. It brings people together.”