DEGREES: B.A. in biology and with honors in history; M.S. in genetic counseling, Sarah Lawrence College

JOB TITLE: Assistant professor/genetic counselor; director, Genetic Clinical Trials Center; and program leader, Lysosomal Storage Disease Center Program, Emory University School of Medicine, Department of Human Genetics; co-founder, ThinkGenetic, Inc.

FAVORITE TRINITY MEMORY: My first year, slipping along with friends on ice over the Long Walk/quad laughing, having an impromptu snowball fight/rugby tackle session, and dodging the plaque before heading back to our rooms to talk all night.

How did you get started in your field?
One of my textbooks had a blurb about genetic counseling. Intrigued, I wrote to the National Society of Genetic Counselors. Through mailed information, I learned about how genetic counseling combines working with families affected by genetic conditions, translation of complicated genetic concepts into comprehensible information, lifelong learning, and advocacy. I was sold! A day spent shadowing a genetic counselor cemented my certainty. I took a year to volunteer as a case manager in a genetic testing/paternity testing laboratory. After two years of course work in genetics and psychology and a variety of internships, I started my career in 1999.

What do you do in your positions?
The very cool part of my job is that every day brings something different. In the clinic and through clinical research, I work with patients and families who are living with Fabry disease and other lysosomal storage conditions, helping them navigate the complicated world of treatment, testing, and daily life with a progressive, life-threatening genetic condition. I have worked with many of my patients since 2003, and I find that it makes my job incredibly rewarding to be able to be with the same families as they hit major life milestones both positive and negative. My research is focused on newborn screening, psychological implications, and impact on women and children with Fabry disease. Fabry has moved from a genetic condition without a treatment to one with an FDA-approved therapy in clinical trials. Our Genetic Clinical Trials Center (GCTC) is very active, and we offer patients the opportunity to participate in clinical trials for upcoming therapies. As GCTC director, I work with the team to determine which trials we should open at our site, oversee site finances, supervise the team, plan and support our overarching goals and mission, liaise with stakeholders, and develop research protocols. In my spare time, I am moving to advocating for the broader genetic community by founding ThinkGenetic.com. 

What is ThinkGenetic?
ThinkGenetic is a start-up focused on helping those living with a genetic disease by shortening the time to diagnosis and providing trustworthy, patient-focused guidance. The company is a family affair, with the idea coming from my father, whom we diagnosed with a genetic condition in his 60s. Our original goal was to create an interactive website using the power of IBM’s Watson to provide answers to questions from people living with a genetic condition. That vision has expanded so that we are helping individuals who have a possible genetic condition work with their health care providers to find a diagnosis. 

What do you enjoy most about your work?
I love the variety. In one day, I may move from a focus on one patient or family trying to get them the best resources and treatment, to writing a research protocol designed to uncover the truth behind a genetic mystery of Fabry, to teaching graduate students about teratogens, to flying to California to talk at a patient advocacy meeting. I enjoy the way in which my plan for the day is totally out the window if a team member has a brilliant idea or there is a patient needing extra help.

What are the biggest challenges?
My Emory team is mostly grant funded. Changes to scientific funding or health care policy can impact our operating budget. Our broader challenge at Emory and ThinkGenetic is helping the general public and health care professionals understand the importance of genetics as it relates to health issues. Many individuals move from specialist to specialist with chronic health concerns, but it takes a view of the whole body and an understanding that many seemingly unrelated symptoms are actually related and features of a genetic condition to make a diagnosis. 

How did your experience at Trinity help prepare you?
I credit Trinity for helping me develop the skills to succeed at my various jobs. My supportive advisers allowed me to follow my heart and double major in the disparate history and biology majors, resulting in my ability to convey complicated information understandably and to make unusual cross-discipline connections. The Biology Department insisted on frequent scientific presentations, helping me become comfortable speaking in front of an audience of experts. My experiences as a peer mentor were my first foray into peer counseling. The History Department honed my writing skills through thoughtful critiques and interesting paper topics. Overall, I would not be the person I am today, professionally or personally, without my Trinity experience.