How long have you worked with the Potocsnak Center for Undiagnosed and Rare Disorders? How long have you been at Vanderbilt/VUMC?
I've been with the Potocsnak Center since April 2022.
What does your job entail?
I provide genetic counseling to patients and their families who are being evaluated by the program. My goal is to help patients understand the advantages, limitations, and nuances of genetic testing before we proceed with the tests. I also help explain the results of the tests when they are available. On the research side, I help analyze and interpret raw data from whole genome sequencing using genomic software, tools, and databases. Additionally, I help connect patients, researchers, and organizations focused on rare diseases to promote collaboration and progress in genomic medicine.
What do you enjoy most about your job?
It’s a very exciting time to be working in genetics. The pace at which our knowledge and tools for genetic research have advanced in the past 10 years is hard to overstate. I love constantly learning about new approaches to understanding the human genome and having the privilege of applying these new approaches to finding answers for our patients.
What is your workplace superpower?
Making connections with patients and their families. I’ve worked in rare disease for long enough to recognize the signs of a person who has tired of their role as a medical enigma. My teaching and counseling background allows me to put a patient’s work up in context in an empathic, patient-centered manner. Even in cases in which we are not able to reach a diagnosis, it’s tremendously important to equip patients and families with knowledge and understanding of what has been done up to this point in our efforts to reach one.
How long have you lived in the Nashville area? Where are you from originally?
I moved from Denver to Nashville about a year and a half ago. I am originally from Rhode Island.
Favorite Nashville restaurant?
Tennessee Brew Works - great burgers!
What are you reading, watching, and/or listening to right now?
Reading: Born a Crime by Trevor Noah
Watching: The Sopranos
Listening: Gus Dapperton
What is a skill you have that might surprise people?
Baking - chocolate chip peanut butter cookies from scratch are a family staple.
What does your ideal weekend look like?
My ideal weekend is getting outside with some good weather, my wife Steph, and our dog Dax.
