Where are you currently at Graduate School and what are you studying?
I am at Kean University’s Genetic Counseling Graduate Program
What motivated you to volunteer for the NR2F1 Foundation?
My motivation to volunteer with the NR2F1 Foundation stemmed from my desire to gain a deeper understanding of what it takes to effectively run an advocacy organization. I am eager to connect with families impacted by BBSOAS, listen to their stories and experiences, which I believe will enhance my ability to serve them better in the future. I am very grateful to the NR2F1 Foundation for welcoming me into their community, and I am excited about the opportunity to contribute to the foundation's mission and support the families we serve as we move forward together!
What project are you working on for the Foundation?
In early 2025, the NR2F1 Foundation awarded a grant to Dr. Clement Chow at the University of Utah to launch a Drug Repurposing Project focused on identifying potential treatments for BBSOAS.
Using fruit fly models, Dr. Chow and his team screened more than 1,600 existing medications already approved for use in the U.S. and Europe. More than 30 compounds showed measurable improvement in the BBSOAS disease model, and through further validation and consideration of factors including safety, accessibility and relevance to the BBSOAS community, this was narrowed down to two promising candidate drugs.
My role will be to develop a communication strategy to support the rollout of the Drug Repurposing Observational Study to BBSOAS families and our wider community. I will focus on ensuring families receive clear, accessible information about the study, understand what participation involves, and know how they can get involved.
Where and what did you study for undergrad?
I attended the University of North Carolina at Wilmington, where I earned my Bachelor of Science in Biology with a minor in Psychology.
What Patient Advocacy Group requirement does your course have?
As part of my graduate program, we have a summer rotation where we volunteer with a patient advocacy group. This experience is designed to foster interaction with families and help us understand the work that goes into supporting them. Throughout the year, we also meet with advocacy groups, often led by parents, to hear their stories and learn how we can better assist families in our future careers.
What rotation are you on at the moment?
Earlier this summer, I rotated with a pediatric genetics clinic in Austin, Texas. Now, I am rotating with Natera Laboratories, getting experience on the workflow of genetic testing, report writing, and genetic counselors’ role in the industry setting.
Have you volunteered before?
In undergrad, I established the first chapter of Morgan’s Message on my college campus. Morgan’s Message is a non-profit that promotes the equal treatment of mental and physical health for student-athletes with hopes to eliminate the stigma surrounding mental health. As a student-athlete myself, a part of the division 1 swim team, this cause is near and dear to my heart. I organized and facilitated campus-wide meetings to encourage conversations about mental health. I also met with administration to advocate for the hiring of a sports psychologist, which we were able to get!
Can you tell us about your thesis?
My thesis is titled “Assessing the Clinical Utility of a Phenotype-Based Genetic Test Prediction Measure in Patients with Hypertrophic Cardiomyopathy at WellSpan Health's Center for Inherited Cardiovascular Diseases.” The objective of my study is to increase the number of referrals for genetic counseling and testing for hypertrophic cardiomyopathy (HCM) from other healthcare providers. By validating a phenotype-genotype predictor tool for HCM, I aim to help healthcare providers recognize “red flag” symptoms and identify patients who would benefit from genetic testing, ultimately preventing adverse events like sudden cardiac death for patients and their families.