Intern Spotlight: From Learning to Impact

At Simons Searchlight, our work is not only about building resources for rare disease research today — it’s also about helping prepare the next generation of researchers, clinicians, and advocates who will move the field forward.

Through internship and learning opportunities, students can gain firsthand exposure to long-term research, genetic counseling, patient advocacy, research partnerships, and the many people and processes that make rare disease research possible.

This summer, we were excited to welcome back Juanita Florez-Bedoya for her second internship with Simons Searchlight. Juanita is a Biology student at Cornell University concentrating in Genetics, Genomics, and Development on the pre-MD/PhD track.

As she wraps up another summer with our team, Juanita reflects on what she has learned, how her experiences have shaped her interests, and where she is headed next.

As you wrap up your second year as an intern with Simons Searchlight, what are some of the projects you’ve worked on or new things you’ve learned?

This year was quite different from my first summer with Simons Searchlight. I had the opportunity to work on a variety of projects with different members of the team, which allowed me to better understand the behind-the-scenes work that goes into running a natural history study.

A lot of my work involved looking at existing processes and resources with a fresh set of eyes and identifying areas where things could be made clearer, more efficient, or easier for others to navigate.

I also had the opportunity to become more involved with some of the partnerships that support Simons Searchlight, including SPARK and Research Match. Attending the SPARK annual clinical site meeting and testing Research Match surveys gave me a better understanding of how different programs and teams can work together to advance research.

I also attended genetic counseling discussions, medical grand rounds, and other lectures, which helped me learn more about the clinical side of rare neurodevelopmental disorders and how providers work with families navigating genetic diagnoses.

Is there a project, accomplishment, or experience you’re especially proud of from your internship?

One of the experiences I’m most proud of actually grew out of my first summer with Simons Searchlight. Last year, after attending various gene-specific conferences, I was inspired to become an advocate for Chung-Jansen Syndrome, a rare genetic condition caused by changes in PHIP, one of the genes studied by Simons Searchlight.

This year, I organized and hosted the first in-person family and scientific conference for the Chung-Jansen Syndrome community. My experience with Simons Searchlight gave me a valuable perspective on how families, clinicians, and researchers can come together around a rare disease, which I was able to carry into my work as a patient advocate leader.

My experiences at Simons Searchlight have also motivated me to become more involved in researching rare neurodevelopmental disorders. This fall, I will begin the Simons Foundation’s Shenoy Undergraduate Research Fellowship in Neuroscience (SURFiN), where I intend to use Simons Searchlight data and iPSCs in my research project.

It is exciting to see how the experiences I’ve had through Simons Searchlight have continued to shape the direction I want to take in research.

Looking ahead, what are you most excited about?

I am most excited to continue exploring how research, clinical care, and advocacy in rare neurodevelopmental disorders can come together to improve the lives of individuals affected and their families.

Over the past two summers, Simons Searchlight has given me the opportunity to see rare disease research from many different perspectives and has strengthened my interest in pursuing a career that combines medicine and research, while continuing to work closely with rare disease communities.

I am extremely grateful to the Simons Searchlight team for giving me the opportunity to learn, ask questions, explore different areas of the field, and discover how I want to continue contributing to rare disease research.

Supporting Students in Rare Disease Research

Juanita’s experience reflects an important part of Simons Searchlight’s broader role: creating opportunities for students to learn about rare disease research, gain hands-on experience, and explore how research, clinical care, advocacy, and collaboration come together.

By providing exposure to different aspects of the rare disease field, we hope to help students build skills, discover their interests, and explore future paths in research, medicine, advocacy, and beyond.

We’re grateful for Juanita’s contributions over the past two summers and excited to see where her experiences take her next.