I am a clinical geneticist at the Children’s Hospital of Philadelphia and Associate Professor of Clinical Pediatrics at the Perelman School of Medicine at the University of Pennsylvania. I work as a full-time clinician and spend most of my days working with patients and families, teaching, and training the next generation of clinical geneticists. Originally from South Florida, I completed my undergraduate degree at Rollins College. I then went to medical school at the University of Virginia where I did my residency training in Pediatrics. Following residency, I came to Philadelphia for my Medical Genetics training at the Children’s Hospital of Philadelphia (CHOP). 

 

As part of my genetics training at CHOP, I conducted research in the laboratory of Dr. Matt Deardorff. During that time, we stumbled onto a patient with a change in the gene WDR26 that eventually brought us to the initial description of the condition, now known as Skraban-Deardorff syndrome, in 2017. Since that time, I have continued to work with these amazing individuals. They are truly awe-inspiring. Their resilience, infectious energy, and pure joy for life makes it easy to instantly fall in love with them and motivates me to want to continue striving to find ways to improve their lives. All it takes is to see them smile and you’re hooked. Their families are the most dedicated and motivated group of people that I have ever had the privilege with which to work, and it is no secret that they are the force behind the success of the Skraban-Deardorff Syndrome Foundation. Without them, none of this would be possible. A sincere thank you to them for everything they do and for the honor of being part of their children’s lives.