I am a clinical geneticist and physician-scientist and serve as the Director of Personalized Care at the Children’s Hospital Los Angeles as well as a Professor of Clinical Pathology and Pediatrics at the Keck School of Medicine of the University of Southern California.  In a nutshell, I spend my time trying to figure out how to more quickly diagnose children with genetic disorders and figure out the best ways to help them.

 

I grew up on a farm in Central Pennsylvania, and after attending Bucknell University, spent nearly 30 years in Philadelphia.  This started at the University of Pennsylvania (Penn) doing my medical degree and a PhD in molecular and developmental biology.  I then shifted to Children’s Hospital of Philadelphia (CHOP) for my residencies in Pediatrics and Clinical Genetics.  Following that, I got my “first real job” (according to my late father) at CHOP and Penn seeing children with rare disorders in clinic and working to better understand their cause in my research lab.  As with many of the important projects in my lab, our introduction to WDR26 came from a seeing a young girl in clinic.  At that time, we knew very little about the WDR26 gene and even less about what the clinical effects of changes in the gene might be.  This encounter, now more than 10 years ago, has developed into a much, much broader effort with dozens of families and a growing list of scientific collaborators.  However, the encounters with every individual child, as well as the inspiration from families when they get together, have served to push us to ask the hard, but critical questions that will hopefully one day lead us to better treatments.

 

In 2020, I was recruited to come to Children’s Hospital Los Angeles to identify ways to diagnose and propose therapies for children at a health system-wide level.  To help me with this, I have had the good fortune of many amazing meaningful encounters with families and family support foundations. These experiences serve as a constant anchor when trying to navigate change in a large health system for children with rare disorders!