Rare Disease Day 2018

During transitions, I like to think a lot about the long journey that is the MD-PhD program + residency to reach the ultimate goal: a faculty position. In some ways it feels surreal but this year I was reminded about how much work there is still left to do in understanding the genetics underlying disease. 

Over the course of my career, I have had the privilege of exploring the depths of DNA from children and adults who were diagnosed with a yet unknown disease. And careful work, dedicated families, hard-working students and a fantastic group of collaborators have allowed us to uncover new disease genes and disease mechanisms.  

I am humbled that on Rare Disease day, my contributions to science were highlighted by the NIH on the NIH Directors blog:  https://directorsblog.nih.gov/2018/03/01/creative-minds-looking-for-common-threads-in-rare-diseases/