creating a career out of rare disease

The story of Lauren

I was diagnosed with Marfan syndrome when I was around 8 years old because my brother was very tall and slim for his age, and had a dislocated lens. This is what first inspired my interest in human genetics and Mendelian genetic disorders. While many people would not want to learn more about their disease and the ways in which their diseases will impact their futures, having Marfan’s has inspired me to become a rare disease researcher. I am currently a researcher at the NIH Undiagnosed Diseases Program, which aims to provide diagnoses for people with ultra-rare and rare diseases. I am applying to graduate school next year in Pathology or Human Genetics, and I hope to one day develop molecular cures for Marfan syndrome or other rare diseases. I am first and foremost a rare disease advocate, and I hope to keep my fellow rare disease brothers and sisters at the front of my research! I am so lucky to be able to be a biomedical researcher for the rare disease community.Â