I work at the Rockefeller University in New York.
I use next-generation sequencing techniques to decipher the genetic cause of rare life-threatening disorders. My main discovery was the first genetic etiology of Isolated Congenital Asplenia. A mutation in the ribosome is responsible for the absence of the spleen.
Fascinated by Science and this enigma. I want to understand it. I also love Shuffle board, tennis, nutella and mountains. I am super lucky and a terrible singer.