Profiling plasma proteins across hundreds of monogenic diseases can create a map of how the body responds to the disruption of specific genes, aiding in the understanding of unknown diseases.

“What I'm trying to do is to ask if somebody has a disease that is caused by a single genetic mutation and there's about 6 7,000 such we call them monogenic diseases where if you have a mutation you will get a disease childhood disease or an adult disease. So what I want to do is to look at individuals with these mutations and profile their plasma. basically measure all the proteins and see are they different from healthy people. And if you do that across hundreds of diseases, you basically get a picture of how our body responds to the disruption of specific genes.”