We are studying extreme phenotypes where pain is absent, and severe spontaneous pain. Knowing what genes are critically involved in human pain perception could provide key entry points into the development of novel analgesic drugs.

We identified individuals with a human analgesia syndrome called Congenital Indifference to Pain (CIP). CIP is characterized by the total absence of pain perception, including pain-free broken bones, tooth abscesses and even child birth. We discovered CIP patients have genetic mutations, resulting in deficiency of the protein Nav1.7, a voltage gated sodium channel. Based on this severe phenotype of absence of pain in humans, we predicted that the single-gene defect causing CIP could define an important novel human drug target for treating pain.

We are analyzing CIP patients without deficiency of NaV1.7 and these families could represent additional opportunities to identify targets that are essential for human pain perception.