2001: The Fordham Laboratory for Familial Dysautonomia Research is the first group in the world to submit a paper demonstrating that Familial Dysautonomia is caused by mutations in the IKBKAP gene. This groundbreaking discovery meant that carrier testing and prenatal screening of the general population was now possible. Click here and here to learn more.
Because of the FD-causing mutation, individuals with FD make insufficient amounts of the protein, IKAP, which is encoded by the IKBKAP gene. Research is directed toward finding treatments that will 1) increase the levels of the functional IKAP protein in FD patients and 2) promote autonomic stability in these individuals.