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.


2003: Tocotrienols increase IKAP protein levels in cells derived from individuals with FD. This is the first treatment developed for FD that addresses the underlying genetic defect on a molecular level. Click here to learn more about tocotrienols. Click here to learn more
2005: Tocotrienols reverse IKAP and monoamine oxidase (MAO) deficiencies in individuals with FD. Click here to learn more about tocotrienols. Click here to learn more
2008: After 3-4 months of tocotrienol ingestion, patients experience: 1) a significant decrease in the number of crises; 2) a post-exercise increase in heart rate; and 3) a decrease in the QT interval. These findings clearly demonstrate that tocotrienol ingestion by individuals with FD results in a significant improvement in autonomic stability. Click here to learn more about tocotrienols. Click here to learn more



2003: EGCG, a compound in green tea, alters the splicing of the IKAP RNA and dramatically increases the amount of IKAP protein produced in cells of FD patients. The combined treatment of EGCG and tocotrienols results in a synergistic (greater than additive) increase in the amount of the IKAP protein produced in cells from individuals with FD. Click here to learn more



2010: Vitamin A and beta-carotene increase IKAP levels in cells derived from individuals with FD and in blood cells isolated from individuals ingesting these compounds. As a consequence of the ingestion of these compounds individuals with FD demonstrate increased autonomic stability. These supplements are taken in conjunction with the tocotrienols and green tea. Click here to learn more



2005: The observed monoamine oxidase (MAO) deficiency in individuals with FD was groundbreaking, as it identified for the first time the triggers of hypertensive crisis in these individuals. A tyramine-free diet was developed for these patients and adherence to this diet was found to greatly reduce the incidence of these hypertensive crises. Click here to learn more

2010: Limiting protein intake in FD patients to the levels recommended by the Food and Nutrition Board, Institute of Medicine, National Academy of Sciences, reduces the number of hypertensive crises. For many with FD, the adherence to the tyramine-free diet and the limiting of the ingesting of protein to the daily recommended amounts has completely eliminated the occurrence of hypertensive crises. Click here to learn more



2012: Isoflavones found in soy, including genistein and daidzein, correct the aberrant splicing of the IKAP RNA in FD-derived and neuronal cells and mediate an increase in the level of the IKAP protein. Treatment of FD-derived cells with the combination of genistein and EGCG raises the levels of the IKAP protein to that observed in normal cells. Click here to learn more



2012: In a collaboration between the Fordham lab and a group at The Children’s Hospital of Philadelphia, a child with FD taking tocotrienols and EGCG-containing green tea extract (GTE) underwent a surgical procedure. While surgery and anesthesia in FD patients have in the past resulted in life-threatening autonomic instability and sometimes death, this FD patient, who was maintained on her regular doses of tocotrienols and GTE, exhibited no such autonomic instability. This publication represents the first report of the critical need for uninterrupted administration of these compounds in an FD patient who is scheduled to undergo a surgical procedure. Click here to learn more



2013: The ingestion of olive leaf extract alters the population of the microorganisms residing in the colon and restricts the growth of the tyramine-producing bacteria. Daily ingestion of olive leaf extract reduces the incidence of hypertensive crises in individuals with FD. Click here to learn more



2016: A specific probiotic replaces tyramine-containing bacteria in the gut, helping to reduce morning nausea and vomiting.  Click here to learn more.