Gene Discovery

2001 – FD Gene Discovery
Familial dysautonomia is caused by mutations of the IKAP gene (PDF)

2001 – Mouse IKBKAP Gene Discovery
Genomic organization and chromosomal localization of the mouse IKBKAP gene (PDF)

Treatments

2003 -Tocotrienol Discovery Paper
Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia (PDF)

2003 – EGCG Discovery
EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia (PDF)

2005 – Tocotrienols & MAO
Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia (PDF)

2008 – Tocotrienols in Patients
Can the Therapeutic Efficacy of Tocotrienols in Neurodegenerative Familial Dysautonomia Patients Be Measured Clinically? (PDF)

2012 – Genistein & EGCG as a Combined Treatment
Nutraceutical-mediated restoration of wild-type levels of IKBKAP-encoded IKAP protein in familial dysautonomia-derived cells (PDF)

2012 – Perioperative Administration of Tocotrienols and Green Tea
Case Scenario: Perioperative Administration of Tocotrienols and Green Tea Extract in a Child with Familial Dysautonomia (PDF)

General Publications and Articles

2003 – Hereditary Dysautonomias, NIH Conference
Hereditary dysautonomias: current knowledge and collaborations for the future (PDF)

2007 – Molecular Basis of FD
The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies (PDF)

2008 – Mishpacha Article
The mentsch behind the microscope: Dr. Berish Rubin and his mission (PDF)