Gene Discovery
2001 – FD Gene Discovery
Familial dysautonomia is caused by mutations of the IKAP gene (PDF)
2001 – Mouse IKBKAP (now known as ELP1) 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)
2022 – Rosemary Discovery
Carnosol, a diterpene present in rosemary, increases ELP1 levels in familial Dysautonomia (FD) patient-derived cells and healthy adults: a possible therapy for FD (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)
2017 – FD Research Advances and Scientific Breakthroughs
IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies (PDF)