About Familial Dysautonomia: Research

Familial Dysautonomia Hope currently sponsors research at the Laboratory for Familial Dysautonomia Research at Fordham University, one of two labs that identified the FD mutation in 2001.  Research towards finding a cure and improved treatment options for individuals with FD is the main goal of the Lab at Fordham University. 

Click here for more information on this important research

The following links provide information on Familial Dysautonomia from a research perspective:

OMIM entry on Familial Dysautonomia: #223900

OMIM Gene Database # 603722

   Research Bibliography:

1. Anderson SL, Qiu J, Rubin BY.  Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia. Biochem Biophys Res Commun. 2003 Jun 20;306(1):303-9.

2. Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA. Identification of the first non-Jewish mutation in Familial Dysautonomia.  Am J Med Genet 2003 May 1; 118A(4):305-8.

3. Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella JF, Slaugenhaupt SA. Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Am J Hum Genet. 2003 Mar;72(3):749-58. Epub 2003 Feb 06.
4. Holmberg C, Katz S, Lerdrup M, Herdegen T, Jaattela M, Aronheim A, Kallunki T. A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling.
   J Biol Chem. 2002 Aug 30;277(35):31918-28. Epub 2002 Jun 10.
5. Dong J, Edelmann L, Bajwa AM, Kornreich R, Desnick RJ.  Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.
   Am J Med Genet. 2002 Jul 1;110(3):253-7.
6. Slaugenhaupt SA.Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene.
   Clin Auton Res. 2002 May;12 Suppl 1:I15-9.
7. Coli R, Anderson SL, Volpi SA, Rubin BY. Genomic organization and chromosomal localization of the mouse IKBKAP gene.
   Gene. 2001 Nov 14;279(1):81-9.
8. Cuajungco MP, Leyne M, Mull J, Gill SP, Gusella JF, Slaugenhaupt SA. Cloning, characterization, and genomic structure of the mouse Ikbkap gene.
   DNA Cell Biol. 2001 Sep;20(9):579-86.
9. Gilbert F Familial dysautonomia and the expansion of the Ashkenazi Jewish carrier screening panel.
   Genet Test. 2001 Summer;5(2):83-5.
10. Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY. Familial dysautonomia is caused by mutations of the IKAP gene.
    Am J Hum Genet. 2001 Mar;68(3):753-8. Epub 2001 Jan 22.
11. Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
    Am J Hum Genet. 2001 Mar;68(3):598-605. Epub 2001 Jan 22.

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