Disease advocacy organizations catalyze translational research

Frontiers in Genetics

Volumn 4, Issue JUN, 2013, Pages

  Terry, Sharon F ^a,b  

^a GENETIC ALLIANCE   (United States)

^b PXE International   (United States)

Author keywords

ABCC6; Advocacy; Open access; PXE; Rare diseases

Indexed keywords

EID: 84883511878     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2013.00101     Document Type: Article

References (24)

1. Baxter, K., Horn, E., Gal-Edd, N., Zonno, K., O'Leary, J., Terry, P. F., et al. (2013). An end to the myth: there is no drug development pipeline. Sci. Transl. Med. 5, 171cm1. doi: 10.1126/scitranslmed.3003505
2. Bergen, A. A., Plomp, A. S., Schuurman, E. J., Terry, S., Breuning, M., Dauwerse, H., et al. (2000). Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat. Genet. 25, 228-231. doi: 10.1038/76109
3. Christiano, A. M., Lebwohl, M. G., Boyd, C. D., and Uitto, J. (1992). Workshop on pseudoxanthoma elasticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania, June 10, 1992. J. Invest. Dermatol. 99, 660-663. doi: 10.1111/1523-1747.ep12668156
4. Christiano, A. M., and Uitto, J. (1994). Molecular pathology of the elastic fibers. J. Invest. Dermatol. 103, 53S-57S. doi: 10.1038/jid.1994.10
5. Contri, M. B., Boraldi, F., Taparelli, F., De Paepe, A., and Ronchetti, I. P. (1996). Matrix proteins with high affinity for calcium ions are associated with mineralization within the elastic fibers of pseudoxanthoma elasticum dermis. Am. J. Pathol. 148, 569-577.
6. Dressler, L. G., and Terry, S. F. (2009). How will GINA influence participation in pharmacogenomics research and clinical testing? Clin. Pharmacol. Ther. 86, 472-475. doi: 10.1038/clpt.2009.146.
7. Godfrey, M., Cisler, J., Geerts, M. L., Christiano, A., Uitto, J., De Bie, S., et al. (1995). Fibrillin immunofluorescence in pseudoxanthoma elasticum. J. Am. Acad. Dermatol. 32, 589-594. doi: 10.1016/0190-9622(95)90342-9
8. Landy, D. C., Brinich, M. A., Colten, M. E., Horn, E. J., Terry, S. F., and Sharp, R. R. (2012). How disease advocacy organizations participate in clinical research: a survey of genetic organizations. Genet. Med. 14, 223-228. doi: 10.1038/gim.0b013e3182310ba0
9. Lebwohl, M., Neldner, K., Pope, F. M., De Paepe, A., Christiano, A. M., Boyd, C. D., et al. (1994). Classification of pseudoxanthoma elasticum: report of a consensus conference. J. Am. Acad. Dermatol. 30, 103-107. doi: 10.1016/S0190-9622(08)81894-4
10. Le Saux, O., Urban, Z., Tschuch, C., Csiszar, K., Bacchelli, B., Quaglino, D., et al. (2000). Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat. Genet. 25, 223-227. doi: 10.1038/76102
11. Meadows, D. H. (2008). Thinking in Systems - A primer. White River Junction, VT: Chelsea Green Publishing Company.
12. Neldner, K. H. (1988). Pseudoxanthoma elasticum. Int. J. Dermatol. 27, 98-100. doi: 10.1111/j.1365-4362.1988.tb01280.x
13. O'Leary, J., Edelson, V., Gardner, N., Gepp, A., Kyler, P., Moore, P., et al. (2011). Community-centered family health history: a customized approach to increased health communication and awareness. Prog. Community Health Partnersh. 5, 113-122. doi: 10.1353/cpr.2011.0016
14. Pope, F. M. (1975). Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum. Br. J. Dermatol. 92, 493-509. doi: 10.1111/j.1365-2133.1975.tb03117.x
15. Ringpfeil, F., Lebwohl, M. G., Christiano, A. M., and Uitto, J. (2000). Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc. Natl. Acad. Sci. U.S.A. 97, 6001-6006.
16. Terry, S. F. (2008). Genetic Alliance BioBank [online]. Washington, DC: Genetic Alliance. Available at: http://www.biobank.org [accessed December 20, 2008].
17. Terry, S. F. (2009). Genetic information nondiscrimination act insurance protections issued. Genet. Test. Mol. Biomarkers 13, 709-710. doi: 10.1089/gtmb.2009.1507
18. Terry, S. F. (2010). Accelerate medical breakthroughs by ending disease earmarks. Nat. Rev. Genet. 11, 310-311. doi: 10.1038/nrg2782
19. Terry, S. F., and Boyd, C. D. (2001). Researching the biology of PXE: partnering in the process. Am. J. Med. Genet. 106, 177-184. doi: 10.1002/ajmg.10014
20. Terry, S. F., Shelton, R., Biggers, G., Baker, D., and Edwards, K. (2013). The haystack is made of needles. Genet. Test. Mol. Biomarkers 17, 175-177. doi: 10.1089/gtmb.2012.1542
21. Terry, S. F., Terry, P. F., Rauen, K. A., Uitto, J., and Bercovitch, L. G. (2007). Advocacy groups as research organizations: the PXE International example. Nat. Rev. Genet. 8, 157-164. doi: 10.1038/nrg1991
22. van Soest, S., Swart, J., Tijmes, N., Sandkuijl, L. A., Rommers, J., and Bergen, A. A. (1997). A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. Genome Res. 7, 830-834. doi: 10.1101/gr.7.8.830
23. Viljoen, D. (1988). Pseudoxanthoma elasticum (Gronblad-Strandberg syndrome). J. Med. Genet. 25, 488-490. doi: 10.1136/jmg.25.7.488
24. Weiss, J. O. (2004). History of Advocacy Organizations and Genetic Alliance [online]. Washington, DC: Genetic Alliance. Available at: http://wikiadvocacy.org/index.php/History_of_Advocacy_Organizations_and_Genetic_Alliance [accessed December 22, 2008].