Genetic Alliance Registry and BioBank: A novel disease advocacy-driven research solution

Personalized Medicine

Volumn 8, Issue 2, 2011, Pages 207-213

  Terry, Sharon F ^a,b   Horn, Elizabeth J ^a   Scott, Joan ^c,d   Terry, Patrick F ^b,c,e  

^a GENETIC ALLIANCE   (United States)

^b PXE International   (United States)

^c Genetic Alliance Registry and BioBank   (United States)

^d National Coalition for Health Professional Education in Genetics   (United States)

^e Scientia Advisors   (United States)

Author keywords

biobank; biorepository disease advocacy organization registryn translational research

Indexed keywords

ARTICLE; DISEASE REGISTRY; HEALTH CARE FACILITY; MEDICAL RESEARCH; ORGANIZATION; PRIORITY JOURNAL; SAMPLE;

EID: 79952606090     PISSN: 17410541     EISSN: 1744828X     Source Type: Journal    
DOI: 10.2217/pme.11.1     Document Type: Article

References (8)

1. Pitt KE, Cambell LD, Skubitx APN, Somiari SB, Sexton KC, Pugh RS: 2008 best practices for repositories: collection, storage, retrieval and distribution of biological materials for research. Cell Preserv. Technol. 6(1), 5-58 (2008).
2. Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG: Advocacy groups as research organizations: the PXE International example. Nat. Rev. Genet. 8(2), 157-164 (2007). (Pubitemid 46122844)
3. Terry SF, Boyd CD: Researching the biology of PXE: partnering in the process. Am. J. Med. Genet. 106(3), 177-184 (2001). (Pubitemid 32983384)
4. Le Saux O, Urban Z, Tschuch C et al.: Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat. Genet. 25(2), 223-227 (2000). (Pubitemid 30394998)
5. Pfendner EG, Vanakker OM, Terry SF et al.: Mutation detection in the ABCC6 gene and genotype-phenotype ana lysis in a large international case series affected by pseudoxanthoma elasticum. J. Med. Genet. 44(10), 621-628 (2007). (Pubitemid 47584754)
6. Rodriguez-Viciana P, Tetsu O, Tidyman WE et al.: Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311(5765), 1287-1290 (2006). (Pubitemid 43334718)
7. Shi Y, Terry SF, Terry PF, Bercovitch LG, Gerard GF: Development of a rapid, reliable genetic test for pseudoxanthoma elasticum. J. Mol. Diagn. 9(1), 105-112 (2007). (Pubitemid 47322021)
8. Horn EJ, Bialick JF, Terry SF: Landscape analysis of registries and biobanks: a tool for disease advocacy organizations to enhance translational research systems. Biopreserv. Biobank 8(2), 115-117 (2010).