{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T04:57:35Z","timestamp":1694840255669},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,1,8]],"date-time":"2005-01-08T00:00:00Z","timestamp":1105142400000},"content-version":"vor","delay-in-days":4331,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[1993,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>A research study to identify the priori gene mutation in a family with familial Creutzfeldt\u2010Jakob disease (FCJD) evolved into presymptomatic diagnostic testing. Our experience with one case raises concerns regarding similar studies that will ensue as a result of the Human Genome Project. Technological advances in human molecular genetics make it difficult for Institutional Review Boards (IRB) to adequately evaluate proposed studies. Additionally, changes in the implications of the study may occur after initial IRB approval, due to technological progress. While FCJD, like Huntington's disease (HD), has adult onset and causes progressive dementia and ataxia, protocols established for presymptomatic testing of HD were not included in the FCJD study design. It is thus recommended that IRB committees include a genetics professional and that IRB\u2010approved research studies be reevaluated on a regular basis to monitor the impact that technological advances may have on participating human subjects<\/jats:italic>.<\/jats:p>","DOI":"10.1007\/bf00962556","type":"journal-article","created":{"date-parts":[[2005,1,7]],"date-time":"2005-01-07T17:41:08Z","timestamp":1105119668000},"page":"9-15","source":"Crossref","is-referenced-by-count":2,"title":["Research on familial Creutzfeldt\u2010Jakob disease (FCJD) resulting in presymptomatic testing: Implications for the human genome project"],"prefix":"10.1002","volume":"2","author":[{"given":"Janet E.","family":"Ulm","sequence":"first","affiliation":[{"name":"Department of Pediatrics Vanderbilt University Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cindy L.","family":"Vnencak\u2010Jones","sequence":"additional","affiliation":[{"name":"Department of Pathology and Pediatrics Vanderbilt University Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Bosque","sequence":"additional","affiliation":[{"name":"Department of Neurology Vanderbilt University Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,1,8]]},"reference":[{"key":"e_1_2_1_2_1","unstructured":"BosqueP Vnencak\u2010JonesC JohnsonM WhitlockJA(in press)A PrP gene codon 178 base substitution and a 24\u2010bp interstitial deletion in familial Creutzfeldt\u2010Jakob disease.Neurology."},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410160305"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)91518-F"},{"key":"e_1_2_1_5_1","first-page":"1351","article-title":"Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases","volume":"49","author":"Collinge J","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.161.3839.388"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)91198-4"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/104.3.535"},{"key":"e_1_2_1_9_1","volume-title":"Mendelian Inheritance in Man","author":"McKusick VA","year":"1990"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199202133260704"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)91696-R"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6801762"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1675487"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260203"},{"key":"e_1_2_1_15_1","first-page":"871","article-title":"Identification of heterogeneous PrP gene deletions in controls by detection of allele\u2010specific heteroduplexes (DASH)","volume":"50","author":"Vnencak\u2010Jones CL","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.9.1385"}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00962556","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00962556","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T11:52:46Z","timestamp":1694778766000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF00962556"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,3]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993,3]]}},"alternative-id":["10.1007\/BF00962556"],"URL":"https:\/\/doi.org\/10.1007\/bf00962556","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,3]]}}}