000 03018cam a2200421Ki 4500
001 ocn959618062
003 OCoLC
005 20240726105019.0
008 160930s2016 mdu ob 001 0 eng d
040 _aNT
_beng
_erda
_epn
_cNT
_dYDX
_dEBLCP
_dNT
_dMUB
_dOCLCO
_dP@U
_dOCLCO
020 _a9781421420752
_q((electronic)l(electronic)ctronic)
050 0 4 _aRB155
_b.L544 2016
049 _aMAIN
100 1 _aHogan, Andrew J.,
_e1
245 1 0 _aLife histories of genetic disease :
_bpatterns and prevention in postwar medical genetics /
_cAndrew J. Hogan.
260 _aBaltimore :
_bJohns Hopkins University Press,
_c(c)2016.
300 _a1 online resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _adata file
_2rda
504 _a2
505 0 0 _aIntroduction : pursuing a better birth --
_tGenetics detectives --
_tChromosomal cartography --
_tThe genome's morbid anatomy --
_tSeeing with molecules --
_tInstitutionalized disorders --
_tGetting the whole picture --
_tEpilogue : the genomic gaze.
520 8 _aMedical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing today's expecting parents to choose to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In Life Histories of Genetic Disease, Andrew J. Hogan explores how various diseases were "made genetic" after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger-and increasingly "big data"-oriented-aims of biomedical research.
530 _a2
_ub
650 0 _aMedical genetics.
650 0 _aMedical genetics
_xMoral and ethical aspects.
650 0 _aGenetic disorders
_xDiagnosis.
650 2 2 _aHistory, 21st Century.
650 2 2 _aHistory, 20th Century.
650 1 2 _aGenetics, Medical
_xhistory.
650 1 2 _aGenetic Diseases, Inborn
_xprevention & control.
655 1 _aElectronic Books.
856 4 0 _uhttps://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&db=nlabk&AN=1220060&site=eds-live&custid=s3260518
_zClick to access digital title | log in using your CIU ID number and my.ciu.edu password
942 _cOB
_D
_eEB
_hRB
_m2016
_QOL
_R
_x
_8NFIC
_2LOC
994 _a92
_bNT
999 _c86058
_d86058
902 _a1
_bCynthia Snell
_c1
_dCynthia Snell