000 | 03018cam a2200421Ki 4500 | ||
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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 |
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020 |
_a9781421420752 _q((electronic)l(electronic)ctronic) |
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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. |
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300 | _a1 online resource. | ||
336 |
_atext _btxt _2rdacontent |
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337 |
_acomputer _bc _2rdamedia |
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338 |
_aonline resource _bcr _2rdacarrier |
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347 |
_adata file _2rda |
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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 |
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650 | 0 | _aMedical genetics. | |
650 | 0 |
_aMedical genetics _xMoral and ethical aspects. |
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650 | 0 |
_aGenetic disorders _xDiagnosis. |
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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 |
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994 |
_a92 _bNT |
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999 |
_c86058 _d86058 |
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902 |
_a1 _bCynthia Snell _c1 _dCynthia Snell |