Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Timeline
  • Published:

Genetic disease since 1945

Nature Reviews Genetics volume 1, pages 236–241 (2000)Cite this article

Abstract

Although hereditary disease has been recognized for centuries, only recently has it become the prevailing explanation for numerous human pathologies. Before the 1970s, physicians saw genetic disease as rare and irrelevant to clinical care. But, by the 1990s, genes seemed to be critical factors in virtually all human disease. Here I explore some perspectives on how and why this happened, by looking at two genetic diseases — familial dysautonomia and phenylketonuria.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

References

  1. Rosenberg, C. & Golden, J. (eds) Framing Disease: Studies in Cultural History (Rutgers Univ. Press, New Brunswick, New Jersey, 1992).

    Book  Google Scholar 

  2. Epstein, S. Impure Science: AIDS, Activism, and the Politics of Knowledge (Berkeley, Univ. of California Press, 1996).

    Google Scholar 

  3. Aronowitz, R. Making Sense of Illness: Science, Society and Disease (Cambridge Univ. Press, Cambridge, 1998).

    Google Scholar 

  4. Jacobs Brumberg, J. Fasting Girls: The Emergence of Anorexia Nervosa as a Modern Disease (Harvard Univ. Press, Cambridge, Massachusetts, 1988).

    Google Scholar 

  5. McKusick, V. The growth and development of human genetics as a clinical discipline. Am. J. Hum. Genet. 27, 261–273 (1975).

    CAS  PubMed  PubMed Central  Google Scholar 

  6. Axelrod, F. B., Porges, R. F. & Sein, M. E. Neonatal recognition of familial dysautonomia. J. Pediatr. 110, 946–948 (1987).

    Article  CAS  Google Scholar 

  7. Riley, C. M. A short history of Familial dysautonomia. A report to the Dysautonomia Foundation 19 November (1979).

    Google Scholar 

  8. Riley, C. M., Day, R. L., Greeley, D. M. & Langford, W. S. Central autonomic dysfunction with defective lacrimation: report of five cases . Pediatrics 3, 468–481 (1949).

    CAS  PubMed  Google Scholar 

  9. The Dysautonomia treatment and Evaluation Center at NYU Medical Center, Genesis: Newsletter of the Genetics Network of the Empire State 11, (New York State Department of Health, 1980).

  10. Axelrod, F. Familial dysautonomia: Manual of Comprehensive Care (Dysautonomia Foundation, New York, 1997).

    Book  Google Scholar 

  11. Guzzetta, F., Tortorella, G., Cardia, E. & Ferriere, G. Familial dysautonomia in a non-Jewish girl. Dev. Med. Child Neurol. 28, 62–68 ( 1986).

    Article  CAS  Google Scholar 

  12. Brunt, P. W. & McKusick, V. A. Familial dysautonomia: A report of genetic and clinical studies, with a review of the literature. Medicine 49, 343–374 ( 1970).

    Article  CAS  Google Scholar 

  13. Blumenfeld, A. et al. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nature Genet. 4, 160–164 ( 1993).

    Article  CAS  Google Scholar 

  14. Yoxen, E. in The Problem of Medical Knowledge: Examining the Social Construction of Medicine (eds Wright, P. & Treacher, A.) 144–161 (Edinburgh Univ. Press, Edinburgh, 1982).

    Google Scholar 

  15. Hormuth, R. P. United States Children's Bureau, to M. Beaudet, 6 December 1965, 20–212 1963–1966, Box 1097, NN3–102, Records of the U. S. Children's Bureau, Central File, RG 102, National Archives and Records Administration, Washington, D. C.

  16. Scriver, C. R. Whatever happened to PKU? Clin. Biochem. 28, 137–144 (1995).

    Article  CAS  Google Scholar 

  17. Faden, R. R., Holtzman, N. & Chwalow, J. Parental rights, child welfare and public health: the case of PKU screening. Am. J. Public Health 72, 1396–1400 (1982).

    Article  CAS  Google Scholar 

  18. Bessman, S. & Swazey, J. in Human Aspects of Biomedical Innovation (eds Mendelsohn, E. et al.) 49–76 (Harvard Univ. Press, Cambridge, Massachusetts, 1971).

    Google Scholar 

  19. Paul, D. & Edelson, P. J. in Molecularizing Biology and Medicine: New Practices and Alliances, 1910s–1970s (eds de Chadarevian, S. & Kamminga, H.) 203–220 (Harwood Academic, Reading, 1998).

    Book  Google Scholar 

  20. Committee for the Study of Inborn Errors of Metabolism in Genetic Screening: Programs, Principles and Research 92 –93 (Natl Acad. Sci., Washington DC, 1975).

  21. Folling, A. Phenylpyruvic acid as a metabolic anomaly in connection with imbecility. Nord. Med. Tidskr. 8, 1054–1059 (1934). (A paper with the same title also appeared in the German Zeitschrift fur Physiologische Chemie 227, 169–176 (1934).)

    Google Scholar 

  22. Louis, W. & Vulliamy, D. B. Phenylketonuria with a study of the effect upon it of glutamic acid. Arch. Dis. Childh. 26, 487–494 (1951).

    Article  Google Scholar 

  23. Bickel, H. Gerrard, J. & Hickmans, E. M. Influence of phenylalanine intake on phenylketonuria . Lancet 2, 812–813 (1953).

    Article  Google Scholar 

  24. Blumenfield, A. et al. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on chromosome 9q31. Am. J. Hum. Genet. 64, 1110–1118 (1999).

    Article  Google Scholar 

  25. Porter, I. in Maxcy–Rosenau Public Health and Preventive Medicine 11th Edn (ed. Last, J. M.) 1375–1422 (Appleton-Century–Crofts, New York, 1980).

    Google Scholar 

  26. Knoppers, B. M. in New Horizons in Neonatal Screening (eds Farriaux, J. P. & Dhondt, J.-L.) 257–277 (Proc. Ninth Int. Neonatal Screening Symposium and the Second Meeting of the Int. Soc. for Neonatal Screening, Lille, France, 13–17 September 1993).

    Google Scholar 

  27. McKusick, V. The growth and development of human genetics as a clinical discipline. Am. J. Hum. Genet. 27, 261–273 (1975).

    CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. School of Arts and Sciences Department of History and Sociology of Science, Logan Hall, Suite 303, 249 South 36th Street

    M. Susan Lindee

  2. University of Pennsylvania, Philadelphia, 19104-6304, Pennsylvania, USA

    M. Susan Lindee

Authors
  1. M. Susan Lindee
    View author publications

    You can also search for this author in PubMed Google Scholar

Related links

Related links

DATABASE LINKS

FD

PKU

congenital hypothyroidism

sickle cell anaemia

galactosaemia

tyrosinaemia

cystic fibrosis

haemophilia

muscular dystrophy

cerebral palsy

cystic fibrosis

moyamoya

Bardet–Biedl

Laurence–Moon

fragile X syndrome

maple syrup urine disease

FURTHER INFORMATION

Dystonomia Foundation

FD Village

OMIM

Robert Guthrie

The history of newborn PKU screening in the United States

Genetic Alliance

American Type Culture Collection

Coriell Institute

Little People of America

Susan Lindee

Rights and permissions

Reprints and permissions

About this article

Cite this article

Lindee, M. Genetic disease since 1945. Nat Rev Genet 1, 236–241 (2000). https://doi.org/10.1038/35042097

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/35042097

This article is cited by

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing