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Genetic disease since 1945

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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.

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Related links

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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

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

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