Article ID: CBB900408942

From Chemical to Genetic Individuality. Evolving Concepts and Therapeutic Approaches (2017)

unapi

At the beginning of the XX century, the British physician Archibald Garrod put forward seminal aspects of medical genetics and Mendelian transmission of a few human metabolic diseases, highlighting the close relation between heredity and abnormal conditions for the first time. After the mid-1950s, advances in biochemistry, genetics and, then, functional genomics have eventually shown that Garrods' pioneering concept of chemical individuality, which is expressed through protein variants, is still topical. As from 2002, the mapping of single nucleotide of polymorphisms (SNPs) changes of single letters in DNA sequence common in human population - provided one of the main sources of genetic variations, relevant for complex traits. This paper tracks the evolution of the concept of individuality, from the Garrodian to the current post-genomic perspective, exemplified by specific definitions. Further, it will be shown that such evolution has been paralleled by a shift of focus in medical thought: from a reactive to an always more preventive and personalized oriented therapeutic approaches.

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Authors & Contributors
García-Sancho, Miguel
Richardson, Sarah S.
Barahona, Ana Echeverría
Capocci, Mauro
Chow-White, Peter A.
Cobb, Matthew
Journals
Mefisto: Rivista di medicina, filosofia, storia
Medicina nei Secoli - Arte e Scienza
Social Studies of Science
Archives Internationales d'Histoire des Sciences
Historical Studies in the Natural Sciences
Journal of the History of Biology
Publishers
Duke University Press
MIT Press
Profile Books
Rutgers University Press
Trafford Publishing
Concepts
Genetics
Genomics
Medicine
DNA; RNA
Hereditary diseases
Molecular biology
People
Bateson, William
Darwin, Charles Robert
Fiers, Walter
Galton, Francis
Mendel, Gregor Johann
Pearson, Karl
Time Periods
21st century
20th century
20th century, late
19th century
17th century
18th century
Places
United States
Great Britain
Mexico
Australia
Belgium
Institutions
Human Genome Project
Royal Society of London
Ghent University
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