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
Richardson, Sarah S.
Gil Viry
Fabrizio Rufo
Marco D. Ornelas-Cruces
Alonso-Pavón, José Antonio
Erica Torrens-Rojas
Journals
Mefisto: Rivista di medicina, filosofia, storia
Medicina nei Secoli - Arte e Scienza
Substantia: An International Journal of the History of Chemistry
Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences
Social Studies of Science
Science in Context
Publishers
Duke University Press
Trafford Publishing
Rutgers University Press
Profile Books
Pegasus Books
Donzelli
Concepts
Genetics
Genomics
DNA; RNA
Medicine
Hereditary diseases
Molecular biology
People
Crick, Francis
Watson, James Dewey
Wu, Ray
Pearson, Karl
Mendel, Gregor Johann
Galton, Francis
Time Periods
21st century
20th century
19th century
20th century, late
18th century
17th century
Places
United States
Spain
China
Mexico
Great Britain
Institutions
Human Genome Project
Royal Society of London
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