From Chemical to Genetic Individuality Evolving Concepts and Therapeutic Approaches
Keywords:Archibald E. Garrod, Individuality , Single nucleotide polymorphisms (SNPs), Genome wide association studies (GWAS), Personalized medicine
AbstractAt the beginning of 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 Garrod’s 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. The paper will track 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.