Genetic Modification On The Disease Of Oral Cavity
TL;DR
With the diminishing costs of exome and whole-genome sequencing over the past 2 decades, genetic diagnosis has become increasingly feasible, even for conditions that were not previously recognized as genetic diseases.
Abstract
Subtle changes to the genetic code can result in profoundly debilitating and diverse pathologies. The hereditary nature of human traits has been described since classical times. In the history of modern medicine, the first known genetic disorder, alkaptonuria, was described at the turn of the twentieth century, giving rise to the recognition of inborn errors of metabolism[1]. Diseases with their basis in mutations and alterations of the human genetic code represent a massive burden, and recognized genetic disorders affect more than 5% of live births and more than two-thirds of miscarriages[2].Beyond highly penetrant monogenic disorders and large-scale chromosomal alterations, the heritability of many common diseases has long suggested a genetic basis for more prevalent disorders such as cardiovascular disease [3].The prospect of passing genetic afflictions on to the next generation adds to the fear of these disorders. The first heritable alteration in a protein linked to disease was identified in sickle cell anemia in the late 1940s, with the discovery of altered shifts during electrophoresis, a change that corresponded with disease status among tested patients [5]. Subsequently, once the DNA code for amino acids was deciphered, scientists recognized the potential for alterations in DNA to cause alterations in enzymes and thus disease. Prior to the advent of DNA sequencing, the cause of Down syndrome, identified in 1959 as the chromosomal abnormality trisomy 21, was the first human genetic alteration found to be associated with disease . Beginning in the 1960s, hereditary metabolic disorders such as phenylketonuria could be screened for biochemically without the need to know the causative gene’s location or sequence[5]. The advent of Sanger sequencing and recombinant molecular biology in the 1970s and 1980s made the determination of DNA sequences widely accessible for the first time. The following decades, prior to the completion of the Human Genome Project in 2003, saw gene mapping consortia undergo herculean efforts to discover the causative genes in some of the most debilitating diseases, including the first mapped human genetic disorder, Huntington’s disease, in 1983 . With the diminishing costs of exome and whole-genome sequencing over the past 2 decades, genetic diagnosis has become increasingly feasible, even for conditions that were not previously recognized as genetic diseases[6].