Post Genomics: towards a Personalized Approach to Chromosome Abnormalities

Regardless of organizational and attitudinal difficulties, the application of post genomic technologies in personalized medicine provides a solid basis for individual molecular diagnosis and therapy with potential therapeutic benefits for genetic counseling. Generally, these opportunities are found considerable for complex and singlegene diseases. However, probably due to the multilateral impact of chromosome abnormalities in the genomic context, post genomic technologies have been rarely used to address chromosomal syndromes and related cases. On the other hand, high-resolution genome-wide analysis of chromosome abnormalities demonstrates the possibilities of empirical and bio informatic post genomic technologies to represent a basis for increasing the efficiency of the diagnosis and management. Nevertheless, there is still no consensus on the way these developments can be used in genetic counseling.

Chromosome Abnormalities
Chromosome Abnormalities

Recently, a combination of molecular cytogenetic techniques with post genomic bio informatic analyses has been shown as an effective way to genotype-phenotype correlations, elucidating disease mechanisms, and potential development of personalized molecular therapy in patients with chromosome abnormalities. Moreover, similar approaches to chromosome aberrations based on in silico epigenomic, interactomic and meta bolomic analyses of molecular cytogenetic data allow developing a therapeutic strategy through proposing the pathogenic mechanism. As a result, normalization of metabolic processes produced by chromosome abnormalities was proposed to be a way for treatments in at least a small proportion of cases of these presumably incurable genetic conditions.

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