Most human diseases are caused by functional dysregulation / dysfunction of protein interactions, and while this starts from the genetic level or through epigenetic effects, the complex biological processes and information flow within the cell and through the organism are driven through protein-protein interactions.
Through molecular medicine, the molecular mechanisms / pathology of human diseases have been studied with the aim of providing effective and safe therapeutics, and in defining patients' disease profile and prognosis. The sequencing of the human genome has created impressive opportunities to characterize diseases by their molecular fingerprint and thus using this genome-wide information to elucidate mechanistic pathways thatby preventing the development of preventive, diagnostic and therapeutic strategies, which may be done on an individual basis, Ie personalized molecular medicine.
Genetic markers in human cancers have been identified through gene expression studies. Once limited to a few genes, these studies now enable large-scale gene expression analysis of genes expressed in a tumor cell. Gene expression by DNA-microarray employs nucleic acid hybridization with complementary probes immobilized on a solid surface, thus enabling the monitoring of the expression of thousands of genes from tumor samples. While functional and comparative genomics, transcriptomics and gene lists have driven molecular medicine for years, the post-genomic era has resolved in a shift from purely genome-based approaches to proteomics. Clinical proteomics (bringing proteomics to the bedside) seek to characterize information flow through the intra- and extracellular molecular protein circuitry attributable to the interactions of organs with the circulatory system. The proteomics approach offers the advantage of identifying new biomarkers for diseases since there is increased diversity through extensive RNA splicing and posttranslational modifications, which can not be ascertained through genomic approaches alone.
The clinical proteomics branch of molecular medicine has been very important in the development of biomarkers and therapeutics in cancer. This is due to the fact that while cancer may be classified as a genetic disease based on genetic mutations that modify protein signaling pathways, functionally; It is a proteomic disease or the product of the proteomic tissue microenvironment. Proteomic patterns derived from patient samples have had a major impact on the diagnosis, monitoring and patient stratification in several malignancies with the hope that the integration of genomic, proteomic and pharmacogenomic information will redefine disease profiling and therapy.
The vast array of molecular techniques available will enable genomic and proteomic profiling of patients with the aim of finding / developing biomarkers / biosensors for diagnosis, prognosis, drug responsiveness, therapeutics for new diseases. These molecular techniques that are at the fore front of molecular medicine will translate into bedside realities and provide tools for patient disease profiling and patient-tailor effective therapies.