One of the main objectives of research in precision medicine is to identify biomarkers associated with diseases and, thus, change the health trajectory of individuals through early diagnosis.
In recent decades, advances in technology have resulted in unprecedented development in scientific research and in the history of biomedical research.
Sequencing technology, for example, has helped to crack the genetic code not just of humans, but of different organisms as well.
Imaging technologies have enabled the visualisation and monitoring of cellular and molecular processes. Likewise, technologies such as mass spectrometry or Nuclear Magnetic Resonance (NMR) have allowed for increased knowledge about the functions of different biological systems, as well as molecular composition. These technological advances led to the creation of research fields, called “omics” or omics sciences.
One of the main objectives of research in precision medicine is to identify biomarkers associated with diseases and, thus, change the health trajectory of individuals through early diagnosis. In recent decades, advances in technology have resulted in unprecedented development in scientific research and in the history of biomedical research.
Sequencing technology, for example, has helped to crack the genetic code not just of humans, but of different organisms as well.
Imaging technologies have enabled the visualisation and monitoring of cellular and molecular processes. Likewise, technologies such as mass spectrometry or Nuclear Magnetic Resonance (NMR) have allowed for increased knowledge about the functions of different biological systems, as well as molecular composition. These technological advances led to the creation of research fields, called “omics” or omics sciences.
Develop technologies capable of analyzing all stages of protein production in our body, including coding, production, and regulation.
This will make it possible to know at every moment of life which genes are activated, and which are deactivated, thus allowing to modulate them, that is, to turn off the genes that are related to diseases, disorders and deficiencies and activate beneficial gene.
Genomics was the first of the omics sciences to have the technology and data available. Therefore, most efforts in precision medicine have focused on genomic studies. Genomics for human health gained prominence with the Human Genome Project.
One of the main goals of genomics is to identify genetic alterations related to traits of interest. Therefore, this information is being used to predict individual risk of developing disease and to assess whether specific treatments are appropriate and likely to be successful in individual patients.
In addition to human genome sequencing, another important field related to human health in genomics is known as metagenomics. Metagenomics, also known as environmental genomics, is the study of the diversity, taxonomy and functionality of a microbial community coexisting in an environment, through the sequencing of the total genetic material of a sample. Metagenomics is used, for example, to determine an individual’s intestinal microbiota or diagnose an infection. When metagenomics aims to characterize or study emerging viral pathologies, it is known as a virome.
The way these instructions are read can tell us in real-time what is happening to someone, how far from diseases they are, what must be done at this moment, what genes are silent or active.
Transcriptomics is the study of the transcriptome, that is, the complete set of all RNA (ribonucleic acid) molecules expressed in a cell, tissue or organism. Transcriptomics addresses all types of transcripts, including messenger RNAs (mRNAs), microRNAs (miRNAs) and different types of long non-coding RNAs (lncRNAs). In addition, the study is focused on everything that involves RNAs, transcription and expression levels, functions, locations and degradation. Disease scientific studies have used these approaches extensively to genetically profile and quantitatively analyze the transcriptome to determine how transcriptional changes may be related to disease development and progression. Data generated in transcriptome studies are used to analyze quantitative loci expression traits (eQTL) to identify functional mechanisms related to genetic sequence variation. In other words, link DNA sequence variation with changes in gene expression.
Advances in gene expression analysis led us to perform research focused on the analysis of RNA transcription products, cellular proteins. While transcriptomics quantifies the product of the genome, proteomics studies the proteome, that is, the set of proteins produced in an organism, system or biological context. Proteomics can be used for example to investigate the correlation between protein expression levels and corresponding mRNA expression levels, the involvement of proteins in metabolic pathways, rate of production and degradation and when and where they are expressed. Several studies use proteomics techniques, such as mass spectrometry, to identify biomarkers associated with cancers such as ovarian and breast. Furthermore, in personalized medicine, proteomics can also been used to predict drug sensitivity or resistance in individuals.
Metabolomics is the study of metabolomes, that is, the set of metabolites, small molecules located within cells, tissues or organisms. Collectively, these small molecules and their interactions within a biological system are known as the metabolome.
