Description: Molecular pathology is the study of disease at the molecular level, involving the investigation of the biological mechanisms underlying diseases through the analysis of molecules such as DNA, RNA, and proteins. This approach allows for an understanding of how alterations in these molecules can lead to cellular dysfunction and ultimately disease. Molecular pathology combines techniques from molecular biology, genetics, and biochemistry to identify biomarkers, understand disease progression, and develop targeted therapies. Its relevance lies in the ability to provide more accurate diagnoses and personalized treatments, significantly improving clinical outcomes. Additionally, molecular pathology plays a crucial role in researching new therapies and understanding complex diseases such as cancer, neurodegenerative diseases, and genetic disorders. By integrating molecular data with clinical information, a new horizon in medicine is opened, where the focus is on the patient and their unique molecular profile.
History: Molecular pathology began to take shape in the 1980s with the advancement of molecular biology techniques, such as polymerase chain reaction (PCR), which allowed for DNA amplification. As technology advanced, methods were developed to analyze gene expression and mutations in DNA, leading to a greater understanding of the molecular bases of various diseases. In the 1990s, the Human Genome Project provided a complete map of human DNA, further facilitating research in molecular pathology. Since then, it has rapidly evolved, integrating bioinformatics tools and data analysis to address complex issues in modern medicine.
Uses: Molecular pathology is used in various areas of medicine, including disease diagnosis, identification of biomarkers for prognosis, and selection of personalized treatments. It is also fundamental in cancer research, where genetic mutations are analyzed to determine the best therapy. Additionally, it is applied in drug development, allowing researchers to understand how molecules interact in the body and how they can be modified to treat specific diseases.
Examples: An example of molecular pathology is the use of genetic testing to detect mutations in the BRCA1 and BRCA2 genes, which are associated with an increased risk of breast and ovarian cancer. Another case is the analysis of genetic profiles in leukemia patients to identify specific treatments targeting mutations present in cancer cells. Additionally, the identification of biomarkers in neurodegenerative diseases, such as Alzheimer’s, allows for earlier diagnosis and more effective therapeutic approaches.
