New Understanding of Diseases
Over the last decades molecular research on sick and healthy cells gave new insights in cellular signalling pathways: mechanisms involving proteins and nuclear receptors, which are essential for the normal functioning of cells but under specific circumstances may lead to diseases. These discoveries have helped us to understand and classify diseases in a new way.
We have learned a lot from rare monogenetic disorders, which allow us to study the impact of specific genetic mutations on the clinical signs and symptoms of the disease.
This research allows us to gain insight in the underlying genetic alterations and the consequences of the presence and functioning of critical proteins. The answer to the question ‘what causes diseases’ is revealing itself little by little since we are able to decipher the genetic code of a person. There is growing evidence that specific genetic mutations involving specific signalling pathways play a significant role in disease development. The scientific discipline of epigenetics stresses the influence of life style and nutrition. Understanding the role of regulating RNA will lead to new ways of therapeutic treatments.
Phenotypically similar conditions classified as the same disease may originate from different genetic polymorphisms or mutations. Similarly, diseases affecting specific organs such as various types of cancers, or certain systemic inflammatory diseases may be triggered by a single common molecular mechanism.
Biochemical, genetic, genomic and other markers identifying such mechanisms can serve as biomarkers for specific disease mechanisms and diseases. Such biomarkers can be developed into diagnostics that are able to identify the specific mechanism involved in the disease affecting a specific patient. With our growing knowledge of such mechanisms we will be able to classify diseases based on the underlying mechanisms and pathways rather than on pathophysiology, pathology and phenomenology alone.
This new disease classification will finally support the development of medicines directly targeting specific disease mechanisms present in a patient.