Glossário de termos

Personalised medicine, also known as precision medicine, is an approach to healthcare that tailors medical treatment and prevention strategies to the individual characteristics of each patient. This includes factors such as genetic makeup, lifestyle, and environmental influences. By considering these unique aspects, personalised medicine aims to optimise the effectiveness of treatments, minimise side effects, and improve patient outcomes.

The phenotype refers to the observable characteristics or traits of an organism. These traits result from the interaction of its genetic makeup (genotype) with the environment. These characteristics can include physical features, such as height, eye color, and hair texture, as well as physiological traits, behavior, and disease susceptibility. The phenotype is the product of gene expression, where the genes within an organism's genome are expressed and interact with each other and the environment to produce a specific phenotype.

A plasmid is a small, often circular DNA molecule, typically found in bacteria. In gene therapy, the gene of interest is typically added into a plasmid, which is then delivered to the target cell. Several methods, such as non-viral vectors and electroporation are used to facilitate plasmid delivery.

See Personalised medicine.

Precision-Safety-Accuracy are the three main concerns when we talk about gene therapy. The ideal gene therapy solution must:

1. accurately produce the one and only planned modification
2. precisely modify the interested type of cells/tissues
3. be safe for patients

Preclinical studies (also called preclinical trials) are preliminary investigations conducted in the laboratory. These studies are typically caried out on culture cells and tissues before moving on to animal models. Preclinical trials are essential to assess the safety and effectiveness of new medicines and treatments before they are tested on humans in clinical trials.

Prime editing is a genome editing technique that combines the precision of CRISPR-Cas9 with a modified Cas9 enzyme. This modified enzyme is fused to a reverse transcriptase to make highly accurate changes to DNA, by converting a genetic instruction from RNA to DNA and inserting that genetic information at a specific and programmable location in the genome. It allows scientists to insert, delete, or replace specific DNA sequences in the genome with minimal errors, offering great potential for treating genetic diseases.