Glossario dei termini

See Genome editing.

Gene expression is a process in cells where genetic information of a gene is transformed into its functional unit, protein. During gene expression, resembling an instruction manual, the genetic information (in form of letters A, T, C, and G) from the DNA sequence of the gene is used as instructions to build a functional product, a protein. Gene expression is a crucial biological process for the function and survival of living organism, and errors in gene or its function are causes for various disease such as cancer or cystic fibrosis, a genetic disorder that affects the lungs and digestive system.

Diseases and health issues can be caused at a genetic level by underexpression (where the gene produces less of a protein than is needed for normal functioning) or overexpression (a gene produces a surplus of a protein, with harmful effects). They can also be caused by normal expression levels of a faulty gene (levels which would be correct if the person had the 'healthy' gene).

Genetic disease: also known as a genetic disorder or inherited disorder, is a medical condition caused by abnormalities or mutations in an individual's DNA or genes. These mutations can be inherited from one's parents or occur spontaneously during a person's lifetime. Genetic diseases can affect various aspects of an individual's health and development, leading to a wide range of symptoms and outcomes

Genetic engineering refers to the modification of genetic information in DNA. This allows scientists to make precise changes to genes of living organisms, such as bacteria, plants, and animals. This might be increasing or decreasing the expression levels of a gene, de-activating it completely, or introducing a new gene. Through genetic engineering, scientists can study and unlock biological information. This allows scientists to better understand certain diseases, and potentially leading to the development of new treatments. Genetic engineering also has uses outside of heathcare - for example, addressing agricultural challenges.

Genetic testing, also called genetic screening, is testing an individual's genetic background. It can be used to reveal details of individual's ancestry, or diagnose genetic diseases. It may also be used to determine whether a healthy individual is a carrier for a genetic condition.

Collecting a sample for genetic testing may involve collecting saliva or taking a blood sample. Genetic testing is carried out using different techniques from the field of molecular biology, such as DNA sequencing or karyotyping.

Organisms (except human beings) in which the genetic material has been changed by humans through genetic engineering.

Genome editing is modifying DNA and genetic information within an organism's genome. It involves adding, removing, or changing specific DNA sequences to alter the genetic characteristics of the organism.

The genotype is the entirety of an individual's genes, or genetic code, which determine their inherited traits and features.

A reference set of ethical and scientific requirements around all aspects of the clinical trials. These aspects include: designing, conducting, performing, monitoring, auditing, recording, analysing and reporting clinical trials. The purpose of these is to protect the rights, safety and well-being of the subjects during the clinical trial. It also aims to ensure that the evidence created by the study is respected and the evidence provided is reliable and robust. 

Reference set of scientific requirements for the manufacture of medicines. This covers the production, importation and control to ensure the quality and safety of medicines. 

Guide RNA (gRNA) is a short RNA sequence (designed in a lab). It guides the CRISPR-Cas9 system, or complex, to a specific site in a target cells DNA, where the nucleotide sequence of the DNA matches the sequence of the gRNA.