What is DNA?
Deoxyribonucleic acid (DNA) is a molecule that carries genetic information necessary for the development and functioning of an organism.
DNA consists of two linked strands that wind around each other, forming a twisted ladder-like structure known as a double helix.
It encodes biological information, such as instructions for building protein or RNA molecules, and essentially makes us who we are.
Where is DNA located?
Almost all cells in the human body contain DNA in the nucleus. The exceptions are red blood cells and platelets, which do not have a nucleus.
Mitochondria — the “power stations” of the cell — also contain DNA. Mitochondrial DNA is usually inherited only from the mother.
What happens when errors are found in DNA?
Errors or damage in DNA can lead to health problems. However, DNA has built-in mechanisms for error checking during replication, so many changes that occur throughout life go unnoticed and are repaired in time.
If changes occur in germ cells, they may lead to genetic diseases and can be passed on to offspring.
If DNA changes occur in other (non-reproductive) cells and are not repaired, they may contribute to the development of tumor processes.
What types of genetic tests exist and who needs them?
Genetic tests of interest include ancestry tests, which help determine paternal or maternal lineage, as well as health passport tests.
If there is suspicion of a genetic disorder, or if diagnosis and treatment selection are needed, these are considered clinical or medical genetic tests. They are prescribed by physicians depending on the medical indication.
Why did you choose to become a geneticist?
Medical genetics is one of the most fascinating specialties, in my opinion.
One can work in a laboratory, performing genetic tests using various methods, or in clinical consultation, dealing with complex yet highly interesting patient cases on a daily basis.
Genetics is one of the fastest-growing fields in medicine. Discoveries in this area constantly reshape approaches to diagnosis and treatment, and sometimes reveal the causes of previously unexplained conditions.
This continues to inspire me every day in my profession.
