Genetics and inherited pathologies.
What is a genetic disorder?
A genetic disorder is a disease caused by a change or mutation in a person's DNA.
Scientists are studying genetic pathologies with great interest, finding new variations in the genes involved in the development of various diseases, and therefore looking for methods to manage the disorder.
As you know, humans inherit half of their genes from their biological parents - a mutated gene is inherited from one parent or both.
The course of diseases is also individual, for example, some pathologies are manifested symptomatically at birth, while some appear over time.
It should be noted that some diseases that are observed in the birth of an infant are not hereditary, yes, they can have a genetic predisposition, as well as formed by environmental risk factors (medication, various infections, etc.).
Unfortunately, some congenital anomalies are of unknown etiology, i.e. the underlying cause cannot be determined.
Major groups
It is quite possible for a mutation to occur at the level of a chromosome, not a gene (a process known as a chromosomal mutation).
Hereditary diseases are divided into the following groups: chromosomal, complex (multifactorial), monogenic.
Genetic predisposition
As you know, there are a number of diseases to which a person is genetically predisposed. In this case, the "hidden", mutated, altered gene in the body is waiting for the desired environment - as soon as the mechanism (environmental factors) contributing to the formation of pathology is activated, unfortunately, the disease develops.
Most genetic pathologies are not completely cured, although in some clinical cases certain methods can slow the progression of the disease, prevent any possible complications, and improve quality of life.
Genetic analysis
Modern medicine offers genetic testing to individuals with a family history.
The purpose of genetic testing is to determine if a person at risk (a person whose family members or relatives often have a specific disease) is a carrier of the abnormal gene.
Genetic analysis can identify a curable mutation, timely diagnose a pathological process that can be managed at an early stage or complete cure.
With the help of this laboratory test, the doctor may select a preventive course, with appropriate methods to minimize the risk of developing the disease.
Source:
https://my.clevelandclinic.org/health/diseases/21751-genetic-disorders
