Genetic diseases
Is it something you are born with or something you develop?A genetic disease is caused by alterations in a person's genome, which may be variations in the DNA sequence that can be inherited from parents or arise from spontaneously occurring mutations.
In addition to these genetic factors, environmental factors also play a crucial role in the development and manifestation of these diseases. Exposure to certain chemicals, radiation, and nutritional conditions, for example, can interact with an individual's genetic predisposition and enhance the risk of developing genetic diseases or influence their severity. Likewise, lifestyle, such as smoking and physical activity, can modify gene expression and significantly affect a person's genetic health.
It is important to identify genetic changes, because depending on these alterations the manifestations and severity of symptoms can be very different.
For a genetic disease to be hereditary and transmitted from generation to generation, the DNA variation must be present in the cells responsible for reproduction, in the eggs or in the spermatozoa, so that it can be transmitted from parents to offspring. Mutations occurring in tissues, precursors of some types of cancer, are not normally present in all cells of the body and are not transmitted to offspring.
Genomic Screening
The first health checkup to include complete genome sequencing, analyzing more than 700 known genetically based diseases.
What types of genetic diseases are there?
Monogenic diseases
They arise due to a mutation in a specific gene that alters the production of the corresponding protein. This altered protein may experience a decrease in its functionality, become completely inactive or even obtain a new function that is harmful to the organism.
The impact of any point mutation is not only limited to how the protein function is modified, but also depends on the vital role this protein plays in the survival of the individual.
Examples of monogenic diseases include cystic fibrosis, Duchenne muscular dystrophy, and Huntington's disease.
Multifactorial diseases
These health disorders result from the interaction of multiple genetic and environmental factors.
The genetic variants associated with these diseases do not themselves cause the disease, but contribute to increased susceptibility. The manifestation of these conditions occurs when several genes are combined with external factors such as diet, exercise, exposure to toxic substances or ingestion of medications, which can affect genetic characteristics.
Common examples are type 2 diabetes, cancer, and heart disease.
Chromosomal diseases
These diseases can arise from alterations in the number of chromosomes or in their structure. They may involve the addition or loss of whole chromosomes (aneuploidy) or large parts of chromosomes.
Examples include Down syndrome, which is caused by an extra copy of chromosome 21, and Turner syndrome, which occurs when there is a complete or partial lack of one of the female's X chromosomes.
Mitochondrial diseases
These diseases are caused by alterations in the mitochondrial genetic material, which is exclusively maternally inherited.
They mainly affect cells with high energy demands, such as those of the heart, brain, and muscles.
Examples of mitochondrial diseases include Leigh syndrome and Leber's hereditary optic neuropathy.
Hereditary Cancer Program
Genomic Medicine allows us to analyze and perform the exact characterization of the tumor, this will determine if the patient has developed cancer due to genetic causes or other causes.
Accuracy
Accurate cancer management and knowledge of the tumor's responsiveness to specific treatments
Customization
Detect predictive biomarkers of drug response that allow personalized therapies
Follow-up
Knowing the risk of hereditary cancer allows us to establish a preventive follow-up plan
Family
Know the impact that genetic risk has on their relatives, especially first-degree relatives