The Role of Genetics in Human Diseases

Afaq Mujeeb
3 min readJun 21, 2024

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A brief insight into the content of genes introduces genetic factors as one of the most critical links regarding knowledge, identification, and control of diseases in people. Genetics is the branch of medicine that relates to passing on and inheritance of traits and disorders across generations, and genetics has provided useful information on prenatal and congenital diseases, diseases caused by a single gene, polygenetic diseases, and constitutional diseases.

Inherited Genetic Disorders

Consequently, certain diseases are formed from changing specific genes in the body. Many diseases are learned to have been brought about by changes of specific genes in the body. These are referred to as inherited genetic disorders and may include cystic fibrosis, sickle cell disease, and Huntington’s disease. Such diseases are ‘‘Mendelian,’’ that is, within the context of a single gene position, a gene can be responsible for a disease, which can be inherited in a dominant, recessive manner or based on sex linkage. For example, cystic fibrosis is linked to dreadful mutations in the CFTR gene and is an autosomal recessive ailment, which indicates that one requires inheriting two poor copies of genes: one from the father and one from the mother to get sick.

Microsystems and Heritable Conditions

Therefore, Some genetic factors affecting disease could be more straightforward. The majority of those processes that could be conventionally classified as mundane diseases, cardiovascular diseases, diabetes mellitus, and most forms of cancer are polygenic, and their onset depends on both genetic and environmental factors. Such diseases are commonly known as complex or multifactorial diseases. For instance, Type 2 diabetes has been established to have genetic factors pushing changes in several genes involved in insulin production and glucose metabolism; nonetheless, establishing the exact risk level cannot negate the part played by external factors such as diet and exercise. The latest GWAS supports that more than one hundred of these genetic factors are shared by many of these complex diseases and make one more vulnerable to developing them. They may still possess these genetic variations that lead to higher odds of the development of such diseases, though this does not always mean that the said person will develop the disease, which lies in the nature and tendencies of the given person, as well as the conditions prevailing in the surrounding environment.

Cancer and Genetic Mutations

One good example of genetics that causes disease is cancer because it is a single gene that causes the disease. They also originate from inherited modification of the body’s map, which allows the construction of new blood vessels and unsupervised cell division. These mutations can be inherited, as in the case of the BRCA 1 and 2 genes, which have been seen to cause a predisposition to some types of cancers, including breast and ovarian cancers in women, or can be induced at some point in life of a given individual through exposure to carcinogens such as cigarette smoking or ultraviolet light among others. Of course, such knowledge has led to designing drugs that can alter the molecular activity of cancers in light of identifying the cause of the observed genetic mutations that turn these diseases into malignant organisms.

Basix Approach: Management of adrenal crisis and Genecis

Genetic insight has established a view of new specific cures and remedies for a particular person. Another advantage of genetic profiling is that it tests for genes that make one contract such diseases, and other precautionary measures that may be taken to reduce the impacts of the disease can also be undertaken. For example, women who have a family history of breast cancer can use genetic tests to ascertain whether they are BRCA gene carriers and any associated risk factors in order to determine whether they require additional precaution in the form of regular self-examination and or mastectomy.

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