Introduction
Genetic diseases refer to conditions that happen when a process of mutation has an impact on the genes of human beings. In addition, a genetic disorder may also occur when a person has the wrong amount of genetic material. A harmful change to genetic makeup, also referred to as a pathogenic variant, adversely affects the genes of a human being. It is relevant to note that DNA is what makes genes. DNA means deoxyribonucleic acid and comprises instructions for the proper function of the human body’s cells. Henceforth, DNA is what makes people have characteristics that make them unique. Although genetic diseases are disorders that adversely affect the mutations of human body cells, there are many examples of such ailments.
Genetic Diseases and Examples
Every human being receives half the genes from each biological parent. In such a case, there is a high probability a person may inherit gene mutations from one of the parents or both. In some cases, genes change because of the problems within the mutations that mostly happen because of DNA issues. Therefore, such a case can increase the chances of having a genetic disease. While some genetic disorders demonstrate their symptoms at birth, other conditions develop over time (Gebauer et al. 2020). Genetic diseases can be monogenic, multifactorial, and chromosomal. In the case of monogenic, it means single-gene, which is a condition caused by a mutation from one gene. Multifactorial is a condition that is a complex disorder caused when gene mutations combine and other factors. Chromosomal refers to a condition that affects the structures holding human DNA or genes within each cell chromosome. There are various examples of genetic diseases, such as Down syndrome, cancer, and sickle cell disease.
Down Syndrome
Down syndrome is a chromosomal disorder that is rampant in the United States. The disease affects the human body and the brain. In this case, those with Down syndrome experience mental and physical challenges. However, people can lead happy and entire lives despite the disease. Those individuals with Down syndrome have an extra chromosome from the time they are born. In such a case, there are changes in how the bodies and brains of such people develop (Alkuraya et al. 2020). Down syndrome is one of the most prominent genetic disorders in contemporary society. For example, there are many cases where babies are born with 23 pairs of chromosomes to make 46 in each cell. Notably, a chromosome is the cell’s structure that contains genes that make the DNA. The cause of Down syndrome is because of abnormalities that happen within the human cell. Every human cell has 23 pairs of chromosomes. The disease occurs because of changes in the way cells divide in chromosome 21. Each individual with Down syndrome has an extra amount of chromosome 21 in all or some cells.
Cancer
Cancer is one of the multifactorial disorders that adversely affect the human body. The disease has become so common in society because of its life-threatening nature. Therefore, when people learn that they have cancer, they become frightened and stressed for the better part of their lives. However, when people know that they have cancer after being diagnosed, it can empower and help them take control of their health (Payer and Burns 2019). Cancer is a general terminology for many diseases with one thing in common. All conditions happen when cancerous cells spread after multiplying. Cancer is the most common disease in the United States and has led to many deaths. However, fewer people are dying nowadays as they did two decades ago because of innovative treatments and early detection mechanisms. Cancer is a genetic disorder caused by the multiplication or mutation of genes that manage cell activity. Henceforth, they create abnormal cells that multiply rapidly after dividing, leading to the disruption of how the body of a human being works.
Sickle Cell Disease
Sickle cell disease is one of many monogenic disorders affecting humans. As a genetic disorder, sickle cell disease adversely affects red blood cells. In the US, the disease primarily affects Hispanics and Black Americans. However, the disease is prevalent in other ethnic groups and races and leads to many deaths. Sickle cell disease is a hereditary disorder that harms red blood cells leading to poor health (Alkuraya et al. 2020). The condition leads to abnormal hemoglobin that cannot easily pass through the human blood vessels. Therefore, the body lacks enough oxygen to transport it to all body parts. As a hereditary disease, defects cause sickle cell disease in the HBB gene. Thus, the disease always experiences an autosomal recessive pattern where the parents of a person having the disease each carry a copy of the abnormal gene. However, the parents cannot show any signs of the disorder, but they keep transferring it to their offspring.
Conclusion
In conclusion, genetic diseases are disorders that happen through mutations that occur in the human body. Genetic disorders can be monogenic, multifactorial, and chromosomal. There are various forms of genetic diseases, such as Down Syndrome, cancer, and sickle cell disease. When a harmful change to the genetic makeup happens, it leads to cell abnormalities that lead to genetic diseases or disorders. As a multifactorial disorder, cancer has continued to lead to many deaths worldwide.
Works Cited
Alkuraya, Fowzan S. “Faculty Opinions Recommendation of Evidence for 28 Genetic Disorders Discovered by Combining Healthcare and Research Data.” Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2020, Web.
Gebauer, Fátima, et al. “RNA-Binding Proteins in Human Genetic Disease.” Nature Reviews Genetics, vol. 22, no. 3, 2020, pp. 185–198., Web.
Payer, Lindsay M., and Kathleen H. Burns. “Transposable Elements in Human Genetic Disease.” Nature Reviews Genetics, vol. 20, no. 12, 2019, pp. 760–772., Web.