Genetic Disorders Essay Sample

Gregor Mendel was an Austrian monk who experimented with pea plants and discovered the basic principles of heredity. Gregor Mendel's discoveries still help us today in understanding complex diseases and having a better understanding of Mendelian diseases. To fully understand Mendelian and other complex diseases, scientists must turn to Gregor Mendel’s pea plant experiments and DNA studies. 

Gregor Mendel is known for his famous experiments on pea plants. His discoveries developed three principles of inheritance, which are the law of dominance, the law of segregation, and the law of independent assortment. The law of dominance is when two alleles of an inherited pair are heterozygous and the dominant allele will be expressed, the allele that is not will be known as the recessive allele. The law of segregation in the gamete is being developed, and each gene will be segregated in a way that the gamete will only have one allele of the gene. The law of independent assortment describes how the different genes separate when reproductive cells develop. A frequently asked question while discussing this topic is, what are Mendelian disorders? Mendelian disorders are when specific mutations occur in certain genes. These are known as germlike mutations. Germ-like mutations are usually inherited from one or both parents. Examples of Mendelian diseases include cystic fibrosis, sickle cell anemia, and muscular dystrophy. 

Gregor Mendel’s discoveries help us understand Mendelian disorders because if he never performed his pea plant experiments, scientists would not have done research on diseases such as cystic fibrosis and how it is caused or how to diagnose. Cystic fibrosis is a recessive genetic disorder caused by mutations in the CTRF gene which is known as the cystic fibrosis trans membrane conductance regulator. “Cystic fibrosis (CF) is a common, inherited, single-gene disorder mainly found in Caucasians. People with CF produce abnormally thick and sticky mucus that can damage body organs.” (URCM health encyclopedia) Cystic fibrosis patients often need multiple organ transplants because of the heavy mucus their lungs produce. Cystic fibrosis is an example of Gregor Mendel’s second law because it is a single-gene disorder. Without Gregor Mendel’s discoveries, scientists would not give a genuine understanding of what cystic fibrosis is. For example, mutations in genes other than CTFR help explain why cystic fibrosis patients suffer more than others. If Gregor Mendel never conducted his pea plant experiment, scientists would have never known about different CF genes. Another example of how Gregor Mendel’s discoveries help scientists have a better understanding of what Mendelian diseases are, is sickle cell anemia. Sickle Cell anemia is a Mendelian disease. It is a hereditary form of anemia that distorts the red blood cells into crescent shapes at low oxygen levels. This leaves a shortage of healthy red blood cells in your body, which gives patients symptoms such as pain and fatigue. “Sickle cell disease (SCD) is a classic example of a disorder with recessive Mendelian inheritance, in which each parent contributes one mutant allele to an affected offspring.” (Swensen1) Sickle cell anemia is an example of Mendelian’s second law, which is the law of segregation. When Mendel conducted his pea plant experiment, he crossed two heterozygous plants, and he discovered that the traits of each plant’s offspring did not match the parental traits. Therefore, he discovered the law of segregation. Because sickle cell anemia is a disorder where one parent would contribute one allele, this is an example of the law of segregation because the traits will not always match the parental traits causing diseases like sickle cell anemia. Gregor Mendel’s discoveries help scientists understand diseases such as cystic fibrosis, sickle cell anemia, and other Mendelian disorders because scientists have a better understanding of what types of genetic patterns cause different Mendelian diseases, and they might lead to possible cures in the future.

When it comes to understanding complex diseases, it is very important to understand genetics and the study of Mendelian disorders. By studying Mendelian disorders, scientists must have a better understanding of Gregor Mendel’s pea plant experiments and how he found different DNA examples with a single experiment which now helps scientists complete more research on complex diseases. For example, if scientists were studying diseases such as Mendelian diseases such as muscular dystrophy, scientists would be able to tell it falls under Gregor Mendel’s second law, which is the law of segregation. “DMD is caused by genetic changes (DNA variants) in the DMD gene. DMD is inherited in an X-linked recessive pattern and may occur in people who do not have a family history of DMD.” (NIH1) Gregor Mendel's pea plant experiment helps scientists have a better understanding of muscular dystrophy because if it were not for his experiments scientists would not be able to treat or diagnose the disease. Muscular dystrophy develops from inheriting a faulty gene from both parents, or only one parent. Muscular dystrophy is clinically heterogeneous and is a rare muscular disease that causes weakness and breakdowns of the skeletal muscle over a short period. By studying complex diseases such as muscular dystrophy, scientists can expand their knowledge on rare types of diseases. If scientists did not have Gregor Mendel’s studies, they would not have much understanding of complex diseases like they do today.

To fully understand Mendelian diseases, scientists must have a better understanding of what Gregor Mendel’s pea plant experiments were and how he found different DNA examples with a single experiment which now helps scientists complete more research on complex diseases. To fully understand Mendelian and other complex diseases, scientists must turn to Gregor Mendel’s pea plant experiments and DNA studies. If it were not for Gregor Mendel, we would not be as advanced in scientific discoveries as we are today. Scientists would not know much about the complex disease, and they would not be close to finding a cure for Mendelian diseases.