Genes and Inherited Diseases

genes & inherited disease

Gene is defined as a sequence which is made up of nucleotides and is further present within RNA and DNA, which is used to code for functions of a molecule. This can seem quite complex for a beginner or somebody who does not have a lot of knowledge in this field. Hence, if one sets out to define genes in some rather simpler terms then it can be said that genes are the genetic material which is responsible for the passing of traits from the parent to the offspring and are present inside the DNA or the RNA. This concept has a rather interesting history too which will be discussed in this article later. However, at this point, it is also important for the readers to note that there are many diseases which can be inherited by the offspring from his or her parent. And these diseases are known as inherited diseases. In this academic writing piece, readers will be able to find the answer to the question of ‘what is a gene?’ They will also be able to learn about genetic testing. There were further be an in-depth discussion on different inherited diseases like cystic fibrosis, Parkinson’s disease, Down syndrome, Huntington’s disease syndromes, Williams syndrome, autoimmune disease, and Marfan syndrome.

What is a Gene?
In this section, the readers will be able to find the answer to the question of what is a gene. As it was mentioned above, a gene can be defined as the genetic material which is present inside DNA and RNA. This genetic material plays an important role when it comes to the task of transfer of various characteristics from the parent to the offspring. In more technical terms, genes can be defined as the sequence of nucleotides which perform the function of coding the properties of a molecule which has any specific task to perform. This sequence of nucleotide is present within DNA or RNA. When genes make different types of DNA sequences then that is known as genotype. It is important for the readers to remember that these genotypes along with different developmental and environmental factors determine the phenotypes of an organism. This means that these factors will be able to determine different features of an organism like his or her height, eye color, hair color, skin color, number of limbs, and other characteristics which might or might not be visible to the naked eye. Genes were first discovered in 1869 but its functions were not known until sometime during the early 1900s. The structure of DNA was also successfully explained by Watson and Crick in 1953. In the next section, the readers will be able to learn about genetic testing and some inherited diseases.

Introduction to Genetic Testing and Inherited Diseases

Genetic Testing is also known as DNA testing and it can be defined as a type of medical test which allows a medical professional to identify all sorts of changes which might take place in the chromosomes, proteins, or the genes of an organism. Genetic testing is often run to rule out suspicion or to confirm any genetic condition which might be inherited by an organism through his or her parents. Genetic testing can also be used by medical professionals to determine the kind of chances an individual has of passing or not acquiring any genetic disease which his or her parents might have. On the other hand, inherited diseases are those diseases which can be transferred from the parent to the offspring through the genetic material. There are many types of inherited diseases. And some of those inherited diseases will be discussed in the article. The life of those inherited diseases is mentioned below.

  1. Cystic Fibrosis

Cystic fibrosis is an inherited disease which causes a lot of damage to the digestive system, lungs, and other major organs of the body. Cystic fibrosis affects all cells which are known to produce sweat, digestive juices, and mucus. Some common symptoms of cystic fibrosis include breathlessness, persistent cough; severe constipation, poor growth, and intestinal blockage. There can be many complications caused due to cystic fibrosis hence, appropriate medical attention should be sought.

  1. Parkinson’s Disease

Parkinson’s disease affects the movement of an individual as it is a progressive nervous system disease. The symptoms of Parkinson’s disease gradually increase in their severity over time. Some of the common symptoms of Parkinson’s disease include rigid muscles, tremors, changes in speech, writing changes, the decreased capability of automatic movements, slowed movements, and other symptoms. If an individual is suffering from Parkinson’s disease then he or she must get appropriate medical attention.

  1. Down Syndrome

Down syndrome is caused due to an extra complete or partial copy of chromosome 21. In the case of Down syndrome, this can be caused due to an abnormal cell division process. Down syndrome can differ in terms of its severity from one individual to another. Some of the common symptoms of Down syndrome are a small head, short neck, flattened face, excessive flexibility, short height, poor muscle tone, small ears, and other symptoms. Developmental and intellectual problems in an individual suffering from Down syndrome can range from being mild to severe. Infants who are suffering from Down syndrome are usually of average size.

  1. Huntington’s Disease

Huntington’s disease syndrome results in the progressive breakdown of the nerve cells in the brain of an individual. Huntington’s disease syndrome can have a very strong effect on the functional abilities of an individual. Some of the common symptoms of this disease include muscle problems, impaired balance, and difficulty focusing on tasks, difficulty in learning new information, social withdrawal, insomnia, and other symptoms.

  1. Williams Syndrome

Williams syndrome results in an individual suffering from mild to moderate intellectual disability, problems in learning, distinct facial features, unique personality traits, and cardiovascular issues. Williams syndrome is a rather common genetic disorder. And some of the common symptoms of Williams syndrome include short nose with a tip, full cheeks, broad forehead, shortness of breath, and developmental delays. Individuals who are suffering from Williams syndrome also have rather short stature.

  1. Autoimmune Disease

Autoimmune disease is a condition which results when the immune system responds abnormally to a body part. According to experts, autoimmune disease can also be of different types. Some of the common symptoms of autoimmune disease include altered functions of organs, altered growth of organs, and damaged tissues. The causes of an autoimmune disease can be very varied.

  1. Marfan Disease

Marfan disease affects the connective tissue of an individual. Marfan disease usually has an effect on the heart, blood vessels, eyes, and skeleton of an individual. Some common symptoms of Marfan disease include flat feet, heart murmurs, abnormally curved spine, slender build, crowded teeth, and extreme nearsightedness. There can be many complications of Marfan disease hence; one should seek appropriate medical attention.

The Conclusion:

Genes can be defined as the genetic material which is responsible for transferring various characteristics from the parents to the offspring. There are many genetic disorders which an individual can suffer from and some of those genetic disorders include cystic fibrosis, Parkinson’s disease, Down syndrome, Huntington’s disease syndrome, Williams syndrome, autoimmune disease, and Marfan disease. All these diseases can be checked with the help of genetic testing.

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