Question

Choose a genetic disorder to research and then complete the following writing prompt:

Write an essay describing your chosen genetic disorder. Include information about the genetic mutation that causes the disorder, the effects and symptoms of the mutation, how it is acquired, and how common it is.
Hint:
Genetic disorders are caused by mutations in the DNA. These mutations can be passed on from the parents, occur spontaneously, or develop over time.
Questions to Consider:
- Is there anyone famous or important who has ever had this disorder?
- Does the disorder have any advantages?
WRITE AT LEAST 150 WORDS.

Answer 1

I have chosen cystic fibrosis as the genetic disorder to research and describe in this essay.

Cystic fibrosis is caused by mutations in the CFTR gene, which provides instructions for making a protein called cystic fibrosis transmembrane conductance regulator. This protein acts as a channel across cell membranes, allowing the movement of chloride ions and certain other molecules. Mutations in the CFTR gene disrupt the function of this protein, preventing chloride ions from moving properly across cell membranes. This results in the signs and symptoms of cystic fibrosis.

Some of the most common CFTR gene mutations are inherited from parents and cause the protein to be misfolded, not function at all, or have reduced function. These mutations lead to a buildup of thick, sticky mucus in the lungs, pancreas, liver, intestines, sinuses, and sex organs. In the lungs, this mucus traps bacteria and inflames the airways, causing chronic coughing, wheezing, and lung infections. In the pancreas, the mucus blocks enzymes from being released and digested properly, leading to malabsorption and malnutrition. In the liver, it can cause cirrhosis and liver failure. These are the primary causes of illness and death in people with cystic fibrosis.

Cystic fibrosis affects about 30,000 people in the United States and 70,000 worldwide. It is inherited in an autosomal recessive manner, so two copies of the mutated gene must be inherited - one from each parent - for the disorder to develop. Cystic fibrosis severely reduces life expectancy but treatments have improved greatly in recent decades through antibiotics, airway physiotherapy, nutritional support, and lung transplant surgery. Some famous people known to have cystic fibrosis include actor Jason Ritter, singer Katy Perry, and author David R. Wheeler.

While cystic fibrosis causes significant health issues, it also brings communities together and increases appreciation for life. Overall, cystic fibrosis is a tragic genetic disorder, but advancements in treatment give hope for continuing to manage symptoms and extend lifespans.