Single Gene Research Paper

A single gene can mean the difference between a normal life and a very difficult, painful, or even very short life. With technological advances in the field of genetics, such as the CRISPR-Cas9, it is now possible for geneticists to eliminate these single gene mutations that are lethal, extremely dangerous, or unbearable to the human race. Harlequin ichthyosis, cystic fibrosis and Smith-Lemli-Opitz syndrome are all caused by single genes and can potentially be edited out of the human genome. Harlequin ichthyosis (HI) is a dangerous condition that is predominantly characterized by abnormal skin. Children with HI are born with very thick, hard skin that forms diamond patterns on the body. Between these diamonds of thick skin there are fissures. This hard skin also causes abnormalities in the shape of eyes, noses, mouths and reduced mobility of the arms. Those who suffer from HI are at a greater risk of infection due to their skin’s inability to form the normal protective barrier between the individual and the environment. Affected …show more content…
Cystic fibrosis is the result of mutations in the CFTR gene. This gene is involved in the function of a channel that is used to move chloride ions in and out of cells. It specifically codes for a gene called the cystic fibrosis transmembrane conductance regulator. If the gene is mutated, cells cannot effectively transport chloride ions which, in turn, affects the cells’ abilities to control the movement of water in tissues. This lack of capacity to regulate chloride ions and the movement of water within cells results in thick, sticky mucus that is dangerous to many of the body’s organs. If the sticky mucus clogs an airway, it may result in severe breathing issues and bacterial infections in the lungs. The buildup of thick mucus causes permanent lung damage. This condition also affects the digestive system and even the reproductive