A genetic disease is defined as being a disease or disorder that was inherited genetically by an offspring from his or her biological parents. These diseases or disorders can vary in effects and consequences towards the human bodies and may also greatly differ from one organism to another, however they can equally have identical results. They tend to affect the genes, chromosomes, cells and a few other parts of the body by altering, deleting, substituting, etc. the components of the previously mentioned areas. Some of these diseases in Nova Scotia are isolated and known as Usher 's Syndrome, Friedreich 's ataxia, Niemann Pick Disease, Fabry Disease and Charcot-Marie Tooth Disease. Interestingly enough, Niemann Pick Disease involves the metabolism of the human body which in turn, once affected, tends to spread and impact other organs like the liver, spleen, lungs and more. In this report, an explanation of Niemann Pick Disease, as well as the advantages and disadvantages for individuals with this condition knowing its origin and finally the ethical implications regarding the research of this disease will be given.
What is Niemann Pick Disease? …show more content…
It is also known as an autosomal recessive disease which means the parents are carriers of the affected gene however they will show no signs of symptoms1. This condition affects the lipid metabolism of human beings with this disorder and because of this, large harmful amounts of lipids begin to amass in the spleen, bone marrow, lungs, liver and finally the brain. In order to fully understand the depth and importance of this, it must be clear that "lipid metabolism" means the breakdown, transport and use of all the body fats and