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Familial Hypercholesterolemia

This Biology Seminar course allowed me to combine two closely related subjects. The first one involved a survey of scientific literary trends in modern research and investigation. I was then required to produce a written report and an oral presentation on a biology research topic that is relevant and current for today.The second involved ethics in science using a case study approach. It is important as a scientist that research be conducted with the highest degree of integrity, which is what we also learned within this course.  Furthermore, we also learned how to create LinkedIn profiles to help build our professional careers.

     The research topic I chose was Familial Hypercholesterolemia:

Familial Hypercholesterolemia, FH, is an inherited disorder that leads to aggressive and premature cardiovascular disease. FH is a monogenic disorder of low-density lipoprotein (LDL) metabolism. It is characterized by markedly elevated levels of LDL cholesterol, autosomal dominant inheritance, and premature cardiovascular disease. Individuals with FH are unable to recycle this natural supply of cholesterol that their bodies are constantly producing. Thus, the cholesterol levels of an individual with FH are exceedingly high. There are two types of FH: Heterozygous FH (HeFH) is you have inherited this genetic mutation from one parent and Homozygous FH (HoFH) is when you inherit the genetic mutation from both parents, this form is much more severe in its consequences. If left untreated, significant complications will ensue such as blockages in the arteries of the heart and/or the brain. Familial Hypercholesterolemia is known as the “invisible” disease; in the United States alone, an estimated 1.3 million people live with FH, but only 10% of the cases are diagnosed. The worldwide prevalence of FH is 1 in 500, whereas it is 1 in every 67 people within the French Canadians, Ashkenazi Jews, Lebanese, and South African communities. Over 90% of people with FH are undiagnosed.

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