Genetically Inherited Diseases: Chapter Summary

1.The “big” question that the book will attempt to answer is “Why would evolution- which is supple go weed out harmful traits and promote helpful ones- allow this gene (hemochromatosis) to persist?”

In his book Survival of the Sickest, Dr. Sharon Moalem examines several modern diseases, and suggests that although they are harmful now, they may have once provided our ancestors with an evolutionary advantage that was selected for. The book puts the present day view of disease and medicine in a new light, providing the reader with an entirely new perspective on illness, inheritance, and natural selection. Some of the afflictions Dr. Moalem discusses are hemochromatosis, diabetes, and high cholesterol (hypercholesterolemia). The author offers background knowledge about these conditions, their history, and goes on to explain the evolutionary advantages they may have bestowed upon our ancestors, changing the reader’s mindset and creating new

The book will attempt to answer the question of why natural selection has not weeded out diseases and potentially harmful genes.

A doctorate holder in human physiology, neurogenetics and evolutionary medicine, Dr.Sharon Moalem makes connections between modern day diseases and how they were necessary for the survival of our ancestors. In his book Survival of the Sickest, Moalem makes many claims, but they are all hypotheses. One of Moalem’s firsts claims is that hemochromatosis, a fairly rare disease today unless one is of Western European descent, is a disease that can cause many complications within the human body due to an iron excess. Moalem claims that hemochromatosis is still in the gene pool and is very common to people of European descent because of the bubonic plague. The plague, a very fatal disease that reared its head in Europe during the 14th century is

The P1 cross was between four wmf females and nine wild-type males. The F1 progeny consisted of 12 wild-type females, and four triple-mutant males. The P2 cross resulted in 13 females, and 3 males, all with the wild-type phenotype (Table 1). The two parental crosses identify that the mutations are X-link recessive. The triple-mutant females of the P1 cross produce mutant male offspring, but wild-type females. The F1 females would be heterozygous for the mutations, but don’t express the mutations because they still have a wild-type X chromosome. However, the F1 males only have one X chromosome that comes from a mutant mother. The offspring for P1 were crossed again to make and F1 cross. The F1 cross would be X+/Y and X+/X. The F1 cross resulted in 100 F2 progenies over the course of 7 days.

Public perception of word association in our culture is pretty generic. We associate the color red with anger or yellow with caution. Maybe black can be associated with depression or death. Everyone has their own perceptions but they all come out of a larger pot. The title of this paper is “Genetic Disorder: Sickle Cell Disease” what comes to mind when you hear that? Many people associate Sickle Cell with African Americans. The public perception is that like AIDS, Sickle cell is a predominately “Black” disease. I personally have a few people in my immediate family that were born with the disease and it seemingly affects their lives in major ways. In this paper I will explain heredity in relation to the

Sickle Cell Disease is a genetic disease caused by a SNP (Single Nucleotide Polymorphism). Which means it is caused by a single letter gene mutation. Through the advent of CRISPR/Cas9 the disease might be cured. It is a serious reality and will enter medical trials within a handful of years. Sickle Cell Disease is an inherited disease that predominantly affects people of African descent. Red Blood cells become rigid and sickle shaped, causing blockages and pain crises. In cases of Sickle Cell Disease the Beta-Globin are mutated causing faulty and deformed Hemoglobin proteins thus creating sickled and short-lived Red Blood Cells.

Childhood diseases can be some of the most exhausting, stressful, and difficult situations that a family has to go through. It can affect them physically, emotionally, spiritually, and psychosocially. Sick children are more likely to have genetic diseases rather than environmental diseases due to the fact that they are young, and have been exposed to less harmful situations and organisms (Ament, 2003). Unfortunately, many times genetic diseases are fatal, debilitating, and incurable. One of these unfortunate diseases is called factor V Leiden thrombophilia.

For my 16th birthday I received a locket with my monogram on it. Inside was a picture of me and my grandfather when I was little. Earlier that year my grandfather had passed from kidney failure. My papaw was my best friend and being the youngest granddaughter, hit me hard. The rest of that year put me into a major depression. Which led to me being put on anti-depression medication (that was a whole other roller coaster). I can say that those 5 months were the hardest of my life. This due to my mother's diagnosis of stage 2 breast cancer and the seizure disorder I was diagnosed with shortly after. So when I received that locket on my birthday I knew I could always have him closest to my heart. I know my sister does not understand how that small

Genetics have affected me by researching mutations, heritability, and genetic disorders. It affected me because I always wanted to learn about my heritability. Genetic disorders and mutations, I did them because I, myself have a genetic disorder and mutation. I wanted to learn more about mutations and genetic disorders as much as my heritability. I decided to also research florigene and goldfish because I love flowers and how they change colors, yet I find glofish amusing and wanted learn more about them.

When a certain gene is known to cause a disease, it is referred as a single gene disorder or a Mendelian disorder. These disorders involve mutations in the DNA sequences of single genes. As a result, the protein the gene codes for is either altered or missing (Landsverk, 2013). Few examples of single gene disorders includes cystic fibrosis, sickle cell disease, Fragile X syndrome, muscular dystrophy, or Huntington disease. As a rule, single gene disorders are not very common. For example, only one in 2,500 people are born with cystic fibrosis. There are a number of inheritance patterns of single gene disorders that are predictable when you know what they are. There are three main transmission patterns: autosomal-dominant, autosomal-recessive, and X-linked or sex-linked recessive (Mahdieh, 2013).

Retinitis pigmentosa(RP) is an inherited, degenerative eye disease that causes severe vision impairment due to the progressive degeneration of the rod photoreceptor cells in the retina . Retinitis pigmentosa is one of the most common inherited diseases of the retina, affecting 1.5 million people worldwide. Up to 150 mutations are known to cause retinitis pigmentosa, which includes three genetic inheritance patterns- autosomal dominant inheritance, autosomal recessive inheritance, or X-linked inheritance. Symptoms often first appear in childhood that patients would endure nyctalopia, the decreasing vision at night or in low light, then lost of peripheral vision causing “tunnel vision” and finally,

There are four different types of genetic disorders: single gene mutations, chromosome mutations, multifactorial, and mitochondria. Single gene mutation, also known as Mendelian disorder, is an abnormality in the DNA of a gene, and is divided into three categories, dominant, recessive, and X-linked. Chromosomal mutation is a result of extra or lack of a certain number of chromosomes, or an irregular structure of a chromosome. Multifactorial disorder is caused by multiple genes that are combined with environmental and by the lifestyle of that particular person. Mitochondrial disorders are caused by mutations in the DNA of mitochondria, that affects mitochondria function. Although the four types of genetic disorders all affect the human body

For this weeks’ discussion I chose one of the genetic condition called sickle cell anemia. It is amazing to have understanding of cell reproduction and how unequal crossing over can cause different disorders or diseases. Sickle cell anemia is the result of a mutation at the 6th codon of the β gene (Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2015). The mutation causes the hemoglobin in red blood cells to distort to a sickle shape when deoxygenated. The signs and symptoms will vary from person to person and can change over time. The symptoms during sickle cell crisis includes acute or severe pain, anemia, chest pain and difficulty breathing, joint pain, severe infections, and blockage of blood flow in the liver or spleen.

According to the National Institutes of Health, Autosomal Dominant is “one of several ways that a trait or disorder can be passed down (inherited) through families. The gene in question can be found on one of the non sex or numbered chromosomes also known as autosomal. The disease can be caused by a single copy of the disease associated mutation also known as dominant. Numerous people suffer from autosomal dominant disorders. Many factors contribute in developing an autosomal dominant disorder.