To date there are currently 6,000 know single gene genetic disease affecting humans, according to Doctor Nicholas Gillham. Each one of these have varied effects on the human body in regard how it acts/develops. One such genetic disease is polycystic kidney disease which ravages the body in various horrid ways, to full understand this disease one must address three important points, the history of the disease, the effects that it has on the body, and the science behind the disease itself; once one has addressed this information ones can fully understand the disease itself. The evolution of studying and documenting genetic diseases in the scientific community has been one of exponential growth, this is important because it helps communities …show more content…
The focus of this essay is on the history of polycystic kidney disease, suggesting that early documentation on the disease can be dated to Hippocrates who studied the Greek leper class of civilization. After Hippocrates there was no change in the understanding of genetic diseases until the late 15th century in which Pope Sixtus issued a bill allowing the practice of autopsies for medical analysis; this being important because it allowed the understanding of the human body itself. A similar bill would not be passed until the 19th century where understanding dramatically grew to the legalization and authorization of vivisections on criminals. Thus people started to notice patterns of diseases amongst certain groups, affiliations, and families of the criminal sub cast …show more content…
The PKD Foundation elaborates the science behind polycystic kidney disease as well as other genetic disease. They state that every human has 23 pairs of chromosomes that determine everything about them, if one of these pairs are slightly damaged the formation and growth of the human body is hindered by things such as disorders, disabilities, and genetic diseases. A person inherits their chromosomal pairs from their parents who pass down copies of their chromosomes, if one of the parents have polycystic kidney disease then there is a fifty percent chance that their child would have the disease. The PKD foundation states, “Every child carrying one mutated gene will have PKD”. If both parents had polycystic kidney diseases then the child would have a one-hundred percent chance to get it from their parents. The mutation causing the disease affects chromosomal pairs 4 and 16 and supported by the PKD foundation, “85% of ADPKD mutations occur in chromosome 16 and 15% occur in chromosome 4” (PKD
Kielstein and Hans‐Martin give a case example of a 55 year old female dialysis patient who was diagnosed as a carrier of a dominant genetic disorder: Autosomal dominant polycystic kidney disease (ADPKD). She had four sons who underwent screening and were identified as carriers. One of her sons was 32 years old and the father of a six year old when he first developed symptoms of ADPKD. He committed suicide. Another son, who was 30 years old, divorced his wife and sold their home to keep from burdening her or planning a family. He did not have problems until he was 54. A third son was 25 and left his fiancée for the same reason. He later died from another cause without having ever developed symptoms. The fourth son was 21 when identified as a
In 1990, the first great stride of genetics took place. This was called the Human Genome Project, a large-scale operation that was designed to understand the human genome (genetic structure). Since its commencement, there have been many leaps and bounds that have taken place. For certain genetic issues that we once knew nothing about, we no...
Before discussing how disease has shaped history and altered cultures, it is important to understand how they themselves have developed and changed throughout history. Disease, in the broadest definition of the word, has been present since the beginning of humanity. Even ...
The mindset of every living organism is to survive and reproduce. As such, it may be surprising to hear that diseases actually plays a crucial role in the survival of our predecessors. In the book Survival of the Sickest, Dr. Sharon Moalem discusses the role these hereditary disorders played in keeping our very ancestors alive. Three examples mentioned in the reading selection include hemochromatosis, diabetes, as well as favism. All the diseases I mentioned had a specific aspect, to which I found particularly appealing. In the case of hemochromatosis, I found it intriguing how the author used his own life to draw a connection between the two traits. Dr. Sharon Moalem lost his grandfather to hemochromatosis and later was diagnosed with the
After her diagnosis of chronic kidney failure in 2004, psychiatrist Sally Satel lingered in the uncertainty of transplant lists for an entire year, until she finally fell into luck, and received her long-awaited kidney. “Death’s Waiting List”, published on the 5th of May 2006, was the aftermath of Satel’s dreadful experience. The article presents a crucial argument against the current transplant list systems and offers alternative solutions that may or may not be of practicality and reason. Satel’s text handles such a topic at a time where organ availability has never been more demanded, due to the continuous deterioration of the public health. With novel epidemics surfacing everyday, endless carcinogens closing in on our everyday lives, leaving no organ uninflected, and to that, many are suffering, and many more are in desperate request for a new organ, for a renewed chance. Overall, “Death’s Waiting List” follows a slightly bias line of reasoning, with several underlying presumptions that are not necessarily well substantiated.
Francis S. Collins is a renowned geneticist who originally became Ph.D in Physical Chemistry at Yale University and later on, a Medical Doctor at University of North Carolina. As soon as he graduated he was offered a fellowship in Human Genetics at Yale University under the guidance of Sherman Weissman, currently Sterling Professor of Genetics. In the late 1980’s Collins became known in the field of Medical Genetics for his development of positional cloning, a technique that allows to locate a hereditary disease-causing gene by studying the inheritance pattern within a family. Working with his method researchers found the genes responsible for diseases like Cystic fibrosis, Huntington’s disease, Neurofibromatosis, Multiple Endocrine Neoplasia type one, and Hutchinson-Gilford Progeria Syndrome. In 1993 Dr. Collins succeeded Dr. James D. Watson as the director of the National Human Genome Research Institute (NHGRI), overseeing the role of the United States in the mapping of the human genome. In 2009 President Obama personally recommended Collins to lead the National Institute of Health (NIH) where he works until present day. Francis S. Collins is by no means a bragging individual, bits and pieces of his accomplishments are scattered throughout the book and he makes no big deal about it; instead he j...
Throughout the world, there are many genetic disorders that are well known to society. For example, Down Syndrome, Colorblindness and Autism are a few that people have knowledge of or know at least a fair amount of information of what those conditions are all about. Genetic conditions such as Jacob Syndrome however are rarely talked about. Even though it’s considered as minor compared to the others, it’s a genetic disorder that should still be known even if it’s just a small amount of info given.
...hich inherited traits, such as those for genetic disease, can be tracked over generations. Throughout out the course of human development, scientists will continue to find new new ways to help the human race through the discovery of the human gene inside of each of us, its uses, as well as complications, that can help the survival of our species.
This article is for people whose kidneys fail to work. This condition is called end-stage renal disease (ESRD).
In modern medicine when an ailment arises it can be quickly diagnosed, attributed to a precise bacteria, virus, or body system, and treated with medication, surgery or therapy. During the time before rational medical thought, this streamlined system of treatment was unheard of, and all complaints were attributed to the will of the multitude of commonly worshiped Greek gods (Greek Medicine 1). It was during the period of Greek rationalism that a perceptible change in thought was manifested in the attitudes towards treating disease. Ancient Greece is often associated with its many brilliant philosophers, and these great thinkers were some of the first innovators to make major developments in astrology, physics, math and even medicine. Among these academics was Hippocrates, one of the first e...
Siraisi, Nancy G. Medieval and early Renaissance medicine: an introduction to knowledge and practice. University of Chicago Press, 2009.
Long ago, when humans believed in Zeus and were polytheistic, diseases and ailments were said to be a punishment from the gods. This time period, time of the ancient Greeks, had one man step out and go beyond belief and reached above a pinnacle in the works of a physician. This man created the start of a new belief, one where illnesses and diseases were not caused by some supernatural phenomenon, yet it be caused by the works of bad choices of humans instead.
Polycystic Kidney Disease, often referred to as PKD, is a genetic disorder passed down through families and involving bilateral renal cysts, usually without abnormality. The kidneys are located in the upper part of the abdomen, toward the back, and about the size of one’s fist. They filter waste and unneeded fluid from the blood and form urine. When cysts form in or on the kidneys they fill with fluid and become enlarged. The enlargement of the kidneys will result in decreased function and eventually kidney failure. There are two major forms of PKD, autosomal dominant (ADPKD) and autosomal recessive (ARPKD). Both of these can involve the presence of renal cysts at any time during an affected person’s life, from prenatal stages into adulthood.
Hippocrates was a Greek physician that left a legacy that existed during his lifetime in Classical Greece and continues today. His moral and ethical standards were the foundation of his teachings, along with his meticulous writings concerning the study of the human body. He firmly believed that poor health and disease were the result of a natural process that could be discovered and cured through careful clinical reasoning and observations. Hippocrates travelled throughout Greece teaching and describing disease symptoms, and taught doctors how to analyze and treat specific illnesses or diseases. Hippocrates’s accomplishments give him the respect from doctors and medical professionals around the world that continues even today.
Chronic Kidney Disease. Mayo Foundation for Medical Education and Research, 2014. Web. 20 May 2014.