Rare diseases

Trimethylaminuria Makenzie Paulson Genetics Mr. Ken Blacksmith Milwaukie High School June 1st, 2018 Abstract In 1970, the first clinical case of trimethylaminuria (TMAU) was found by J.R Humbert, when diagnosing a 6-year old girl. Trimethylaminuria, is a rare metabolic disorder caused by a genetic mutation or variation, that causes a strong, pungent fish odor to be excreted from the body in the form of sweat, urine, and other bodily fluids. Those diagnosed with trimethylaminuria are more…

Progeria is an exceptionally rare genetic disease that causes premature aging, its estimated to affect one in four million newborns worldwide. The name originated from Greek, which means “prematurely old”. This genetic disease is fatal and it comes in many forms. Children diagnosed with Progeria usually appear normal, and throughout the first two years of life the disease will start to progress. Children with Progeria are expected to live about 13 years, although there are known cases in which…

Samia Temtamy and John Rogers in 1976. The syndrome is named after the Greek goddess proteus who can change his shape. The most thought of person when people think of this condition is John Merrick, commonly known as the elephant man. The condition is rare only about a hundred people have it today. It is still something to worry about when you have a child. Proteus syndrome is the overgrowth of bones, skin, and tissue. It is caused by a mutation in the gene…

research Marden-Walker syndrome. Marden-Walker syndrome is a rare inherited connective tissue disorder (3). This disease involves the oral cavity, facial features and other body parts. This disorder has distinct facial features that can allow you to differientiate this disease from others. Marden-Walker syndrome is a very rare disease. It affects males more often then females (4). There have only been twenty reported cases of this disease (4). Specific sympotoms of Marden- Walker syndrome…

“Advances in Kids’ Early Aging Disease” are two well-written articles that examine different genetic disorders and the threats they pose on children. Seth Mnookin, author of “One of a Kind,” tells the story of Bertrand Might, who at the time was the only known patient suffering from a genetic disorder. “Advances in Kids’ Early Aging Disease” written by Saundra Young, is more of an informational article about Devin Scullion and other children who suffer from a rare genetic condition called…

This is known as a genetic disease that usually occurs in 1 out of 10000. This disease is known to affect the growing ends of bones. This disease will prevent ossification which is a process in which bones elongate because of the deposition of cartilage. This disease is also known by the name Fairbank’s disease. Introduction During the whole course of the report we will see all the major causes of Fairbanks disease. We will explore how the disease actually works in the body and look into all…

Do you believe in Ancient Sumerian aliens? I could show you proof that they exists among us and beyond in the great outer space. The ancient Sumerian aliens can be proven factual because the book of Enoch speaks of Nephilin or watchers of the earth; The fallen angels are twisted through time and thought of as Greek and roman gods These ancient aliens go by many names and can be traced back to the time gods and goddess we’re more prominent. This is how we came up with the great Greek Gods and…

These aren’t just statistics, but people just like us who have suffered and died from a preventable disease; Encephalitis. My name is Jarrah McLoskey, and I am an English historian specialising in disease outbreaks. My colleagues are German virologist Dr Nuria Olive, Dr Maigan Wilson from Australia, and Sarah Moore, a US public health official. We are here to inform you about this worldwide disease, and to propose a national strategy to reduce the occurrence and prevent the spread of…

common autoimmune disease that affects the hair growth. Although this disease is only passed through genetics, but it differs from a single-gene disease. Both parents have to contribute a certain number of specific genes in order for their child to get this disease. Because of this it is rarely passed from parent to child. Now for identical twins it is much different. There is a very low chance that both twins will get it. There is only a 55% for each twin to get it. How the disease works…

My commitment to academic excellence stems from my own struggle with disease that needs research attention and commitment to provide a reduction in morbidity in society. Beginning in August of twelfth grade, I faced a sudden unwarranted impediment. Discerning letters on the whiteboard, reading street signs, and recognizing faces transformed into arduous draining tasks like never before. Paralyzed by unprecedented vision loss, I visited my primary physician who referred me to a series of…