Rare diseases

Progeria is a progressive genetic disorder that causes premature aging. It is extremely rare, as only one in four million newborns, will have it worldwide. Progeria is also call Hutchinson-Gilford Disease, after Dr. Jonathan Hutchinson, who described the disease first in 1886, and Dr. Hastings Gilford, who did the same thing in 1904. In 2003, Researchers from The National Human Genome Research Institute, The Progeria Research Foundation, The New York State Institution for Basic Research in…

loss, very prominent eyes and and forehead, a recessed nasal bridge, and gapped teeth. Due to the deformities seen in the face, the disease has also been referred to as “gargoylism”. In addition to all of this, death by the age of ten years old is very common. The disease is quite rare, only being present in about one in one hundred thousand newborn babies. The disease is genetically inherited and is a recessive. To be exhibited in…

Wolff- Parkinson-White Syndrome (also known as WPW or arrhythmias) is when a person is born with an extra electrical pathway in the heart that causes a rapid heartbeat. WPW is a chronic disorder, and can last years, or be life long. This syndrome is a genetic disorder and is found at birth. (Usually inherited from a parent) WPW is not a life threatening disorder, but it can lead to heart problems that can cause death later in life. Everyone including infants can experience symptoms from WPW,…

confirmed in other species such as; llamas, alpacas, and donkeys. EVA is a disease of the respiratory system that affects equines at any age. This virus is usually transmitted during breeding, but can also be transmitted by aerosol, venereal, congenital routes or indirect contact from fomites. In addition, stallions can be carriers of EVA and will continue to shed the virus in their semen. EVA is not a zoonotic or reportable disease. Clinical signs of EVA may often be difficult to detect due…

accidents, murder, drowning, overdosing, and illnesses. Then the number one reason is cancer. Leukemia is the 3rd leading deadliest cancer and kills 160 people each day, more than six people per hour and 58,000 people per year. Leukemia is a really bad disease and kills many people each year. Leukemia is cancer of the blood cells. There are also many symptoms to leukemia. You also don’t know if you will survive or not when you have the cancer leukemia. Leukemia is usually thought of as a…

parents, to ascertaining if there are any risks of having cancer or diseases. Results of genetic testing may help access on how severe a disease might be and find the best solution to diagnose it. It will also help determine the chances of developing or passing on a disease to an offspring. Genetic testing identifies changes in chromosomes, genes or proteins to determine the risk of developing more common diseases such as heart disease. Though these tests has expanded in variety throughout the…

developing the certain disease, or to test to see if the person has other genetic conditions, which would impact their chance of passing on or developing a genetic disorder. Though many positives may outweigh the negatives of genetic testing, does not mean the drawbacks of it should not be considered. When your results are concluded, it may emotionally affect you and your family. Depending on the…

once they were used as test subjects. Animals have proven to be a source for testing since they have similar genetics and organ functions; however they have also proven to be difficult subjects for testing since they have different replications of disease and reactions. Animals’ genetic material is similar to the humans. Scientists are now beginning to use…

caused by one or more abnormalities in a human body . The disorders are rare , but they are possibly handed down from the parents’ genes , or maybe new mutations . One example of a genetic disorder is Tay Sachs disease . Another example of a disorder is polycystic kidney disease . What Does Genetic Testing Tell You Genetic testing gives you an idea if you’re at risk of a certain disease or not . If two parents both have a disease then the child will have a 25% chance of obtaining the…

in a Bayesian calculation. Polymorphic DNA markers linked to the disease locus can be used in many single gene disorders for carrier detection, preclinical diagnosis and prenatal diagnosis. 2. Determine the recurrence risk in autosomal recessive disorders such as thalassemia. With an autosomal recessive condition, the parents of an affected child are both heterozygotes. There are two possible exceptions, both of which are very rare. These arise when only one parent is a heterozygote, in which…