Cameron Alexander
Mrs. Schroll 3rd period
Monday, May 5th
Canavan disease
Canavan disease is an inherited disorder that causes progressive damage to the nerve cells in the brain. It is in the group of rare genetic disorders called Leukodystrophies. Leukodystrophies are characterized by the degeneration of myelin, which is the fatty covering that insulates nerve fibers. The myelin is necessary for rapid electrical signals between the neurons. I chose this disease because I had never heard of it and it seems to only affect a very small amount of people. Also it isn’t very common so I wanted to learn more about it, which helped when looking for information
The first case of Cananvan disease was described in 1931 by Myrtelle Canavan who was one of the first female pathologists. In 1987 a family with two children with Canavan disease sent tissue samples to Reuben Matalon who was a researcher looking for the gene. With those samples he was able to identify the gene 1993. He was able to make a test to help at risk couples that might have a child with the disease. The test was free but in 1997 the Miami Children’s Hospital, which was Dr. Matalon’s employer, patented the gene and claimed everything received from testing. This resulted in the Canavan Foundation withdrawing their testing. The Canavan Foundation later sued the Hospital and the lawsuit was resolved in a sealed out of court session. This case raised the issue of how suitable it is to patent genes.
Canavan disease first begins to appear in infants within the first few months of life. Between ages three to five problems with development, controlling head movement, and sitting without support begin to appear. Delay in motor skills also show. These symptoms are caused by the la...
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...rrier. There are available tests you can take to determine the possibility of your children receiving the disease.
Canavan disease is thought to effect less than a thousand people in the United States. One in forty are carriers for the disease. It occurs within people of all ethnic backgrounds but most commonly found in the people of Ashkenazi Jewish heritage. This is thought because those of the Jewish faith often marry within the same group or culture. These people are a group located mostly in eastern and central Europe.
Canavan disease is a rare genetic disorder that causes progressive damage to the nerve cells in the brain. While not yet curable, many therapies and experimental treatments are available to help those affected. As time goes on scientists will only continue to find a cure for Canavan disease and hopefully in the near future they will find one.
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
Creutzfeldt-Jakob is known as a prion disease. Prion is a protein that occurs normally inside the brain, however
TSEs or more commonly prion diseases are a group of invariably fatal neurodegenerative diseases that occur in humans and animals . This disease is caused by a protease –resistant protein (PrPsc) after misfolding of a host-encoded prion protein (PrP). TSEs can exist as genetic, infectious or sporadic forms. The diseases are characterized by dementia, ataxia and neuropathlogically due to loss of specific neurons in the brain. Other clinical features include persistent painful stimuli, dystonia, visual or cerebellar problems and gliosis (1).
While it is rare to have a diagnosis in children younger than 12 years of age, it does happen. Average age of onse...
Infantile NCL (Santavuori-Haltia disease): begins between about 6 months and 2 years of age and progresses rapidly. Affected children fail to thrive and have microcephaly. Also typical are short, sharp muscle contractions called myoclonic jerks. Initial signs of this disorder include delayed psychomotor development with progressive deterioration, other motor disorders, or seizures. The infantile form has the most rapid progression and children live into their mid childhood years.
(Marieb, 2016). Myelin is the protective coat surrounding and insulating the nerve fibers of CNS. Myelin is fatty tissue substance that if attacked by immune cells causing a short-circuits in the current so that the successive gaps are excited more and more slowly, and eventually impulse conduction ceases which resulted in various forms of symptoms (Marieb, 2016). The degradation could either be “by inflammation, stroke, immune disorder, metabolic disorders, or nutritional deficiencies” (Slomski, 2005). The target that immune cells are sensitized to attack remains
This disease is caused by a defective gene and was discovered in the 1930's. Scientists are
Walton, Sir John. Brain’s Diseases of the Nervous System. 9th ed. Oxford University Press. Oxford: 1985.
In September 14, 1990, an operation, which is called gene therapy, was performed successfully at the National Institutes of Health in the United States. The operation was only a temporary success because many problems have emerged since then. Gene therapy is a remedy that introduces genes to target cells and replaces defective genes in order to cure the diseases which cannot be cured by traditional medicines. Although gene therapy gives someone who is born with a genetic disease or who suffers cancer a permanent chance of being cured, it is high-risk and sometimes unethical because the failure rate is extremely high and issues like how “good” and “bad” uses of gene therapy can be distinguished still haven’t been answered satisfactorily.
Multiple Sclerosis is a nervous system disease that affects the spinal cord and the brain by damaging the myelin sheaths that protects nerve cells. Destroyed myelin prevents messages from communicating and sending properly from the brain, through the spinal cord, to internal body parts. In the United States, more than 350,000 people are diagnosed with this disease. Anyone can get this disease, but it is more common among Caucasian women. MS symptoms begin between the ages 20-40 and are caused by nerve lesions being present in multiple areas of the Central Nervous System, symptoms differ on the lesion’s location.
The Human Genome Project is the largest scientific endeavor undertaken since the Manhattan Project, and, as with the Manhattan Project, the completion of the Human Genome Project has brought to surface many moral and ethical issues concerning the use of the knowledge gained from the project. Although genetic tests for certain diseases have been available for 15 years (Ridley, 1999), the completion of the Human Genome Project will certainly lead to an exponential increase in the number of genetic tests available. Therefore, before genetic testing becomes a routine part of a visit to a doctor's office, the two main questions at the heart of the controversy surrounding genetic testing must be addressed: When should genetic testing be used? And who should have access to the results of genetic tests? As I intend to show, genetic tests should only be used for treatable diseases, and individuals should have the freedom to decide who has access to their test results.
Creutzfeldt-Jakob Disease is an uncommon, deteriorating, consistently fatal brain disorder that is caused by prions. The symptoms of CJD are similar of Alzheimer’s but progress much faster. There are three variations of CJD, sporadic, familial, and acquired. All variations affect the brain the same way and have the same result of death. CJD is an untreatable and incurable disease.
With motor neurone disease it attacks the nerves, in the brain and spinal cord. This means messages gradually stop reaching muscles, which leads to weakness and wasting. In the case study the
Coughlin, S. S. (2002). Future challenges for research on diagnostic tests: genetic tests and disease prevention. Journal of Epidemiology & Community Health, 56(5), 335-336. doi:10.1136/jech.56.5.335
GSD I is an inherited autosomal recessive disorder with the incidence being 1 in 100,000. Parents may be heterozygote carriers, making them asymptomatic, however they have a 25% chance of having a child that is affected by GSD I. Prenatal diagnosis can be made by completing a liver biopsy at 18-22 weeks but no fetal treatments are currently available and standard newborn screening tests are not able to detect GSD I.