1)Familia Dysautonomia is an autonomic nervous system disorder that affects the development of sensory whether its sympathetic or parasympathetic in the autonervous system resulting in symptoms like: gastrointestinal problems, bouts of severe vomiting, recurrent pneumonia, altered sensitivity to pain and temperature and unstable heart rate, blood pressure and body temp. FD is caused by mutations in the IKBKAP gene. The disease is inherited to only a child who recieves two mutated copies of the IKBKAP gene (one from each parent) will get the disease. FD mainly affects people with Ashkenazi Jewish ancestry, and the two mutations 23andme provides data for - IVS20+6T>C and R696P - account for more than 99% of cases in this population.
2)Genetic testing can be beneficial in several ways in preventing a disease before it is diagnosed, - knowing what types of diseases you may inherit is always helpful in our daily healthy lifestyle. It may provide a sense of relief from uncertainty and help people make informed decisions about managing their health care.
Some of the disadvantages of genetic testing may be that it affects our civil rights. Yet recieving a negative genetic test can also affect family relations, with many individuals feeling "survivor guilt", for example if they have a brother or sister who has been shown to carry that gene alteration, they may feel guilty at having escaped the increased cancer risk, while their sibling is still at risk. A person may suffer severe depression like symptoms if diagnosed.
3) Yes, I would highly encourage myself and others to undergo personal genetic testing because of the curiosity of what types of diseases I might inherited from my past ancestors. If I do recieve a negative genetic test result, I will keep a positive outcome on the ability to prevent a horrendous disease whether it is avoidable or not.
Friday, March 19, 2010
Thursday, March 18, 2010
Atrial Fibrillation
1) Atrial fibrillation is characterized by chaotic electrical signals in the heart that cause the upper chambers (atria) to quiver. It is the most common type of sustained irregular heart rhythm, and while it is not usually life threatening on its own, it can have deadly complications. Atrial fibrillation can disturb smooth blood flow, increasing the risk of clots that can cause organ damage or stroke. The heart’s ability to pump blood can also deteriorate, leading to heart failure. The most common causes of atrial fibrillation are heart abnormalities and heart muscle damage, but in at least 10 percent of cases there is no underlying heart disease that explains the condition.
Most causes for Atrial Fibrillation are: hypertension (high blood pressure),Coronary artery disease, Heart valve disease, After heart surgery, Chronic lung disease, Heart failure, and Pulmonary embolism.
In at least ten percent of the cases, no underlying heart disease is found. In these cases, AF may be related to alcohol or excessive caffeine use, stress, certain drugs, electrolyte or metabolic imbalances, or severe infections. In some cases, no cause can be found. The risk of AF increases with age, particularly after age 60.
2) I think that one benefit to personal genetic testing is that it may be able to prevent disease by giving people a warning about what they are at risk for so that they may take the appropriate measures to maybe prevent acquiring the disease that they are at risk for. One concern is that if someone were to find out that they were at risk for some disease, they would suffer from severe depression after wards and would not be able to enjoy life, because they would always be worried about and thinking about this disease that they are at risk for.
3) If I had the opportunity, to undergo personal genetic testing, I don't think that I would do it, because I'd rather not know what I am at risk for because it will just stress me out even though I may never even get the disease. I would rather just try to live a healthy life and try my best to stay healthy and protect myself from any diseases this way.
Most causes for Atrial Fibrillation are: hypertension (high blood pressure),Coronary artery disease, Heart valve disease, After heart surgery, Chronic lung disease, Heart failure, and Pulmonary embolism.
In at least ten percent of the cases, no underlying heart disease is found. In these cases, AF may be related to alcohol or excessive caffeine use, stress, certain drugs, electrolyte or metabolic imbalances, or severe infections. In some cases, no cause can be found. The risk of AF increases with age, particularly after age 60.
2) I think that one benefit to personal genetic testing is that it may be able to prevent disease by giving people a warning about what they are at risk for so that they may take the appropriate measures to maybe prevent acquiring the disease that they are at risk for. One concern is that if someone were to find out that they were at risk for some disease, they would suffer from severe depression after wards and would not be able to enjoy life, because they would always be worried about and thinking about this disease that they are at risk for.
3) If I had the opportunity, to undergo personal genetic testing, I don't think that I would do it, because I'd rather not know what I am at risk for because it will just stress me out even though I may never even get the disease. I would rather just try to live a healthy life and try my best to stay healthy and protect myself from any diseases this way.
Canavan disease
Canavan disease is caused by a mutation in the ASPA gene. This mutation in ASPA causes a deficientcy in an enzyme called aspartoaclyase. Because of this deficientcy of aspartoaclyase the body builds p and enzyme called N-acetylaspartic acid (NAA). This build up of NAA causes the myelin in g the brain (white matter) to be broke down which has numerous effects on the CNS. Som effects include mental retardation, los of motor skills, abnormal muscle tone and many more. Although most people with canavan disease die during chilhood, some rare cases are seen in adults.
The Ashkenazi Jewish population account for 98% of the carriers for 2 of the 3 genes that cause Canavans disease. Theses genes are Y231X and E285A. These genes are only foud in 3% of non Jewish descent. nother gene that causes canavans disease is A305E and is found in 40-60% of non Jewish patiens with canavans disease.
Although there are many benefits from getting personal genetic testing, the possibility of finding out something horrible like being predisposed to canavs disease would be a hard pill to swallow. personally I would love to get tested so that I could take proactive measures against any disease that I'm suceptable to.
The Ashkenazi Jewish population account for 98% of the carriers for 2 of the 3 genes that cause Canavans disease. Theses genes are Y231X and E285A. These genes are only foud in 3% of non Jewish descent. nother gene that causes canavans disease is A305E and is found in 40-60% of non Jewish patiens with canavans disease.
Although there are many benefits from getting personal genetic testing, the possibility of finding out something horrible like being predisposed to canavs disease would be a hard pill to swallow. personally I would love to get tested so that I could take proactive measures against any disease that I'm suceptable to.
Glycogen Storage Disease type 1a
Glycogen Storage Disease type 1a
1. Glycogen storage disease type 1a is a metabolic disorder. This genetic disorder results by defects in the gene for an enzyme called glucose-6-phosphatease. This disorder prevents the release of glucose form the liver into the bloodstream causing low blood glucose. Reduced glycogen breakdown results in increased glycogen storage in the liver and kidney and cause enlargement of both organs. Approximately one in 100,000 people carries a mutation in both copies of the gene and affected by the disorder. Jewish people are most affected because of prevalence of a particular mutation among Jews and central and eastern European descent. GSD type 1a is inherited in a recessive manner, which means that only a child who receives two mutated copies of the gene for G6pase will get the disease. More than 85 known mutation of the gene have been documented.
2. One of the benefits of personal genetic testing is knowing about your health condition in the future. It will encourage you to choose a healthy life style in order to prevent certain diseases. However, one of the concerns would be that knowing what disease you might get in the future will make you stressful and lead you to a serious depression.
3. If I could undergo personal genetic testing from 23andMe for free, I would not do it because I am skeptical about this test and I don’t believe it is true. In addition, I don’t want to know what disease I might get in the future because it will affect my self steam and make my life miserable.
1. Glycogen storage disease type 1a is a metabolic disorder. This genetic disorder results by defects in the gene for an enzyme called glucose-6-phosphatease. This disorder prevents the release of glucose form the liver into the bloodstream causing low blood glucose. Reduced glycogen breakdown results in increased glycogen storage in the liver and kidney and cause enlargement of both organs. Approximately one in 100,000 people carries a mutation in both copies of the gene and affected by the disorder. Jewish people are most affected because of prevalence of a particular mutation among Jews and central and eastern European descent. GSD type 1a is inherited in a recessive manner, which means that only a child who receives two mutated copies of the gene for G6pase will get the disease. More than 85 known mutation of the gene have been documented.
2. One of the benefits of personal genetic testing is knowing about your health condition in the future. It will encourage you to choose a healthy life style in order to prevent certain diseases. However, one of the concerns would be that knowing what disease you might get in the future will make you stressful and lead you to a serious depression.
3. If I could undergo personal genetic testing from 23andMe for free, I would not do it because I am skeptical about this test and I don’t believe it is true. In addition, I don’t want to know what disease I might get in the future because it will affect my self steam and make my life miserable.
Celiac Disease
1. Celiac Disease causes inflammation in the small intestine due to an auto-immune response in which the immune system is triggered by "wheat gluten," an environmental factor that gets mistaken as a Pathogen. Rye and Barley antigens can also cause this immune response. As a result, this disrupts the digestion process and causes symptoms such as gas and diarrhea. About 40% of the heritable risk can be attributed to the HLA Class II genes, but the other non-HLA genes have yet to be identified.
23andme tested the TT genotype and found that people who have this genotype are 1 to 1.49 times more likely to inherit Celiac disease.
2. One good reason for genetic testing is that it can reveal potential diseases/conditions that we may be prone to developing. Perhaps the best medicine is preventative medicine, so knowing what may lie ahead, can give us an advantage in that we can possibly avoid, prevent or mitigate the onset of any disease/condition that we may be susceptible to. One concern is that once you have a genetic reading, which may reveal some potential for a life threatening disease, and if it does, that can cause even more unnecessary stress (cortisol production). We may not be able to control what conditions await us int he future, so why worry about it now.
3. I would not do the free genetic test because if I find out that I will develop some life altering disease, I would most likely become depressed and I don't have any desire to live my life that way.
23andme tested the TT genotype and found that people who have this genotype are 1 to 1.49 times more likely to inherit Celiac disease.
2. One good reason for genetic testing is that it can reveal potential diseases/conditions that we may be prone to developing. Perhaps the best medicine is preventative medicine, so knowing what may lie ahead, can give us an advantage in that we can possibly avoid, prevent or mitigate the onset of any disease/condition that we may be susceptible to. One concern is that once you have a genetic reading, which may reveal some potential for a life threatening disease, and if it does, that can cause even more unnecessary stress (cortisol production). We may not be able to control what conditions await us int he future, so why worry about it now.
3. I would not do the free genetic test because if I find out that I will develop some life altering disease, I would most likely become depressed and I don't have any desire to live my life that way.
Parkinson's Disease
1. Based on 23andme.com, Parkinsons Disease is a neurological disorder that affects the brain's motor center. Onset of the disease becomes noticable late in life, usually after 7o years of age. There are about 1.5 million Americans affected with the diseae now. Symptoms include shaking of limbs and joints, stiffness in and slowed movement of joints, and affected balance and coordination.
The gene that has the biggest association with the disease is the LRRK2 gene. Mutations in the gene is said to cause PD. There are about 50 different variants of the gene, but the best studied on is variant rs34637584. Not all people with this variant end up with PD, even though the allele is dominant.
2. One benefit of the testing performed in such places as 23andme.com may be that it helps give clients a clue on what type of diseases they are prone for, so they can at least make attempts to minimize the onset of the possible disease.
One concern, or disadvantage of this testing is fear and unnecessary worries that the prognosis could generate. Many of the prognoses don't have a good accuracy rate due to ignorance of all the factors that cause the particular disease. Such is an example with PD.
3. If I was offered a personal DNA test, I wouldn't take it, even if it was for free. For one, there is a security concern of the possibility of the results to leak to health insurance companies or other unnecessary parties. Also, even if the results would be disturbing with horrific prognosis of a high possibility of disease such as Parkinsons, I would become unnecessarily preoccupied with trying to defeat the disease, while I could just live a healthy life now and trust God with my unpredicable future in terms of diseases.
The gene that has the biggest association with the disease is the LRRK2 gene. Mutations in the gene is said to cause PD. There are about 50 different variants of the gene, but the best studied on is variant rs34637584. Not all people with this variant end up with PD, even though the allele is dominant.
2. One benefit of the testing performed in such places as 23andme.com may be that it helps give clients a clue on what type of diseases they are prone for, so they can at least make attempts to minimize the onset of the possible disease.
One concern, or disadvantage of this testing is fear and unnecessary worries that the prognosis could generate. Many of the prognoses don't have a good accuracy rate due to ignorance of all the factors that cause the particular disease. Such is an example with PD.
3. If I was offered a personal DNA test, I wouldn't take it, even if it was for free. For one, there is a security concern of the possibility of the results to leak to health insurance companies or other unnecessary parties. Also, even if the results would be disturbing with horrific prognosis of a high possibility of disease such as Parkinsons, I would become unnecessarily preoccupied with trying to defeat the disease, while I could just live a healthy life now and trust God with my unpredicable future in terms of diseases.
Alpha-1 antitrypsin deficiency
1. The alpha-1 antitrypsin (AAT) protein protects the body, especially fragile lung tissues, from the damaging effects of a powerful enzyme called neutrophil elastase that is released from white blood cells. In AAT deficiency, a genetic mutation reduces levels of the protective protein in the bloodstream. AAT deficiency can lead to chronic obstructive pulmonary disease (COPD), specifically emphysema, and liver disease. Smoking, which can inhibit what little AAT protein an affected person does have, increases the risk of lung disease.
AAT deficiency is a genetic disorder caused by mutations in the gene encoding AAT. These mutations trap the protective protein in the liver, reducing its levels in the bloodstream. AAT deficiency can lead to chronic obstructive pulmonary disease (COPD), specifically emphysema, and liver disease. Smoking, which can actually inhibit what little AAT protein an affected person's lungs do contain, increases the risk of COPD.
2.The benefit of personal genetic testing is that person can know if he/she is acquired to certain disease(s) and can make different life choices, which possibly will help to prevent the disease from occurring. Genetic testing provides important information for diagnosing, treating, and preventing of some diseases. The concern of personal genetic testing is that may open up ethical or psychological problem. Person may fall into depression by being told that he/she might develop a disease(s) that are unpreventable and can not be treated.
3. Even if I would have a chance to undergo personal genetic testing from 23andMe for free, I would not do it. I do not want to know what kind of diseases I may have. I want to deal with problems as they arise, and do not want to be afraid of things that may or may not happened.
AAT deficiency is a genetic disorder caused by mutations in the gene encoding AAT. These mutations trap the protective protein in the liver, reducing its levels in the bloodstream. AAT deficiency can lead to chronic obstructive pulmonary disease (COPD), specifically emphysema, and liver disease. Smoking, which can actually inhibit what little AAT protein an affected person's lungs do contain, increases the risk of COPD.
2.The benefit of personal genetic testing is that person can know if he/she is acquired to certain disease(s) and can make different life choices, which possibly will help to prevent the disease from occurring. Genetic testing provides important information for diagnosing, treating, and preventing of some diseases. The concern of personal genetic testing is that may open up ethical or psychological problem. Person may fall into depression by being told that he/she might develop a disease(s) that are unpreventable and can not be treated.
3. Even if I would have a chance to undergo personal genetic testing from 23andMe for free, I would not do it. I do not want to know what kind of diseases I may have. I want to deal with problems as they arise, and do not want to be afraid of things that may or may not happened.
Wednesday, March 17, 2010
Mucolipidosis IV
Mucolipidosis IV is caused by mutations in the mucolipin-1 (MCOLN1) gene that disrupt proper transport of certain fats and sugars within cells. The disease is characterized by mental and physical developmental delay, with language and physical capabilities never progressing much past those of a typical 12- to 15-month-old. There are also effects on the eyes, including corneal clouding and retinal degeneration.
A person must inherit a mutated copy of MCOLN1 from each parent in order to have mucolipidosis IV. If two parents are carriers of a mutation, there is a 25% chance their child will be born with the disorder. There is a 50% chance that their child will be an unaffected carrier for mucolipidosis IV. Each unaffected sibling of an affected child has a two in three chance of being a carrier.
More than 16 mutations in the MCOLN1 gene have been documented so far. In people with Ashkenazi Jewish ancestry, most cases of mucolipidosis are due to two specific mutations. 23andMe reports data for the more common mutation of the two. This mutation — IVS3-2A>G — is found in 70-80% of cases of mucolipidosis IV in Ashkenazi Jews. Approximately one out of every 103 Ashkenazi Jews carries a mutation that causes mucolipidosis IV. About one out of every 137 specifically carries the IVS3-2A>G mutation.
1. One of the advantages of genetic testing, is knowing what to expect. What diseases will affect you and how they will affect. It gives you a choice of not allowing your off-spring a chance to inherit a certain condition. You can center your future around your DNA,
2. If I could test for free, I would not at this point in my life. I will never give birth to a child again. Besides the damage is already done. I have four sons who might have already receive copies of my bad DNA.
A person must inherit a mutated copy of MCOLN1 from each parent in order to have mucolipidosis IV. If two parents are carriers of a mutation, there is a 25% chance their child will be born with the disorder. There is a 50% chance that their child will be an unaffected carrier for mucolipidosis IV. Each unaffected sibling of an affected child has a two in three chance of being a carrier.
More than 16 mutations in the MCOLN1 gene have been documented so far. In people with Ashkenazi Jewish ancestry, most cases of mucolipidosis are due to two specific mutations. 23andMe reports data for the more common mutation of the two. This mutation — IVS3-2A>G — is found in 70-80% of cases of mucolipidosis IV in Ashkenazi Jews. Approximately one out of every 103 Ashkenazi Jews carries a mutation that causes mucolipidosis IV. About one out of every 137 specifically carries the IVS3-2A>G mutation.
1. One of the advantages of genetic testing, is knowing what to expect. What diseases will affect you and how they will affect. It gives you a choice of not allowing your off-spring a chance to inherit a certain condition. You can center your future around your DNA,
2. If I could test for free, I would not at this point in my life. I will never give birth to a child again. Besides the damage is already done. I have four sons who might have already receive copies of my bad DNA.
Age-related macular degeneration
1.Age-related macular degeneration (AMD) is a disease that is known to be the most common cause of irreversible vision loss in the western hemisphere among people over the age of sixty. The disease also affects the central part of the retina, which is very important for daily activities, such as reading, driving, and recognizing faces. Some people might not even know that they have AMD because it can develop slowly. However, most people experience a rapid loss of sight in both eyes from this disease. Vision that is lost due to AMD cannot be restored, but there are treatments that can slow down its development. Regular, comprehensive eye exams are also recommended to detect any early signs of AMD.
The CFH gene was tested by 23andme for AMD. Such a gene encodes a protein that regulates the complement system, which is an important part of the immune system because it clears out pathogens and cellular debris. However, if the complement system loses control, it can lead to persistent inflammation and can damage the body’s own cells. In response to elevated levels of C-reactive protein (CRP), the CFH helps to stop the complement system from losing control. Thus, CPR is normally recruited to sites of injury, which are places where the tissue might be vulnerable to outside invaders.
Variations in the DNA sequence (SNP) in the CFH gene can affect a region of the CFH protein that is important for binding to CRP. It has been known that excess levels of CRP can lead to an overactive complement system, which damages the eye tissue. Since scientists have identified CFH SNP as a major genetic factor for AMD, it has helped to research for possible treatments.
2.A benefit for personal genetic testing is that one will know if he or she carries a gene for a life-threatening disease. The only concern for genetic testing is that it can determine whether or not someone is eligible to receive health care.
3. If I could undergo personal genetic testing for free, I would say, “No way.” I would not be able to handle the stress of knowing whether I was healthy or not. The best way is to live your life day by day and to put your health as your number one priority.
The CFH gene was tested by 23andme for AMD. Such a gene encodes a protein that regulates the complement system, which is an important part of the immune system because it clears out pathogens and cellular debris. However, if the complement system loses control, it can lead to persistent inflammation and can damage the body’s own cells. In response to elevated levels of C-reactive protein (CRP), the CFH helps to stop the complement system from losing control. Thus, CPR is normally recruited to sites of injury, which are places where the tissue might be vulnerable to outside invaders.
Variations in the DNA sequence (SNP) in the CFH gene can affect a region of the CFH protein that is important for binding to CRP. It has been known that excess levels of CRP can lead to an overactive complement system, which damages the eye tissue. Since scientists have identified CFH SNP as a major genetic factor for AMD, it has helped to research for possible treatments.
2.A benefit for personal genetic testing is that one will know if he or she carries a gene for a life-threatening disease. The only concern for genetic testing is that it can determine whether or not someone is eligible to receive health care.
3. If I could undergo personal genetic testing for free, I would say, “No way.” I would not be able to handle the stress of knowing whether I was healthy or not. The best way is to live your life day by day and to put your health as your number one priority.
Tuesday, March 16, 2010
Malaria Resistance
1) Parasites that cause the disease can be transferred from person to person by mosquitoes, malaria is ususally restricted to tropical and subtropical areas of the world where these insects thrive-the area hit hardest is Sub-Saharan Africa. The symptoms of malaria can be fever, chills, sweats, headaches, nausea, in severe cases neurological problems, anemia, respiratory problems, shock, and kidney failure. When a malaria-carrying mosquito bites someone, it injects the parasites it had picked up, which then make their way into the victim's red blood cells to multiply. One species of malaria parasite, Plasmodium vivax, exploits a protein on the surface of red blood cells, the "Duffy antigen," in order to enter cells. Some people, referred to as "Duffy-negative," lack the Duffy antigen on their red blood cells and are rendered resistant to infection by P.vivax malaria.
2) One of the benefits about personal genetic testing is knowing your health condition helps you plan important things in life. And one concern is that you can face really big health issue and it might discourage you make your life miserable.
3) If I could undergo personal genetic testing from 23andMe for free, I would not do it. Because I don't want to know what is going to happen in my future ahead of time. I want to live my life as I do now.
2) One of the benefits about personal genetic testing is knowing your health condition helps you plan important things in life. And one concern is that you can face really big health issue and it might discourage you make your life miserable.
3) If I could undergo personal genetic testing from 23andMe for free, I would not do it. Because I don't want to know what is going to happen in my future ahead of time. I want to live my life as I do now.
Monday, March 15, 2010
BRCA cancer mutations (selected)
1.BRCA1 and BRCA2 encode proteins involved in repairing DNA damage. BRCA1 and BRCA2 mutations are reported to be responsible for most of inherited breast cancer and ovarian cancer in women. These same mutations for men have been reported to cause an increase risk for breast cancer and possibly prostate cancer as well. Three specific cancer associated mutations were found in people with Ashkenazi Jewish ancestry-185delAG in BRCA1, 5382insC in BRCA1 and 6174delT in BRCA2.These mutations are caused by deletion or addition of one or more letters in DNA sequence. These three mutations reported to be causing up to 80-90% of heredity ovarian and breast cancers in this ethnic group. The test showed that the Ashkenazi Jewish with 185delAG , 5382insC BRCA1, or 6174deIT BRCA2 mutation their risk of developing breast cancer is approximately 19% at age 40 but rises significantly to approximately 82% by age 80.
2.By someone telling you that you are more likely to acquire certain disease(s) and taking the steps to possibly preventing the disease from occurring is a benefit if you are able to prevent disease. Even if the disease did occur despite your efforts of trying to prevent it, if you were told exercise/eating healthy could prevent disease, you still benefit by trying by living a healthier lifestyle. However on the otherside, when people are told they might develop a disease(s) that are unpreventable and incurable could really upset somebody leading into depression and a meaningless life for many.
3. I wouldn’t get tested from 23andMe even if it were free. I live a healthy lifestyle as it as by eating well and exercising, so as far as preventing any disease am already doing so. Knowing what disease I might get would just be discouraging to me therefore I rather not know.
2.By someone telling you that you are more likely to acquire certain disease(s) and taking the steps to possibly preventing the disease from occurring is a benefit if you are able to prevent disease. Even if the disease did occur despite your efforts of trying to prevent it, if you were told exercise/eating healthy could prevent disease, you still benefit by trying by living a healthier lifestyle. However on the otherside, when people are told they might develop a disease(s) that are unpreventable and incurable could really upset somebody leading into depression and a meaningless life for many.
3. I wouldn’t get tested from 23andMe even if it were free. I live a healthy lifestyle as it as by eating well and exercising, so as far as preventing any disease am already doing so. Knowing what disease I might get would just be discouraging to me therefore I rather not know.
Sunday, March 14, 2010
Factor XI deficiency
1. Factor XI deficiency is a type of hemophilia caused by mutations that cause a deficiency of clotting factor XI. Clotting factor XI is a protein that helpt body seal up breaches in blood vessels that are caused by injury such as a tumble off of your first bike or a shaving nick caused by a dull blade. Both males and females have equal chance of having factor XI deficiency. There is a great deal of variation in how factor XI deficiecy affects people. Some people will never experience abnormal bleeding, while others will bleed profusely after minor injuries. This disease is particularly common in people with Ashkenazi Jewish ancestry. Approximately one out of every 23 Ashkenazi Jews carries a mutation that can cause factor XI deficiency. 23andMe reports data for the three most common factor XI deficiency-causing mutations-F282L, E117X and IVS14-G>A. The F283L mutation is unique to Ashkenazi Jews population. The E117X mutation is found in low frequencies in other populations. Factor XI deficiency caused by these mutations is inherited in a recessive manner, meaning that only a child who receives two copies of a mutation (one from each parent) will get the disease.
2. Genetic testing can provide a sense of relief from uncertainty and help people make informed decisions about managing their healthcare. In addition, it can provide important information for diagnosing, treating, and preventing illnesses. On contrary, genetic testing results can reveal deadly disease that can cause people become depressed and can lead to suicidal attempts.
2. Genetic testing can provide a sense of relief from uncertainty and help people make informed decisions about managing their healthcare. In addition, it can provide important information for diagnosing, treating, and preventing illnesses. On contrary, genetic testing results can reveal deadly disease that can cause people become depressed and can lead to suicidal attempts.
3. Even if I could undergo personal genetic testing from 23andMe for free I would still not bother to waste my time on getting it. I do not see any benefit in getting to know about my future diseases because if I do, it would interfier with my daily life in case I am carrier of some scary diseases. One of colonical expressions in my language says: "If your eyes don't see it, you heart would not hurt."
Sickle cell anemia and Malaria resistance
1. Sickle cell anemia is an inherited blood disorder that affects hemoglobin throughout the body. It disrupts this important process by distorting normally flexible disc-shaped RBC's into stiff crescents that get stuck inside the blood vessels as the blockage leads to pain and organ damage.
A version of a SNP, one of the genes that makes the clump prone type of hemoglobin that leads to mishapen cells causes sickle cell anemia. People with two copies of the version of this SNP have the disease while people who with just one copy are carriers but they do not usually have any symptoms of disease.
2. One benefit about personal genetic testing that you learned that early identification and treatment greatly improved health and life expectancy. One concern about personal genetic testing may open up ethical or psychological problem.
3. If I could undergo personal genetic testing from 23andMe for free, I would do it because it may provide additional information about the increased risk from developing the disease. It may also provide relief from anxiety if I learn that I do not carry an altered gene.
A version of a SNP, one of the genes that makes the clump prone type of hemoglobin that leads to mishapen cells causes sickle cell anemia. People with two copies of the version of this SNP have the disease while people who with just one copy are carriers but they do not usually have any symptoms of disease.
2. One benefit about personal genetic testing that you learned that early identification and treatment greatly improved health and life expectancy. One concern about personal genetic testing may open up ethical or psychological problem.
3. If I could undergo personal genetic testing from 23andMe for free, I would do it because it may provide additional information about the increased risk from developing the disease. It may also provide relief from anxiety if I learn that I do not carry an altered gene.
Saturday, March 13, 2010
Fanconi Anemia
Fanconi Anemia mainly causes failure of the bone marrow to produce red blood cells, but can also cause skeletal malformations, skin discoloration and low birth weight. 23and me tests for FANCC, which is the gene that repairs damage to DNA. FANCC is tested to look for three mutations: IVS4+4A>T, R548X and 322delG.
I think a benefit for genetic testing would be find out if you are at a greater risk for a life threatening disease. Some people can make better decisions about their lives and how they can better themselves and their families. One concern to genetic testing would be that someone wouldn't take the news too well and would end their life because of what they found out. I probably would do the testing if I had an option of having it done for free. I would especially like to know what my risk factors for cancer were because I think it would better prepare me and I could make some changes to my lifestyle health wise. I also would change how I lived my life like not worry about the small stuff or try things I would normally be afraid to try. We all say life is short and we should live our life to the fullest, but I don't think someone does until they really know how short life really is.
I think a benefit for genetic testing would be find out if you are at a greater risk for a life threatening disease. Some people can make better decisions about their lives and how they can better themselves and their families. One concern to genetic testing would be that someone wouldn't take the news too well and would end their life because of what they found out. I probably would do the testing if I had an option of having it done for free. I would especially like to know what my risk factors for cancer were because I think it would better prepare me and I could make some changes to my lifestyle health wise. I also would change how I lived my life like not worry about the small stuff or try things I would normally be afraid to try. We all say life is short and we should live our life to the fullest, but I don't think someone does until they really know how short life really is.
Friday, March 12, 2010
Connexin 26-related sensorineural hearing loss
1. Between 1 and 3 out of every 1000 children born have some type of hearing loss. Nonsyndromic sensorineural hearing loss (NSHL) due to genetic causes can be caused by mutations in many different genes, including GJB2. 23andMe reports data for two GJB2 mutations — 35delG and 167delT.This gene encodes a protein called connexin 26. mutations in GJB2 is present from birth but can vary in severity, from moderate to profound. Nonsyndromic accounts for 70% of all genetic cases.More than 90 mutations that can lead to deafness come from the gene GJB2. Mutations reported by 23 and me is inherited in a ressesive manner.Even if your data indicate you are not a carrier you may still have a mutation (in GJB2 or another gene) or be affected by NSHL.
2.There can be both benefits and consequences/concerns that can come from personal genetic testing. One benefit of the testing can be you learning what you are at risk for and then being able to take the nessecary precautions, one being maybe if you kno that you are a carrier of a gene that would really affect a child then you can make sure that you dont have a child with a mate that carries the same trait. A concern that can come from getting genetic personal testing done is that some people may become depressed or angry from their result because they may find out that they will develope a diease that leads to a really hard life to live.
3. If I could undergo personal genetic testing from 23and me for free I still would not get it done.I wouldn't get the testing done because I feel like there is not a lot I can do if I were to find something out and im not sure how I would take bad news, so I will stay away from the testing.
2.There can be both benefits and consequences/concerns that can come from personal genetic testing. One benefit of the testing can be you learning what you are at risk for and then being able to take the nessecary precautions, one being maybe if you kno that you are a carrier of a gene that would really affect a child then you can make sure that you dont have a child with a mate that carries the same trait. A concern that can come from getting genetic personal testing done is that some people may become depressed or angry from their result because they may find out that they will develope a diease that leads to a really hard life to live.
3. If I could undergo personal genetic testing from 23and me for free I still would not get it done.I wouldn't get the testing done because I feel like there is not a lot I can do if I were to find something out and im not sure how I would take bad news, so I will stay away from the testing.
Wednesday, March 10, 2010
Crohn's Disease
1. Crohn's disease is a chronic inflammatory disease of the intestines. It causes ulcerations in the small and large intestines, but can affect the digestive system anywhere between the mouth and the anus. Cramping, bleeding and diarrhea are symptoms. It is thought that 50-60% of people with Crohn's Disease did inherit it. This estimate is a little more than people who get the disease by environmental factors. This disease has increased over the last half century, which could mean that the modern lifestyle today may have triggered new environmental reasons for Crohn's Disease. Antigens and foreign substances from diet or from bacteria in your stomach may start an inflammation.
This abnormally active immune system is believed to be genetically inherited. First degree relatives of patients with Crohn's disease are more likely to develop the disease. Furthermore, certain chromosome markers have been found in patients with Crohn's disease. The gene NO2 encodes a protein that regulates process of programmed cell death, apoptosis. The function is to recognize the bacteria components that enter a type of immune cell, which gives a signal to the rest of the immune system. The official symbol of this gene is NO2, Gene ID #64127, located on Chromosome 16.
2. Benefit of genetic testing: By knowing the odds of their having an affected child, families can make better-informed decisions and possibly explore options for starting a healthy family.
Concern of testing:Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. People may feel angry, depressed, anxious, or guilty about their results.
3. Yes, if I could afford to have the genetic testing done, I would probably have the test. It would be nice to know what diseases that I am predisposed to. I already know that heart disease runs in my family, so why not verify the possibility of obtaining that disease and begin changing my lifestyle to live longer.
This abnormally active immune system is believed to be genetically inherited. First degree relatives of patients with Crohn's disease are more likely to develop the disease. Furthermore, certain chromosome markers have been found in patients with Crohn's disease. The gene NO2 encodes a protein that regulates process of programmed cell death, apoptosis. The function is to recognize the bacteria components that enter a type of immune cell, which gives a signal to the rest of the immune system. The official symbol of this gene is NO2, Gene ID #64127, located on Chromosome 16.
2. Benefit of genetic testing: By knowing the odds of their having an affected child, families can make better-informed decisions and possibly explore options for starting a healthy family.
Concern of testing:Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. People may feel angry, depressed, anxious, or guilty about their results.
3. Yes, if I could afford to have the genetic testing done, I would probably have the test. It would be nice to know what diseases that I am predisposed to. I already know that heart disease runs in my family, so why not verify the possibility of obtaining that disease and begin changing my lifestyle to live longer.
Bloom's Syndrome
1. Bloom's syndrome is caused by mutations in the BLM gene. Bloom's syndrome is a rare inherited disorder characterized by multiple breaks and rearrangements in a person's chromosomes. This DNA damage greatly increases the risk of developing many cancers early in life. Recurrent infections, chronic pulmonary disease, skin discoloration and type 2 diabetes are also common complications of Bloom's syndrome.
2. Genetic testing is important because a person must inherit a mutated copy of this gene from each parent in order to have the disorder. It would be smart to be tested prior to deciding on having a child in order to prevent the posibility of him or her having Bloom's syndrome.
3. I would get tested for free from 23andMe. It would make me more careful about food choices and encourage me to exercise and stay heathy so i can attempt to beat whatever disease it said I MIGHT get..
2. Genetic testing is important because a person must inherit a mutated copy of this gene from each parent in order to have the disorder. It would be smart to be tested prior to deciding on having a child in order to prevent the posibility of him or her having Bloom's syndrome.
3. I would get tested for free from 23andMe. It would make me more careful about food choices and encourage me to exercise and stay heathy so i can attempt to beat whatever disease it said I MIGHT get..
Monday, March 1, 2010
Crohn's disease
1. Crohn's disease is a disorder causing inflammation of the digestive tract. Inflammation causes pain and usually makes intestines to empty frequently, causing diarrhea.
2. The gene name is NOD2 nucleotide-binding oligomerization domain containing 2. The gene id is 64127.
3. Protein is found in blood plays important role in immune response by recognizing muramyl dipeptide (MDP) and by activation of NFKB protein.
Subscribe to:
Posts (Atom)