17. Parents Jacob and Emma have had two children, Samuel and Matthew. Baby Samuel died at the age of nine days. When baby Matthew has trouble feeding, his parents take him in to the doctor. He is diagnosed with Maple Syrup Urine Disease (MSUD), a life-threatening condition in which the patient is not able to break down proteins from their food. As Matthew receives treatment, Jacob and Emma are referred to a genetic counselor. The genetic counselor collects information about their family. Neither of Jacob's parents were affected by MSUD. Jacob had one brother and three sisters. One of these sisters died shortly after birth. Similarly, neither of Emma's parents were affected by MSUD. Emma had four brothers, and two of these died shortly after birth. a. Given what you know about Jacob and Emma's family, construct a pedigree that includes all three generations.
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- 17. Parents Jacob and Emma have had two children, Samuel and Matthew. Baby Samuel died at the age of nine days. When baby Matthew has trouble feeding, his parents take him in to the doctor. He is diagnosed with Maple Syrup Urine Disease (MSUD), a life-threatening condition in which the patient is not able to break down proteins from their food. As Matthew receives treatment, Jacob and Emma are referred to a genetic counselor. The genetic counselor collects information about their family. Neither of Jacob's parents were affected by MSUD. Jacob had one brother and three sisters. One of these sisters died shortly after birth. Similarly, neither of Emma's parents were affected by MSUD. Emma had four brothers, and two of these died shortly after birth. a. Given what you know about Jacob and Emma's family, construct a pedigree that includes all three generations.A 45-year-old woman undergoes genetic testing and discovers that she is at high risk for developing colon cancer and Alzheimer disease. Because her children have 50% of her genes, they may also be at an increased risk for these diseases. Does she have a moral or legal obligation to tell her children and other close relatives about the results of her genetic testing?The Meeting Sarah stared blankly at the blue paisley wallpaper. Her husband Mike sat by her side, bending and unbending a small paper clip. “Sarah and Michael, it’s good to meet you,” welcomed the genetic counselor, as she entered the room. “I apologize for being late, but I was just meeting with another couple. Let’s see, you’d like to have a child, but you’re concerned because of your family history of cystic fibrosis.” “Yes,” Sarah replied softly. “Mike and I met at a CF support group meeting a few years ago. He had a younger brother who died of cystic fibrosis, and I had a younger sister. We saw the painful lives they had—difficulty breathing, the constant respiratory infections. Although the treatments for CF are better now, we just don’t know if we can…” she trailed off. “I can certainly understand your concern,” the genetic counselor responded sympathetically. “That’s where I hope to help, by providing as much information and advice as I can. I’m glad that you came to see me…
- Please Write a Brief Note on "Treatment for the genetic disorders by using gene therapy " Please write at your own words, please...A couple comes into the family counseling center and wants information on genetic counseling. They are thinking of starting a family but the wife has a family history of Tay Sachs disease. Kieran is a genetic counselor who will explain the services available at the center. Kieran’s discussion will include genetic mutation, tests that may be done during pregnancy, and advances being made in genetic therapy. Have Kieran explain genetic mutation to the couple. What are the possibilities of their having a child born with Tay Sachs disease?A couple comes into the family counseling center and wants information on genetic counseling. They are thinking of starting a family but the wife has a family history of Tay Sachs disease. Kieran is a genetic counselor who will explain the services available at the center. Kieran’s discussion will include genetic mutation, tests that may be done during pregnancy, and advances being made in genetic therapy. What information can Kieran give the couple regarding the services of the genetic counseling center?
- How can you treatment for the genetic disorders by using gene therapy? Please answer at your own words, please..A couple comes into the family counseling center and wants information on genetic counseling. They are thinking of starting a family but the wife has a family history of Tay Sachs disease. Kieran is a genetic counselor who will explain the services available at the center. Kieran’s discussion will include genetic mutation, tests that may be done during pregnancy, and advances being made in genetic therapy. What information can be given to the couple regarding advances being made in gene therapy?James sees an online ad for an at-home genetic test that promises to deliver personalized nutritional advice based on an individuals genetic profile. The company can test for genetic variations, the advertisement states, that predispose individuals to developing health conditions such as heart disease and bone loss or that affect how they metabolize certain foods. If such variations are detected, the company can provide specific nutritional advice that will help counteract their effects. Always keen to take any steps available to ensure the best possible health for their family, James and his wife (Sally) decide that they both should be tested, as should their 11-year-old daughter (Patty). They order three kits. Once the kits arrive, the family members use cotton swabs to take cell samples from their cheeks and place the swabs in individually labeled envelopes. They mail the envelopes back to the company, along with completed questionnaires regarding their diets. Four weeks later, they receive three individual reports detailing the test results and providing extensive guidelines about what foods they should eat. Among the results is the finding that James has a particular allele in a gene that may make him vulnerable to the presence of free radicals in his cells. The report suggests that he increase his intake of antioxidants, such as vitamins C and E, and highlights a number of foods that are rich in those vitamins. The tests also show that Sally has several genetic variations that indicate that she may be at risk for elevated bone loss. The report recommends that she try to minimize this possibility by increasing her intake of calcium and vitamin D and lists a number of foods she could emphasize in her diet. Finally, the report shows that Patty has a genetic variation that may mean that she has a lowered ability to metabolize saturated fats, putting her at risk for developing heart disease. The report points to ways in which she can lower her intake of saturated fats and lists various types of foods that would be beneficial for her. A number of companies now offer genetic-testing services, promising to deliver personalized nutritional or other advice based on peoples genetic profiles. Generally, these tests fall into two different categories, with individual companies offering unique combinations of the two. The first type of test detects alleles of known genes that encode proteins that play an established role in, for example, counteracting free radicals in cells or in building up bone. In such cases, it is easy to see why individuals carrying alleles that may encode proteins with lower levels of activity may be more vulnerable to free radicals or more susceptible to bone loss. A second type of test examines genetic variations that may have no clear biological significance (i.e., they may not occur within a gene or may not have a detectable effect on gene activity) but have been shown to have a statistically significant correlation with a disease or a particular physiological condition. For example, a variation may frequently be detected in individuals with heart disease even though the reason for the correlation between the variation and the disease may be entirely mysterious. Do James and Sally have any guarantees that the tests and recommendations are scientifically valid?
- James sees an online ad for an at-home genetic test that promises to deliver personalized nutritional advice based on an individuals genetic profile. The company can test for genetic variations, the advertisement states, that predispose individuals to developing health conditions such as heart disease and bone loss or that affect how they metabolize certain foods. If such variations are detected, the company can provide specific nutritional advice that will help counteract their effects. Always keen to take any steps available to ensure the best possible health for their family, James and his wife (Sally) decide that they both should be tested, as should their 11-year-old daughter (Patty). They order three kits. Once the kits arrive, the family members use cotton swabs to take cell samples from their cheeks and place the swabs in individually labeled envelopes. They mail the envelopes back to the company, along with completed questionnaires regarding their diets. Four weeks later, they receive three individual reports detailing the test results and providing extensive guidelines about what foods they should eat. Among the results is the finding that James has a particular allele in a gene that may make him vulnerable to the presence of free radicals in his cells. The report suggests that he increase his intake of antioxidants, such as vitamins C and E, and highlights a number of foods that are rich in those vitamins. The tests also show that Sally has several genetic variations that indicate that she may be at risk for elevated bone loss. The report recommends that she try to minimize this possibility by increasing her intake of calcium and vitamin D and lists a number of foods she could emphasize in her diet. Finally, the report shows that Patty has a genetic variation that may mean that she has a lowered ability to metabolize saturated fats, putting her at risk for developing heart disease. The report points to ways in which she can lower her intake of saturated fats and lists various types of foods that would be beneficial for her. A number of companies now offer genetic-testing services, promising to deliver personalized nutritional or other advice based on peoples genetic profiles. Generally, these tests fall into two different categories, with individual companies offering unique combinations of the two. The first type of test detects alleles of known genes that encode proteins that play an established role in, for example, counteracting free radicals in cells or in building up bone. In such cases, it is easy to see why individuals carrying alleles that may encode proteins with lower levels of activity may be more vulnerable to free radicals or more susceptible to bone loss. A second type of test examines genetic variations that may have no clear biological significance (i.e., they may not occur within a gene or may not have a detectable effect on gene activity) but have been shown to have a statistically significant correlation with a disease or a particular physiological condition. For example, a variation may frequently be detected in individuals with heart disease even though the reason for the correlation between the variation and the disease may be entirely mysterious. Do you think that companies should be allowed to market such tests directly to the public, or do you believe that only a physician should be able to order them?James sees an online ad for an at-home genetic test that promises to deliver personalized nutritional advice based on an individuals genetic profile. The company can test for genetic variations, the advertisement states, that predispose individuals to developing health conditions such as heart disease and bone loss or that affect how they metabolize certain foods. If such variations are detected, the company can provide specific nutritional advice that will help counteract their effects. Always keen to take any steps available to ensure the best possible health for their family, James and his wife (Sally) decide that they both should be tested, as should their 11-year-old daughter (Patty). They order three kits. Once the kits arrive, the family members use cotton swabs to take cell samples from their cheeks and place the swabs in individually labeled envelopes. They mail the envelopes back to the company, along with completed questionnaires regarding their diets. Four weeks later, they receive three individual reports detailing the test results and providing extensive guidelines about what foods they should eat. Among the results is the finding that James has a particular allele in a gene that may make him vulnerable to the presence of free radicals in his cells. The report suggests that he increase his intake of antioxidants, such as vitamins C and E, and highlights a number of foods that are rich in those vitamins. The tests also show that Sally has several genetic variations that indicate that she may be at risk for elevated bone loss. The report recommends that she try to minimize this possibility by increasing her intake of calcium and vitamin D and lists a number of foods she could emphasize in her diet. Finally, the report shows that Patty has a genetic variation that may mean that she has a lowered ability to metabolize saturated fats, putting her at risk for developing heart disease. The report points to ways in which she can lower her intake of saturated fats and lists various types of foods that would be beneficial for her. A number of companies now offer genetic-testing services, promising to deliver personalized nutritional or other advice based on peoples genetic profiles. Generally, these tests fall into two different categories, with individual companies offering unique combinations of the two. The first type of test detects alleles of known genes that encode proteins that play an established role in, for example, counteracting free radicals in cells or in building up bone. In such cases, it is easy to see why individuals carrying alleles that may encode proteins with lower levels of activity may be more vulnerable to free radicals or more susceptible to bone loss. A second type of test examines genetic variations that may have no clear biological significance (i.e., they may not occur within a gene or may not have a detectable effect on gene activity) but have been shown to have a statistically significant correlation with a disease or a particular physiological condition. For example, a variation may frequently be detected in individuals with heart disease even though the reason for the correlation between the variation and the disease may be entirely mysterious. Do you think parents should be able to order such a test for their children? What if the test indicates that a child is at risk for a disease for which there is no known cure?James sees an online ad for an at-home genetic test that promises to deliver personalized nutritional advice based on an individuals genetic profile. The company can test for genetic variations, the advertisement states, that predispose individuals to developing health conditions such as heart disease and bone loss or that affect how they metabolize certain foods. If such variations are detected, the company can provide specific nutritional advice that will help counteract their effects. Always keen to take any steps available to ensure the best possible health for their family, James and his wife (Sally) decide that they both should be tested, as should their 11-year-old daughter (Patty). They order three kits. Once the kits arrive, the family members use cotton swabs to take cell samples from their cheeks and place the swabs in individually labeled envelopes. They mail the envelopes back to the company, along with completed questionnaires regarding their diets. Four weeks later, they receive three individual reports detailing the test results and providing extensive guidelines about what foods they should eat. Among the results is the finding that James has a particular allele in a gene that may make him vulnerable to the presence of free radicals in his cells. The report suggests that he increase his intake of antioxidants, such as vitamins C and E, and highlights a number of foods that are rich in those vitamins. The tests also show that Sally has several genetic variations that indicate that she may be at risk for elevated bone loss. The report recommends that she try to minimize this possibility by increasing her intake of calcium and vitamin D and lists a number of foods she could emphasize in her diet. Finally, the report shows that Patty has a genetic variation that may mean that she has a lowered ability to metabolize saturated fats, putting her at risk for developing heart disease. The report points to ways in which she can lower her intake of saturated fats and lists various types of foods that would be beneficial for her. A number of companies now offer genetic-testing services, promising to deliver personalized nutritional or other advice based on peoples genetic profiles. Generally, these tests fall into two different categories, with individual companies offering unique combinations of the two. The first type of test detects alleles of known genes that encode proteins that play an established role in, for example, counteracting free radicals in cells or in building up bone. In such cases, it is easy to see why individuals carrying alleles that may encode proteins with lower levels of activity may be more vulnerable to free radicals or more susceptible to bone loss. A second type of test examines genetic variations that may have no clear biological significance (i.e., they may not occur within a gene or may not have a detectable effect on gene activity) but have been shown to have a statistically significant correlation with a disease or a particular physiological condition. For example, a variation may frequently be detected in individuals with heart disease even though the reason for the correlation between the variation and the disease may be entirely mysterious. What kinds of regulations, if any, should be in place to ensure that the results of these tests are not abused?