BIOLOGY 287 Chapter : Genetic Disorder Rubric.doc

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blushbadger787

12 Oct 2014

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Genetic disease/disorder - role playing/research rubric (50 points) Explained clearly with all required information (10 pts) Missing no more than 1 piece of information and/or not explained with complete clarity (8 points) Missing no more than 1 piece of information and/or not very clear in explaining information (6 points) Missing 2 pieces of information and lacking true clarity in explanation (4 points) Missing several pieces of information and not clear in explanation (2 points) Concludes all information well without repeating (5 points) Conclusion is good, but shows repetitiveness once (4 points) Conclusion needs work and shows repetitiveness in more than 1 place (3 points) Conclusion does not summarize well at all (2 points) More than 1 resource utilized and in mla format and sites are reputable (5 points) 1 resource utilized, not in mla format, reputable sites (3 points) 1 resource utilized, not in mla format, not reputable sites (2 points)

Related Questions

General guidelines for completing the Assignment-1

1. You are required to work independently on one of the two cases listed for the assignment.

2. You may choose to search for the information online or in standard text books, research journals, online resources of biomedical research, pharmacogenomics knowledge base, etc.

3. You are required to list items of literature referred to at the end of the narrative under the subheading âReferencesâ. You are encouraged to refer to the original research publications where applicable and cite in the text. Citations in the narrative should be numeric as per the list of references.

4. Please Be Independently Dependent on the resources.

5. Expectations in regards to the required key points of information, are provided for individual cases.

6. Limit the entire narrative to not more than two pages including references.

Timo is a healthy high school student with good dietary habits. He lives with his family in the suburbs of Lexington, KY. He started working part-time to save some money for an international travel that he is hoping to do after high school graduation. Timo has been experiencing lots of fatigue during his regular sport ever since he started working part-time that involves lots of physical activity. He has been very cautious about his diet; he has never missed multivitamins and five servings of veggies/fruits. Timo met with the family care physician. Following the checkup and lab tests, he was suggested to take an OTC product containing L-methyl folate regularly and was scheduled for followup. Timo felt better after taking the OTC product for two weeks however he wanted to see the provider to better understand his situation. He was suggested to continue taking the L-methyl folate especially when he feels fatigued. Furthermore he was given an option of genetic tests for a particular gene so that his condition could be better-explained with a long-term plan for self-care. Timoâs family could not support the genetic testing however he was strongly interested in knowing about his condition and how genes matter.

Investigate and synthesize pharmacogenomics of this case? Your narrative should contain but not limited to the following information:

1. What is the most relevant gene to be tested for variants in this individual? How many genetic variants for this particular gene are reported? What are the major variants? 2 points

2. What is the prevalence of major variants in different ethnic groups? 2 points

3. Describe the molecular and phenotypic characteristics of the mutations (nucleotide or amino acid switch) in the major variants? 2 points

4. What happens if this individual is given folic acid continuously instead of L-methyl folate? (list and discuss in context not more than two clinical conditions excluding fatigue) 2 points

5. The individual has good dietary habits. Would the folate derived from diet be not sufficient to overcome the condition of the individual? Yes or No, explain. 2 points.

Chronic Diarrhea in a Traveler

Patient History

A 21-year-old male presents with a 6-week history of watery diarrhea and crampy abdominal pain. He reports that the diarrhea has not been constant and has alternated with periods of constipation. For the past 2 weeks, the diarrhea has been blood streaked, and he has had several weeks of mid-epigastric pain. He spent the last 6 months in a rural community in Guatemala participating in a community service project sponsored by his college. He returned from Guatemala just 10 days ago. While there, he drank the water and ate the food available in the local community, and he did not regularly boil the water for drinking. He denies antibiotic exposure but was taking mefloquine weekly for malaria prophylaxis. Two separate stool specimens taken by student health when he returned were reported as negative for Salmonella, Shigella, Campylobacter, E. coli 0157:H7, Yersinia, Aeromonas, and Plesiomonas, as well as Giardia lamblia. On physical examination, he appeared well-nourished and well-developed but reported an 8â10 pound weight loss. He was afebrile with a blood pressure of 110/80 mm Hg, pulse rate of 84/min, respirations of 14/min, and his lungs were clear. The abdominal examination was significant for tenderness localized to the right upper quadrant without rebound tenderness, but no mass or hepatomegaly was appreciated.

Travelerâs diarrhea is loose, watery diarrhea that occurs within the first week of arriving in a new country. The diarrhea is usually accompanied by nausea, vomiting, abdominal cramps, and fever; however, the disease is self-limited, and the average length of illness is 3â5 days. Because his symptoms have persisted for 6 weeks, the patient is unlikely to have travelerâs diarrhea. Infectious and noninfectious causes include bacteria, parasites, ulcerative colistis, diverticulitis, and carcinoma. As the symptoms have persisted longer than a week, consider parasites as an infectious cause.

Assignment

Provide a 1-page report on this case study. For the report, describe methods of appropriate specimen collection, examination of specimen, and a likely causative agent.

For the causative agent, describe pathogenesis of the organism, treatment, and prevention.

Under pathogenesis, describe how the agent is acquired, its reservoir, its life cycle, likely hosts, and infection process.

carminereindeer124

General guidelines for completing the Assignment-1

1. You are required to work independently on one of the two cases listed for the assignment.

2. You may choose to search for the information online or in standard text books, research journals, online resources of biomedical research, pharmacogenomics knowledge base, etc.

4. Please Be Independently Dependent on the resources.

5. Expectations in regards to the required key points of information, are provided for individual cases.

6. Limit the entire narrative to not more than two pages including references.

Two year-old Sasha is brought into ER with high fever and high respiratory rate. Upon thorough check-up sepsis was suspected. Blood cultures and laboratory studies are obtained and the child is moved to the intermediate care unit for i.v. antibiotics. After realizing the recommendation, the mother tells the care team that she has hearing loss that had occurred when she received antibiotics during her elementary school years though she doesnât remember what the medication was. Vaguely recalls something âsounds like mycinâ. She is very concerned that this could happen to her child and requests that the baby be checked out. Care team immediately looks into the possible gene-drug interaction and to choose a right antibiotic for Sasha.

Investigate and synthesize pharmacogenomics of this case? Your narrative should contain but not limited to the following information:

1. What is the most relevant gene to be tested for variants in the child? How many genetic variants for this particular gene are reported? What are the major variants? 2 points

2. What is the prevalence of major variants in different ethnic groups? 2 points

3. Describe the molecular and phenotypic characteristics of the mutations (nucleotide or amino acid switch) in the major variants? Answer should include but not limited to the following: cellular localization of the variant of interest is located, how does it interact with antibiotics, how does this interaction lead to hearing loss. 3 points

4. Comment on the pattern of inheritance of the variant. 1 point

5. Given the fact that the genetic information is not available for the patient, who is in need of immediate therapy, what would be a right choice of antibiotic that would not cause deafness.

BIOLOGY 287 Chapter : Genetic Disorder Rubric.doc

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