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.
