Medical Genetics Final Essay (200 points)
Instructor approval. Please email me with your topic and I will approve or suggest how to expand/ focus your topic of interest. (10 points)
The topic must be related to medical genetics. (20 points)
You must include references in the body of your essay and provide a list of your references at the end (in APA format). (10 points)
The essay should be 4 or 5 pages in length but no more than 7 pages. (10 points)
Suggestions:
While you certainly can research a particular disease and write about the disease phenotypes and genetic cause, there are many other topics you can chose.
Choose something that interests you or something you’ve always wondered about but never had the time to research.
Use your imagination when coming up with a topic!
Outline:
Part I: What was the question you wanted to answer? Why did you choose this topic? (10 points)
Part II: How does this topic relate to something you learned in class this semester? (10 points)
Part III: Discuss what information and published research you found to better understand your topic and answer your original question. This part will make up the bulk of your essay and should be written in an essay format. Make sure to include references as needed. (120 points)
Introduction.
Body. First Point. Second Point. Third Point.
Conclusion.
Part IV: What was the most interesting thing you learned from this exercise? (10 points)
Medical genetics is a branch of medicine that focuses on the study, diagnosis, and management of genetic disorders and inherited conditions. It encompasses a wide range of disciplines, including clinical genetics, molecular genetics, cytogenetics, and biochemical genetics. Medical geneticists are trained professionals who specialize in evaluating patients for genetic conditions, providing genetic counseling, and coordinating genetic testing and management.
One of the key roles of medical genetics is to identify individuals and families at risk for genetic disorders through comprehensive evaluation and family history assessment. This may involve analyzing patterns of inheritance, identifying potential genetic risk factors, and recommending appropriate genetic testing when indicated.
Genetic counseling is an integral component of medical genetics, wherein patients receive personalized information and support regarding the genetic basis of their condition, inheritance patterns, recurrence risks, and available management options. Genetic counselors work closely with patients and their families to help them make informed decisions about genetic testing, family planning, and medical management.
Advances in molecular genetics and genomic technologies have revolutionized the field of medical genetics, enabling more precise diagnosis, prognostication, and personalized treatment approaches for genetic conditions. Genetic testing techniques, such as next-generation sequencing, chromosomal microarray analysis, and whole exome sequencing, have significantly enhanced our ability to identify disease-causing genetic variants and understand the underlying mechanisms of genetic disorders.
