In this assignment you will choose and research a particular genetic disease or syndrome, and write a short paper about the history, symptoms, genetic basis, and intracellular details.
History of the disease: when was the disease discovered? Who discovered it? How has our knowledge progressed over time in understanding this disease?
Clinical symptoms: what are the symptoms? What is the prognosis, what are the current treatments available? Who is typically affected by this disease? Ages? Other demographic info?
Genetic basis: what chromosome is the disease mapped to? What gene? What is the inheritance pattern? what risk factors are associated? Other genetic components to the disease?
Cellular basis: what is the normal function of the protein(s) involved with the disease? What are the abnormal functions? Basically, what is known about the cause of the clinical symptoms on a cellular level? (If some of this is still unknown, you can tie this section in with the next section.) Unknown as I ects of the disease: What is still unknown about the disease? What is still unclear? Even if many details are known about the disease, look at the introductions of recent papers to find out what we still don’t know about the disease, there’s always something!