Assignment
Familial Cold Autoinflammatory Syndrome (FCAS)
1) Introduction:
a) What is the disease and how did it come about?
b) Describe the effect that the mutated gene has at the molecular or cellular level to produce an abnormal phenotype in the whole organism.
2) Causes:
a) What are the causes of this genetic disease?
b) What kind of mutation causes the change (transition, transversion, frame-shift; specifics)? What effect does the mutation have on the protein (if a protein-coding gene)?
c) Are there multiple varieties of mutations or just one that leads to the phenotype.
3) Data/pedigree:
a) The pattern of inheritance (autosomal, sex-linked, dominant, recessive, other?).
b) Do environmental factors modify the effect? Find some data/graphs on this disease.
c) Locate or create a pedigree with at least 4 generations that demonstrates the pattern of the phenotype (use correct symbols for the pedigree).
d) Does testing exist for this trait? Is it DNA-based or biochemical? When can testing occur?
e) genetic counseling of a proposed mating between individuals that may produce offspring with the condition?
f) you will need to figure out what a genetic counselor is and what they do to address this point?
4) Genetic Treatments: no specific treatments, just temporary:
a) Are there effective treatments? Or are there some new technologies on the way?
b) Are there effective treatments? Or are there some new technologies on the way?
c) Are there effective treatments? Or are there some new technologies on the way?
d) How common is the trait? (population genetics).
5) Conclusion.
6) Reference.