Genetic Disease Juanita Saenz, Jackie Flynn, Christine Nguyen, Megan Truong, Neelum Iftikhar Fab Five

In the real world, there is no "normal" human DNA to make comparisons with. In order for a mutation to be considered “bad news”, the mutation needs to have at least one of the following characteristics: it occurs in a relevant gene, it occurs in an important place, it occurs in a conserved place, or it is a rare occurrence. To classify types of mutations, one must know at least one of the following: patient data, biochemical data, or genetic data. There is a higher likelihood that a mutation in a highly conserved DNA sequence will cause damage to an organism. If a mutation phenotype type is dominant, it is either because of neomorphyism or haplo-insufficiency. One can not be sure of a mutation's effect based solely on one set of DNA. Several pieces of patient genetic data are needed.

Questions If a mutation is rare, does that mean that it’s a recent disease since it hasn’t been selected out by Natural Selection? What are the specific differences within the human patient data needed to classify mutations as pathogenic, implicated, or associated? If a disease causes more than one symptom then why is it not caused by mutations in multiple alleles?