Vaccines, Blood & Biologics Resources for You Synonymous
(“Silent”) Mutations in Health, Disease, and Personalized
Medicine: Review Ongoing discoveries into how synonymous (often
erroneously referred to as “silent”) genetic mutations affect
human disease could improve the practice of clinical medicine,
according to a review of the field by CBER researchers. The
article, by Zuben Sauna and Chava Kimchi-Sarfaty, appears in the
October 2011 issue of Nature Reviews Genetics. The authors show
that research findings published over the past five years
describing synonymous mutations contribute to medical practice
in three important ways. The first is the recognition that
synonymous mutations can cause human diseases; thus, synonymous
mutations cannot be ignored in Genome Wide Association Studies
(studies of all or most genes of individuals to determine the
amount of genetic variation that exists among individuals).
Second, single nucleotide polymorphisms (SNPs: variations in
single DNA building blocks of a gene) rep