Sequencing Protein-making Part of Genome Can Change Diagnosis
and Patient Care Joseph G. Gleeson, MD In the June 13 issue of
Science Translational Medicine, an international team led by
researchers from the University of California, San Diego School
of Medicine reports that the new technology of exome sequencing
is not only a promising method for identifying disease-causing
genes, but may also improve diagnoses and guide individual
patient care. In exome sequencing, researchers selectively and
simultaneously target and map all of the portions of the genome
where exons reside. Exons are short, critical sequences of DNA
in genes that are translated into proteins – the biological
workhorses involved in virtually every cellular function, plus
various structural or mechanical duties. The researchers, headed
by principal investigator Joseph G. Gleeson, MD, professor of
neurosciences and pediatrics at UC San Diego and Rady Children’s
Hospital-San Diego, sequenced the exomes of 118 patients who had
been diagnosed wit