Disease Diagnosed By Gene Sequence

This is such a cool application of genetics! By sequencing all the genes of a patient, scientists diagnosed a congenital disease that could not be identified using clinical observations. Because of the “molecular diagnostics technique”, doctors were able to provide a treatment tailored for the disease.

  The patient, an infant, was persistently dehydrated and failing to gain weight, and researchers uncovered a gene mutation that was responsible to the infant’s condition called congenital chloride diarrhea. Instead of sequencing all the thousand base pairs in a genome, researchers focused only on DNA that encodes proteins, about 1% of the total genome. DNA mutations in this region can result in a nonfunctional protein, and would have far-ranging effects on health. According to HHMI.org, about 85% of mutations have a major clinical effects so it made sense for the scientists to begin searching for the disease-causing mutation in this region.

Researchers from Howard Hughes Medical Institute (HHMI) used this knowledge and their efforts were rewarded! The study appears this week in the Proceedings of the National Academy of Sciences.

Image: Newscom