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Phoenix genomics research homes in on rare disorders

PHOENIX — Forget casual Fridays — Thursday is the day to wear “genes” to work in honor of World Rare Disorders Day.

In the Valley, scientists at TGen showed up to work wearing their jeans, “In recognition of the fact that an estimated 80 percent of rare disorders are caused by mutations in our genes,” said Dr. Matt Huentelman with the Center for Rare Childhood Disorders.

He said Phoenix-based TGen has made strides over the past decade in helping doctors approach puzzling cases.

“Because we’re able to look across the genome and we can examine all the different biochemical pathways that physician would order tests for, but we can do it all at once.”

This year, Huentelman said doctors are focusing on sequencing the genome — the blueprint of each patient’s rare disorder — sooner rather than later. By doing so, he said, it will help the patients and their families find solutions faster, and it will significantly cut costs of managing rare diseases.

Ten years from now, Huentelman imagines every newborn will have a complete genome sequence ID, which will allow doctors to personalize their medical needs before a rare disease becomes a threat down the road.


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