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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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About the Author


Holliday Moore is a Phoenix native with more than 25 years experience in the local and national broadcast and media industry. A graduate of ASU's journalism program, with a second major in Marketing & Management, she considers herself one of the lucky few to be doing exactly what she loves, writing and producing news.

In 2012, she won a prestigious Edward R. Murrow award for a light feature radio story on snakes. For the record, snakes do not say much! She is also honored to be one of two nominees this year for a Mark Twain Award involving her series on Arizona drowning cases.

Among her career accomplishments, Moore has taken home a television Emmy for Cultural Issues Reporting on the Navajo/Hopi Partition Land Act. She has also won numerous Emmy nominations for hard, soft and even sports reporting. However, Moore considers her highest achievement was on the day she received the prestigious Walter Cronkite Political Excellence Award for developing the Scripps Television stations' Democracy 2000 & 2002 program. Bob Morford, ABC 15's News Director at the time, asked Moore to head the project with one wish, "Try not to lose ratings," he said. "We not only did not lose ratings," says Moore, "We actually improved ratings between the coveted 5:00-6:30pm news block."

"She created, designed and executed the award winning program," recalls Morford, "Her efforts brought a great deal of notice and credit to our station."

Moore loves a challenge and is an adrenaline junky by nature. She ran 400 hurdles in college and more recently half marathons to raise thousands of dollars for the Leukemia & Lymphoma Society. She works part time for KTAR Radio while volunteering for her young son's elementary school and running a freelance media services business.

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