Advancing the Science

Mayo Clinic Medical Science Blog – an eclectic collection of research- and research education-related stories: feature stories, mini news bites, learning opportunities, profiles and more from Mayo Clinic.

Items Tagged ‘Eric Klee’

February 10, 2021

Researchers define best practices of genome sequencing for patients with rare diseases

By Colette Gallagher Colette Gallagher

Genome sequencing has shown promise in becoming a first-tier diagnostic test for patients with rare genetic disorders, but standards addressing the definition and deployment of a best-in-class test are lacking. Two recent manuscripts published in npj Genomic Medicine present consensus recommendations on clinical genome sequencing analytical validation and clinical utility to diagnose patients with suspected genetic diseases, including practical advice for […]

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Tags: Brendan Lanpher, Center for Individualized Medicine, clinical research, Department of Laboratory Medicine and Pathology, Eric Klee, genetic testing, genetics, genomics, Hutton Kearney, Ross Rowsey


December 23, 2020

Mayo study shows gene sequencing, translational research improves diagnosis rates

By Colette Gallagher Colette Gallagher

Many patients with unsolved medical mysteries often undergo genetic testing, but the tests do not always provide a conclusive diagnosis. The term “diagnostic odyssey” describes the series of clinical consultations and testing that patients with undiagnosed disorders often receive in search of a genetic diagnosis. To help these patients, Mayo Clinic researchers embarked on a […]

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Tags: Center for Individualized Medicine, clinical research, diagnostic odyssey, Eric Klee, genetic testing, genome, Konstantinos Lazaridis, rare disease


May 7, 2019

Rare, undiagnosed diseases are relatively common

By Susan Buckles Susan Buckles

As many as 25 million Americans – about 1 in 13 people – suffer from a rare, undiagnosed condition.* April 29 was designated Undiagnosed Disease Day to raise awareness that collectively, rare diseases are relatively common. People with a rare disease often spend years visiting different medical providers and clinics seeking answers to unexplained conditions. […]

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Tags: Center for Individualized Medicine, Eric Klee, genome, Heidi Rehm, rare disease


September 19, 2017

CARING FOR KARTER–Genetic sleuths never give up hunt to identify Minnesota boy’s condition

By Colette Gallagher Colette Gallagher

Karter Malcomson coos and swivels his head when he hears his name in his mother’s reassuring voice. “You know we’re talking about you, don’t you?” Karter’s mom, Kerrie, says. “Karter is a very happy boy. He’s very content. He’s very interested in everything, especially people. He’s definitely a people person.” His father, Zane, spins Karter […]

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Tags: Center for Individualized Medicine, Charu Kaiwar, clinical informatics, collaboration, Eric Klee, genetic testing, genomics, Gianrico Farrugia, health sciences research, Margot Cousin, Nicole Boczek, Pavel Pichurin


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