August 8, 2022
Meet Moein Enayati, Ph.D., expertly employing artificial intelligence to improve health care
Vast quantities of data and information exist within health care. Moein Enayati, Ph.D., is a research associate in health care systems engineering in the Mayo Clinic Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery. With his research, Dr. Enayati aims to make sense of such health-related data. “I came […]
Tags: Adelaide Arruda-Olson, AHRQ, artificial intelligence, big data, cardiology, cardiovascular medicine, Center for the Science of Health Care Delivery, Che Ngufor, clinical informatics, diversity, emergency department, Eric Klee
February 16, 2022
Mayo Clinic develops automated system to accelerate diagnoses for patients with rare diseases
By Susan Murphy
Mayo Clinic researchers are working to accelerate the diagnoses of rare diseases and renew hope for patients whose symptoms have defied an explanation ― sometimes for years or even decades. The team of genomics experts has developed an automated system called RENEW for tracking new scientific knowledge from around the world of pathogenic genetic variants and […]
Tags: Alejandro Ferrer, biomedical informatics, Center for Individualized Medicine, Eric Klee, genomics, hematology, rare disease
February 10, 2021
Researchers define best practices of genome sequencing for patients with rare diseases
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 […]
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
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 […]
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
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. […]
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
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 […]
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