Items Tagged ‘diagnostic odyssey’
November 30, 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: diagnostic odyssey, Dr. Eric Klee, Dr. Konstantinos Lazaridis, gene sequencing, mayo clinic, Mayo Clinic Center for Individualized Medicine, translational omics
April 12, 2016
Center for Individualized Medicine Explores WGS, Diagnostic Exomes, PGx Analysis, Gene Panels
By Jeff Briggs 
The Mayo Clinic Center for Individualized Medicine, or CIM as we like to say, has been rolling out genomic testing for its patients, integrating genomics into electronic medical records, and participating in clinical trials that focus on delivering personalized medicine. Keith Stewart, M.B., Ch.B., the Carlson and Nelson Endowed Director of the Center for Individualized […]
Tags: Biobank, center for individualized medicine, diagnostic odyssey, Dr. Keith Stewart, gene panels, GenomeWeb, PGx, Pharmacogenetics, whole exome sequencing, whole genome sequencing
January 5, 2016
Watching Over Patients With Angelman Syndrome
By Jeff Briggs
The diagnostic odyssey of a patient with a rare disease has been described as making a journey through a maze, a journey of wrong turns, dead ends and false starts. Sometimes even a diagnosis provides no clear direction. As in the case of Stephanie Hays, whose son, Bo, was diagnosed by geneticists at Mayo Clinic […]
Tags: Angelman syndrome, Angelman Syndrome Foundation, CGC, diagnostic odyssey, Dr. Ralitza Gavrilova, Genetic Testing, mayo clinic, rare disease, Sarah Mets
December 29, 2015
Delivering on the Promise of Precision Medicine: 2015 Year in Review
By Jeff Briggs
2015 was the year of precision medicine. “Individualized medicine is already providing profound changes in how we treat patients,” said Keith Stewart, M.B., Ch.B., the Carlson and Nelson Endowed Director of the Center for Individualized Medicine, as he opened the 2015 Individualizing Medicine Conference. “It is offering hope to people who had no hope, […]
Tags: Biobank, biomarkers, breast cancer, center for individualized medicine, diagnostic odyssey, Dr. Aleksandar Sekulic, Dr. J. Craig Venter, Dr. Keith Stewart, Dr. Konstantinos Lazaridis, Dr. Richard Weinshilboum, Genome Sequencing, Gianrico Farrugia
November 16, 2015
Diagnosing Rare Diseases Through Individualized Medicine
By Jeff Briggs
Many of the patients referred to Mayo Clinic’s Individualized Medicine Clinic have been on a diagnostic odyssey that can make navigating a maze seem simple. They have experienced a protracted and arduous journey of questions, uncertainties, and fear to find answers about rare medical conditions they suffer from. For some people this frustrating and scary […]
Tags: center for individualized medicine, diagnostic odyssey, Dr. Andrew Engel, Dustin Bennett, individualized medicine, Individualized Medicine Clinic, Precision Medicine, rare disease, Stacy Carlson, whole genome sequencing
October 30, 2015
Lifetime of Seeking Rewarded with a Diagnosis
By Jeff Briggs
Stacy Carlson was born with congenital myasthenic syndrome, and, although she received a number of opinions throughout her life, it wasn’t until age 44 that she received a definitive diagnosis. Her local physician referred Stacy to Mayo Clinic’s Andrew Engel, M.D., whose work in whole exome sequencing to identify novel muscular dystrophy mutations has been […]
Tags: center for individualized medicine, congenital myasthenic syndrome, diagnostic odyssey, DNA Testing, Dr. Andrew Engel, Dx, individualized medicine, muscular dystrophy, Precision Medicine, Stacy Carlson