Items Tagged ‘diagnostic odyssey’

Center for Individualized Medicine Explores WGS, Diagnostic Exomes, PGx Analysis, Gene Panels

April 12, 2016

Center for Individualized Medicine Explores WGS, Diagnostic Exomes, PGx Analysis, Gene Panels

By Jeff Briggs JeffreyBriggs

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 […]

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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 JeffreyBriggs

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 […]

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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 JeffreyBriggs

  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, […]

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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 JeffreyBriggs

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 […]

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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 JeffreyBriggs

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 […]

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Tags: center for individualized medicine, congenital myasthenic syndrome, diagnostic odyssey, DNA Testing, Dr. Andrew Engel, Dx, individualized medicine, muscular dystrophy, Precision Medicine, Stacy Carlson


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