Items Tagged ‘Stacy Carlson’

February 25, 2016 · Leave a Comment

Giving Voice to Those with Rare Diseases

By Jeff Briggs Jeff Briggs (@JeffreyBriggs)

Join us in supporting Rare Disease Day on February 29 The news can hit like a tsunami, bringing devastation and grief when parents realize all the hopes and dreams they have for a child have been replaced by the words, “rare disease.” The news can also bring relief, the end of a diagnostic odyssey that […]

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Tags: Angelman syndrome, center for individualized medicine, Dustin Bennett, genomic medicine, individualized medicine, mayo clinic, personalized medicine, Precision Medicine, rare disease, Rare Disease Day, Stacy Carlson

November 16, 2015 · Leave a Comment

Diagnosing Rare Diseases Through Individualized Medicine

By Jeff Briggs 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 · Leave a Comment

Lifetime of Seeking Rewarded with a Diagnosis

By Jeff Briggs 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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