Items Tagged ‘Angelman syndrome’

February 25, 2016

Giving Voice to Those with Rare Diseases

By 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like a tsunami, bringing devastation and grief when parents realize all the hopes and dreams they have for a child have been replaced by the words, “rare disease.”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


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


November 20, 2015

Inspiring Hope

By Jeff Briggs JeffreyBriggs

Let’s call her Hope. She offers big hugs, a radiant smile, beautiful eyes and a gleeful laugh that infects all who encounter her. She loves to feed the ducks at the lake and belly laughs at the antics of her favorite cartoon characters on television. But underneath all the beautiful things that make up the […]

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Tags: Angelman syndrome, Angelman Syndrome Foundation, center for individualized medicine, CGC, Dr. Ralitza Gavrilova, Marine Murphree, mayo clinic, Sarah Mets


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