Sharing Mayo Clinic

Stories from patients, family, friends and Mayo Clinic staff

Genomics

February 13, 2018

Genetic Sleuths Dig Deep to Identify a Young Boy’s Rare Condition

By SharingMayoClinic SharingMayoClinic

When Karter Malcomson was born, his care team knew it was likely he had a genetic disorder. But a clear diagnosis was elusive. That’s when the functional genomics team at Mayo Clinic’s Center for Individualized Medicine went to work. And they didn’t give up until they had an answer.

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Tags: Center for Individualized Medicine, Clinical Genomics, Dr. Charu Kaiwar, Dr. Filippo Pinto e Vairo, Dr. Margot Cousin, Dr. Nicole Boczek, Dr. Pavel Pichurin


January 8, 2018

Uncovering a Life-Saving Diagnosis for Paige

By SharingMayoClinic SharingMayoClinic

Pain made it impossible for Paige Whorton to run and play with her friends, and no one could tell her why. Then a team at Mayo Clinic took a closer look and found a rare genetic disorder. That diagnosis has given Paige and her family renewed hope for the 12-year-old’s future.

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Tags: Center for Individualized Medicine, Department of Clinical Genomics, Dr. Brendan Lanpher, Dr. Erin Conboy, Dr. Filippo Pinto e Vairo


December 27, 2017

Genetic Testing Solves a Family Medical Mystery

By SharingMayoClinic SharingMayoClinic

When Jordyn LaMont was born with serious health concerns, it was a harrowing repeat of a situation her mother had lived through before. But this time, specialists at Mayo Clinic were able to get to the root of the problem and provide the family with answers.

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Tags: Center for Individualized Medicine, Dr. Brendan Lanpher, Genetic testing


October 5, 2017

Teen Navigates Ehlers-Danlos Syndrome With the Help of Clinical Genomics

By SharingMayoClinic SharingMayoClinic

After years of dealing with mysterious symptoms, Nicole Rickert was diagnosed with Ehlers-Danlos syndrome. Now she’s working with her team at Mayo Clinic to get the care she needs to move forward into a healthy future.

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Tags: Clinical Genomics, Dr. Radhika Dhamija, Ehlers-Danlos Syndrome


October 15, 2016

‘Excited About the Future Because I Have a Future’ — Finding an Answer Through Gene Sequencing

By SharingMayoClinic SharingMayoClinic

For 22 years, South Carolina native Brentney Simon and her family thought she was living with a fatal mitochondrial disease. From the time she was born, Brentney has faced a host of medical concerns. At first, her doctors didn’t think she would walk or talk. Brentney proved them wrong. But over the years, she struggled […]

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Tags: Center for Individualized Medicine, Gene Sequencing


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