Genomics
February 13, 2018
Genetic Sleuths Dig Deep to Identify a Young Boy’s Rare Condition
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.
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
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.
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
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.
Tags: Center for Individualized Medicine, Dr. Brendan Lanpher, Genetic testing
October 5, 2017
Teen Navigates Ehlers-Danlos Syndrome With the Help of Clinical Genomics
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.
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
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 […]