Items Tagged ‘Center for Individualized Medicine’
December 28, 2018
Turning the Compass Toward New Understanding of Skin Disorders
A seasoned traveler, Lou Appignani relishes exploration and discovery. So when he was diagnosed with an inflammatory condition that affects his skin, he and his wife, Laurie, decided to contribute to medical research at Mayo Clinic to help dermatology experts unravel the mysteries behind skin disorders.
Tags: Center for Individualized Medicine, Dermatology, Lichen planus
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
January 3, 2018
Resiliency and Determination Propel a Researcher’s Discoveries
Mayo Clinic researcher John Fryer, Ph.D., is hopeful the work in his laboratory will yield insights into Alzheimer’s disease, as well as sepsis — an often-deadly condition which claimed his father’s life in 2016.
Tags: Center for Individualized Medicine, Dr. John Fryer, Mayo Clinic Graduate School of Biomedical Sciences
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 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 […]