February 10, 2020
Careful Evaluation, Genetic Testing Offer a New Path Forward
Diagnosed with multiple sclerosis, Maureen Jessen, always wondered why the disease affected her so differently than it did others. Doctor after doctor told her that MS was likely causing her symptoms, so she believed them. Mayo Clinic specialists, however, gave Maureen new insight into her illness — one that had nothing to do with MS.
Tags: Center for Individualized Medicine, Center for Multiple Sclerosis and Autoimmune Neurology, Clinical Genomics, Dr. Cristina Valencia Sanchez, Dr. Dean Wingerchuk, Dr. Radhika Dhamija
May 20, 2019
Genetic Testing Reveals Answers During Long Medical Odyssey
After searching nearly three decades for an explanation to his challenging medical problems, whole-exome sequencing at Mayo Clinic finally provided the information Kyle Christy needed to better understand his condition and chart a way forward.
Tags: Center for Individualized Medicine, Dr. Radhika Dhamija, Genetic testing, Whole-exome sequencing
April 5, 2019
Difficult Diagnosis Inspires Corinne Berg to Empower Others
Corinne Berg was a little girl when she saw firsthand the devastating effects that breast cancer had on her family. Read the story of how Berg learned of her own risk for breast cancer and how she has used that experience to educate herself and others.
Tags: BRCA mutation, breast cancer, Center for Individualized Medicine, Mayo Clinic Cancer Center, Mayo Clinic's Familial Cancer Program
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 […]