Genomics
June 28, 2019
Genetic Test Solves Mystery of Family Bleeding Disorder
When a problem with low blood platelet counts surfaced in three generations of the Riggs family, Mayo Clinic doctors went to work to discover what was causing the disorder. Genetic testing revealed the answer, and now, armed with that information, the family is moving forward with confidence.
Tags: Dr. Mrinal Patnaik, Genetic testing, Von Willebrand disease, Whole-exome sequencing
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
May 6, 2019
Genetic Testing Generates Optimism for Ovarian Cancer Treatment
When Jean Niven learned she had ovarian cancer, her desire to find a knowledgeable, compassionate physician led her to Mayo Clinic. Then, when her cancer returned, genetic information opened the door to fresh treatment options.
Tags: breast cancer, Dr. Gerardo Colon-Otero, Dr. Tri Dinh, Gynecologic cancer, Mayo Clinic Cancer Center, Ovarian cancer care
March 4, 2019
Cochlear Implants Open a New World for Aida
When Melinda and Matt Little found out their baby girl, Aida, was deaf, they wanted to do everything they could to enable her to hear. A multidisciplinary team at Mayo Clinic helped them achieve that goal.
Tags: Audiology team, cochlear implant, Dr. Lisa Schimmenti, Dr. Matthew Carlson, Hearing Loss, Mayo Clinic Children's Center, Newborn Intensive Care Unit, Waardenburg syndrome
February 13, 2019
Comprehensive Care Makes for a Brighter Future
When Stephanie Van Doren came to Mayo Clinic, she never expected to learn she had a genetic defect that raised her risk for a potentially fatal heart condition. But thanks to her physician’s all-inclusive approach, Stephanie and her family now have information they need to live life to the fullest.
Tags: Clinical Genomics, Dr. Timothy Woodward, Eosinophilic esophagitis, Genetic testing
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 […]