December 6, 2022
Mayo Clinic solves genetic mystery of woman’s lifelong ultra-rare disease
By Susan Murphy
For nearly five decades, Patti Schultz’s life was defined by mysterious and debilitating health conditions that caused her to feel isolated and discouraged. Her whirlwind of medical appointments started the day she was born, as a 2-pound preemie. Throughout her childhood, one doctor after the next was baffled by her joint pains, selective mutism, distinctive […]
Tags: #Dr. Lisa Schimmenti, center for individualized medicine, gene sequencing, genomics, medical research
October 4, 2018
Meet Lisa Schimmenti: Searching for drug therapies to treat hearing loss
By Sharon Rosen
Lisa Schimmenti, M.D. has always been fascinated with Helen Keller and all she accomplished, in spite of being blind and deaf from a very young age. As the newly appointed chair of Mayo Clinic’s Department of Clinical Genomics and a medical geneticist, Dr. Schimmenti cares for patients with similar conditions. In her clinical practice, she sees […]
Tags: #Dr. Lisa Schimmenti, #drug discovery, #hearing aids, #hearing loss, #Mayo Clinic Department of Clinical Genomics, #Mayo Clinic Department of Otorhinolaryngology, #Usher Syndrome, #zebrafish, center for individualized medicine, mayo clinic, medical research
December 22, 2016
By Sharon Rosen
Approximately 30 million people in the United States suffer from rare diseases that may have a genetic basis, according to the Food and Drug Administration. Mayo Clinic Center for Individualized Medicine investigators are expanding their efforts to help these patients by participating in the Undiagnosed Diseases Network International (UDNI). This international research network is aimed […]
Tags: #Center for Individualized Mediicine, #Diagnostic Odyssey Clinic, #Dr. Kenjiro Kosaki, #Dr. Lisa Schimmenti, #Dr. Stephen Ekker, #Dr. William Gahl, #Undiagnosed Diseases Network International, #Undiagnosed rare diseases, Dr. Dusica Babovic-Vuksanovic, Dr. Eric Klee, mayo clinic, medical research