Items Tagged ‘#Dr. Lisa Schimmenti’

December 6, 2022

Mayo Clinic solves genetic mystery of woman’s lifelong ultra-rare disease

By Susan Murphy Susan Murphy (@susanmurphy)

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 […]

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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 Sharon Rosen (@sharonhrosen)

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 […]

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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

Finding more answers: Mayo researchers are participating in international network to improve diagnosis of rare genetic diseases

By Sharon Rosen Sharon Rosen (@sharonhrosen)

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 […]

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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


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