Rare and undiagnosed diseases
August 16, 2023
By Susan Murphy 
When Emery Diffendorfer was a baby, he couldn’t hold his head up or babble like other infants his age. His rare genetic disorder enlarged his tongue and head, and he had weakened muscle tone, brittle bones, sleep apnea, poor eyesight and persistent infections in his tonsils and adenoids. By six months old, the tiny Mayo […]
Tags: Biomedical research
February 27, 2023
Mayo Clinic discovery leads to life-changing treatment for young girl with ultra-rare disease
By Susan Murphy
Months after young Maggie Carmichael started taking an experimental drug for her ultra-rare genetic disease, she was able to trade in her wheelchair for a walker. The 9-year-old Mayo Clinic patient even took a few of her first-ever steps on her own. She also became better at feeding herself, her speech improved and she started coloring in the lines.
Tags: #Dr. Eva Morava-Kozicz, Biomedical research, center for individualized medicine, DNA Testing, genomic medicine, personalized medicine
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 25, 2022
By Susan Murphy
ROCHESTER, Minn. – The next frontier in individualized medicine is here. Mayo Clinic’s 11th annual Individualizing Medicine Conference on Nov. 2–3 will focus on “Exploring the Exposome” — the cumulative measure of environmental influences and associated biological responses throughout the life span of a person, and how those exposures relate to health and disease. “We’ve […]
June 21, 2022
By Susan Murphy
A collaborative team of scientists led by Mayo Clinic’s Center for Individualized Medicine has discovered 15 additional genetic mutations in the KCNK9 gene that cause a neurodevelopmental syndrome. Symptoms of the disorder range from speech and motor impairment to behavioral abnormalities, intellectual disability and distinctive facial features.
Tags: #neurological disorders, center for individualized medicine, Dr. Margot Cousin, gene sequencing, genomics, medical research, personalized medicine
February 28, 2022
Young girl with rare disease gets life-changing diagnosis and targeted therapy at Mayo Clinic
By Susan Murphy
Araeya Sell, 13, has spent much of her childhood visiting her health care team and in the hospital. She has endured countless blood draws, scans, procedures and a surgery ― all in the search for answers to her complex symptoms. After an exhaustive, nearly seven-year diagnostic odyssey, the Sells turned to Mayo Clinic.
Tags: center for individualized medicine, Dr. Konstantinos Lazaridis, Dr. Pinto e Vairo, Genetics, genomics
February 9, 2022
Mayo Clinic develops automated system to accelerate diagnoses for patients with rare diseases
By Susan Murphy
A team of genomics experts within Mayo Clinic’s Center for Individualized Medicine has developed an automated system for tracking new scientific knowledge from around the world of pathogenic genetic variants and applying it to Mayo Clinic patients with rare and undiagnosed diseases.
Tags: center for individualized medicine, Dr. Alejandro Ferrer, Dr. Eric Klee
December 28, 2021
10 Significant Mayo Clinic Center for Individualized Medicine studies of 2021
By Susan Murphy
It has been an impactful year of genomic and multi-omic research and scientific discoveries in Mayo Clinic’s Center for Individualized Medicine. While much focus in 2021 was centered on advancing the knowledge of COVID-19, Mayo scientists and physician have also worked to develop individualized treatments, prevention measures and diagnostics for patients with rare and undiagnosed diseases, cancer and other illnesses.
Tags: center for individualized medicine, DNA Testing, gene sequencing, Genetics, genomic medicine, genomics
October 25, 2021
By Susan Murphy
Genomics experts highlighted the latest cutting-edge precision medicine strategies to accelerate medical breakthroughs at the 10th Annual Mayo Clinic Individualizing Medicine Conference. More than 350 researchers, clinicians and health care workers from across the world attended the virtual conference to learn firsthand how scientists are advancing the frontiers of individualized medicine. “We truly now have […]
Tags: artificial intelligence, cancer genomics, genomic medicine, individualized medicine
July 1, 2021
By Susan Murphy
Rochester, Minn. — Mayo Clinic researchers have discovered that genetic variants in a neuro-associated gene called SPTBN1 are responsible for causing a neurodevelopmental disorder. The study, published in Nature Genetics, is a first step in finding a potential therapeutic strategy for this disorder, and it increases the number of genes known to be associated with […]