Items Tagged ‘genomics’
December 15, 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: Center for Individualized Medicine, genetic testing, genomics, rare disease
September 20, 2022
Mayo Clinic researchers integrate genomics into kidney disease diagnosis, care
Genomic testing results evaluated by a team of Mayo Clinic researchers, coupled with the latest research techniques, provided a definitive diagnosis for 30.7% of families with unexplained chronic kidney disease or stones, as reported in a 2021 study published in Kidney Medicine, a Journal of the National Kidney Foundation. The study obtained the highest diagnostic yield in people with […]
Tags: Center for Individualized Medicine, genomics, kidney disease
September 13, 2022
Mayo Clinic study reveals aging speeds genomic mutations in brain
Somatic mutations naturally occur in cells throughout human development and during aging. However, it has yet to be determined whether the frequency of somatic mutations in the population are a contributing factor to the cause of neuropsychiatric disorders, cancers, and various diseases. Alexej Abyzov, Ph.D., a Mayo Clinic genomics researcher, seeks to gain a better […]
Tags: brain, Center for Individualized Medicine, genomics, neurology
August 8, 2022
Meet Moein Enayati, Ph.D., expertly employing artificial intelligence to improve health care
Vast quantities of data and information exist within health care. Moein Enayati, Ph.D., is a research associate in health care systems engineering in the Mayo Clinic Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery. With his research, Dr. Enayati aims to make sense of such health-related data. “I came […]
Tags: Adelaide Arruda-Olson, AHRQ, artificial intelligence, big data, cardiology, cardiovascular medicine, Center for the Science of Health Care Delivery, Che Ngufor, clinical informatics, diversity, emergency department, Eric Klee
June 28, 2022
Mayo Clinic patient grateful after genetic test leads to unexpected, early detection of colon cancer
By Susan Murphy
Alejandro Mirazo, 56, never imagined his genetic test results would reveal a hereditary link to cancer, or that his findings would potentially save his life. He had participated in a preemptive DNA research sequencing study for Mayo Clinic’s Center for Individualized Medicine in fall 2021 solely to contribute to medical research. As a Mexican American, he also […]
Tags: Center for Individualized Medicine, colon cancer, genetic testing, genomics, Konstantinos Lazaridis, Niloy "Jewel" Samadder
June 16, 2022
Native American’s genetic test results at Mayo Clinic reveal surprise lineage to ancient tribe
By Susan Murphy
Mayo Clinic working to advance health equity among Native Americans, Alaska Natives Schyler Martin, a member of the Munsee Band of Mohicans in Minnesota, was surprised and excited when his recent Mayo Clinic genetic test results revealed he has distinctive DNA lineage to an ancient group of Native Americans known as the Beringians. According to […]
Tags: Center for Individualized Medicine, DNA, genetic testing, genomics
May 31, 2022
Mayo research using DNA to catch cancer, other medical conditions earlier
What would happen if a certain percentage of serious medical conditions, including cancer diagnoses, were found significantly earlier by studying the entire genome of patients’ DNA? How would their quality of life improve, and how many fewer cancer deaths would there be each year? That’s what a group of Mayo Clinic scientists and clinicians aim […]
Tags: Bijan Borah, breast cancer, Center for Individualized Medicine, Center for the Science of Health Care Delivery, Centers for Disease Control and Prevention, DNA, genome, genomics, health disparities, hereditary cancer, hereditary diseases, hypercholesterolemia
April 4, 2022
Research News Roundup — March 2022
By Advancing the Science contributor
March news reports are often focused on college basketball, daylight savings time and Mardi Gras. This year, Ukraine and the its people are top of mind for many, providing a sobering counterpoint. Behind the scenes, research has continued at Mayo Clinic, and several findings were released in March that help build the evidence and point […]
Tags: aging, Alzheimer's disease, animal model, artificial intelligence, biomarkers, chemotherapy, collaboration, COVID-19, depression, discovery research, drug discovery, genomics
March 30, 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. “It started in kindergarten when Araeya just kept getting bladder infections,” says her mother, Nicole […]
Tags: Center for Individualized Medicine, Filippo Pinto e Vairo, genetic testing, genetics, genomics, individualized medicine, Konstantinos Lazaridis, rare disease, William Faubion Jr.
March 23, 2022
By Susan Murphy
A growing number of people are dying from antibiotic-resistant infections. These infections are fueled by microbial species that are mutating to evade the drugs developed to destroy them. More than 1.2 million people worldwide died in 2019 from antibiotic-resistant infections. In response, a team of researchers from Mayo Clinic’s Center for Individualized Medicine has developed a sequencing technology to […]
Tags: antibacterial resistance, antibiotic, Center for Individualized Medicine, DNA, Emma Whittle, genomics, gut health, infection, infectious disease, microbiome, RNA