Items Tagged ‘rare disease’
December 29, 2022
As we count down to 2023, the time is right to recap some of the hot topics of the last year. Spots 9 and 10 were occupied by three stories, so we went with the top 11. If you’re short on time as well as conversation starters, these articles could provide just the thing you […]
Tags: artificial intelligence, big data, biomedical research, Center for Individualized Medicine, Center for the Science of Health Care Delivery, COVID-19, diagnostic odyssey, DNA, environment, epidemiology, genetic testing, gut health
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
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.
February 16, 2022
Mayo Clinic develops automated system to accelerate diagnoses for patients with rare diseases
By Susan Murphy
Mayo Clinic researchers are working to accelerate the diagnoses of rare diseases and renew hope for patients whose symptoms have defied an explanation ― sometimes for years or even decades. The team of genomics experts has developed an automated system called RENEW for tracking new scientific knowledge from around the world of pathogenic genetic variants and […]
Tags: Alejandro Ferrer, biomedical informatics, Center for Individualized Medicine, Eric Klee, genomics, hematology, rare disease
January 12, 2022
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 physicians have also worked to develop individualized treatments, prevention measures and diagnostics for patients with rare and undiagnosed diseases, […]
Tags: artificial intelligence, cancer research, Center for Individualized Medicine, genetic testing, genomics, rare disease
November 2, 2021
Unlocking new genetic testing treatment pathways to save time, lives and resources
Genomics experts worldwide released a paper highlighting advances in rare disease, cancer, population health and carrier screening at the 10th Annual Individualizing Medicine Conference on Saturday, Oct. 9. “The use cases we explored in the paper, ‘The Economic Analysis of the Value of Genetic Testing’ are only the tip of the iceberg in the realm of precision medicine,” says co-author Konstantinos […]
Tags: genetic testing, Individualizing Medicine Conference, Konstantinos Lazaridis, liver cancer, lung cancer, population health, precision medicine, rare disease
June 29, 2021
Gene fusion discovery in ultrarare tumor highlights potential therapeutic target
By Susan Murphy
A scientific investigation led by a team of researchers from Mayo Clinic’s Center for Individualized Medicine reveals that an ultrarare cancer called epithelioid trophoblastic tumor (ETT), which can develop in the uterus after conception, recurrently exhibits an abnormal fusion of two genes. This fusion creates an unusual protein that triggers aggressive cell growth — the […]
Tags: cancer genomics, Center for Individualized Medicine, precision medicine, rare disease, uterine cancer
June 28, 2021
Mayo Clinic Research in the news — 6/28/2021
By Advancing the Science contributor
Vaping, medical AI, the challenges of serving patients with cancer and diabetes, current COVID-19 vaccine and long haul information, and a wide selection of other topics are covered in this week’s news. The Vaping Study You Haven’t Heard Of Slate, 6/25/2021 A report from the Mayo Clinic looked at 70,000 patients and found no link […]
Tags: Alzheimer's disease, antibodies, artificial intelligence, Ashley Wentworth, autoimmune disorder, Barbara Barry, bioethics, biomedical ethics, cancer, cardiovascular disease, Center for Regenerative Medicine, COVID-19
April 22, 2021
Mayo researchers reveal gene therapy path for treating children with rare, fatal genetic disease
By Susan Murphy
A gene therapy strategy developed by Mayo Clinic researchers could offer a potential treatment for a rare and fatal genetic disease that often sickens babies in their first days of life. The disease, propionic acidemia, occurs in 1 in 100,000 live births in the U.S. There is no cure. “As soon as the babies start […]
Tags: Center for Individualized Medicine, gene therapy, genomics, precision medicine, rare disease
April 20, 2021
Mayo researchers use AI to reveal causes of complex diseases
By Susan Murphy
Researchers within Mayo Clinic’s Center for Individualized Medicine have developed an artificial intelligence (AI) platform that can uncover causal drivers and relationships embedded within complex biomedical data. Nicholas Chia, Ph.D., I. John Kalantari, Ph.D., and Kia Khezeli, Ph.D., recently tested their machine-learning framework, called Causal Relation and Inference Search Platform (CRISP) on multiomic colorectal cancer samples […]
Tags: artificial intelligence, cancer, Center for Individualized Medicine, colorectal cancer, data science, genomics, I. John Kalantari, Kia Khezeli, microbiome, NASA, Nicholas Chia, rare disease