undiagnosed diseases
February 28, 2023
Mayo Clinic investigators put genomics into action to diagnose patients’ mysterious illnesses
By Susan Murphy 
February 28 is designated Rare Disease Day to raise awareness that, collectively, rare diseases are relatively common. A rare disease is defined as a disease or condition that affects less than 200,000 people. As many as 30 million people in the U.S. have a rare disease, and many people search an average of eight to […]
Tags: center for individualized medicine, Dr. Eric Klee, Dr. Konstantinos Lazaridis, Dr. Pinto e Vairo, genomic medicine, 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
November 4, 2021
By Susan Murphy
Mayo Clinic has joined a new Rare Disease Centers of Excellence network, which consists of a select group of 31 medical centers across the U.S. This network, which is led by the National Organization for Rare Disorders (NORD), seeks to: Promote knowledge sharing between experts across the U.S. Connect patients to appropriate specialists, regardless of […]
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 […]
December 24, 2020
2020 Mayo Clinic Precision Medicine Advances
By Susan Murphy
This year, Mayo Clinic’s Center for Individualized Medicine was at the forefront of COVID-19 research, working to unravel the complexities of the virus in order to discover life-saving treatments and prevention — from testing to building a pandemic response biobank to identifying COVID-19 strains within individual patients. But even in the midst of the pandemic, […]
Tags: #Artificial Intelligence, Cancer Research, Genetics, genomics, individualized medicine, multi-omics, Research
January 21, 2020
Patient’s premature aging symptoms tied to shorter DNA strands
At only 27-years-old, Morgan Cook recalls the days when she had an abundant amount of energy. “I would lift weights. I would do cardio. I would – you name it, I would do it. I was a lot more active,” says Cook. “I felt like I was able to do more things with friends. I […]
Tags: #Mrinal Patnaik, center for individualized medicine, Genetics, genomics, hematology, hyperextensible joints, low blood count, mayo clinic, premature aging, short telemores syndrome