undiagnosed diseases
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
January 9, 2020
Mayo Clinic is creating a library of genomic sequencing data on 100,000 consented Mayo Clinic participants to advance research and patient care. “We believe that whole exome sequencing has the potential to reveal predispositions to health problems and enable earlier use of preventive measures throughout a person’s lifespan,” says Keith Stewart, M.B., Ch.B., Carlson and […]
December 11, 2019
In a first, researchers sequence single bacterial cells, paving path for rapid sepsis test
By Susan Murphy
For the first time, Mayo Clinic researchers are sequencing the genomic contents of single bacterial cells. The technique may pave the way for a potential lifesaving test for sepsis, a serious and sometimes deadly condition caused by the body’s response to an infection. Rather than waiting for days to identify the source of a patient’s […]
Tags: #sepsis, bacteria, bacterial cells, Genome Sequencing, individualized medicine
November 28, 2019
For one patient, sharing her family medical history led to lifesaving care
By Sharon Rosen 
When Stephanie Van Doren first visited Mayo Clinic’s campus in Florida, she was seeking care for digestive issues. But after hearing Van Doren’s family medical history and completing a clinical evaluation, gastroenterologist Timothy Woodward, M.D. recognized that she may also be at risk for a potentially fatal heart condition, aortic dissection. Genetic testing confirmed that […]
Tags: #aortic dissection, #family medical history, #hereditary diseases, #Stephanie Van Doren, center for individualized medicine, Genetic Testing, genomics, Heart Disease, mayo clinic, Timothy Woodward
July 23, 2019
From ancestry to health traits – how do I know if genetic testing may be right for me?
By Sharon Rosen
Article by Shannon Wieloch Last month we posted a blog on helpful tips to know before taking a DNA test. In part II of this topic, we delve deeper into the types of genetic testing commonly available to help you decide what type of testing may be right for you. Some genetic tests inform you […]
Tags: #disease risk, #drug-gene reactions, #Genetic diseases, #hereditary diseases, ancestry, at home DNA tests, carrier screening, center for individualized medicine, direct-to-consumer genetic tests, dna test, Genetic Counseling, Genetic Counselor
June 17, 2019
Considering a DNA test? Helpful tips before you take the plunge
By Sharon Rosen
Article by Shannon Wieloch The availability of genetic testing has exploded. You hear about it on television, the radio and the internet. Family members are verifying age-old stories of their ancestry. Co-workers are talking about the genes that predispose them to weigh 12% less than average. With everyone doing it, a consumer may think, “Well, […]
Tags: #direct-to-consumer genetic testing, #disease risk, #drug-gene interactions, carrier screening, center for individualized medicine, data privacy, diagnostic tests, Genetic Testing, mayo clinic, Mayo Clinic GeneGuide
May 29, 2019
By Sharon Rosen
Amidst the demands of providing care for patients with cancer, it can be challenging for oncologists and their care teams to keep up with the rapidly evolving field of genomics. Practical ways to apply the latest precision medicine discoveries is the focus of this year’s Individualizing Medicine Conference: Precision Cancer Care through Immunotherapy and Genomics, […]
Tags: #CAR T-cell therapy, #CIMCon19, biliary cancer, breast cancer, center for individualized medicine, Dr. Alan Bryce, familial cancer syndromes, hematologic cancers, immunotherapies, Individualizing Medicine Conference 2019, Lung Cancer, lymphoma
May 23, 2019
After nearly three decades of testing, genome-sequencing brings answers for Arizona family
By Sharon Rosen
Article by Lynn Closway At age 27, Kyle Christy has defied the odds. He was born with seemingly insurmountable medical challenges that caused his parents, Debra and Todd, to fear what their beloved first-born son’s life would be like. When their second son was born, just 19 months later, Debra and Todd immediately noticed the […]
Tags: #Dr. Radhika Dhamija, Genetic Testing, genomics, mayo clinic, Mayo Clinic Center for Individualized Medicine, whole exome sequencing