undiagnosed diseases

January 9, 2020

Mayo Clinic to sequence 100K participants to build genomic database for improved care and research in collaboration with Helix

By Colette Gallagher Colette Gallagher (@colettegallagher)

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 […]

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December 11, 2019

In a first, researchers sequence single bacterial cells, paving path for rapid sepsis test

By Susan Murphy Susan Murphy (@susanmurphy)

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 […]

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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 Sharon Rosen (@sharonhrosen)

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 […]

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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 Sharon Rosen (@sharonhrosen)

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 […]

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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 Sharon Rosen (@sharonhrosen)

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, […]

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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

Individualizing Medicine 2019 Conference – practical precision cancer care approaches for your patients

By Sharon Rosen Sharon Rosen (@sharonhrosen)

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, […]

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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 Sharon Rosen (@sharonhrosen)

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 […]

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Tags: #Dr. Radhika Dhamija, Genetic Testing, genomics, mayo clinic, Mayo Clinic Center for Individualized Medicine, whole exome sequencing


April 23, 2019

Editorial: Why DNA sequencing is an effective tool for patient care

By Colette Gallagher Colette Gallagher (@colettegallagher)

By Keith Stewart, M.B., CH.B. For the past 30 years, I’ve been fortunate enough to work with and help many patients. But over that time, I’ve also met people who did not respond to therapy or had significant side effects, while others had marvelous responses. Cases like these show a clear need for personalized medicine. […]

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Tags: #rare and undiagnosed diseases, DNA Sequencing, Dr. Keith Stewart, Mayo Clinic Center for Individualized Medicine, pharmacogenomics, undiagnosed disease


April 16, 2019

Rare, undiagnosed diseases are relatively common

By Susan Buckles Susan Buckles (@susanbuckles)

As many as 25 million Americans – about 1 in 13 people – suffer from a rare, undiagnosed condition.* April 29 has been designated Undiagnosed Disease Day to raise awareness that collectively, rare diseases are relatively common. People with a rare disease often spend years visiting different medical providers and clinics seeking answers to unexplained […]

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Tags: #Dr. Heidi Rehm, #genomic testing, #rare diseases, #Undiagnosed rare diseases, Bioinformatics, DNA Testing, Dr. Eric Klee, Human Genome Project, Mayo Clinic Center for Individualized Medicine


April 8, 2019

Genetic test solves mystery of family bleeding disorder

By Colette Gallagher Colette Gallagher (@colettegallagher)

The Riggs family had a bleeding disorder that spanned three generations and affected the health of multiple family members. They never knew the cause of it, the long term risks associated with it, or the impact it may have on future generations — until a genetic test revealed the answer. Finding the clues to the […]

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