Precision Medicine

Rare, undiagnosed diseases are relatively common

April 16, 2019

Rare, undiagnosed diseases are relatively common

By 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 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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April 2, 2019

Purna Kashyap, M.B.B.S. – testing the bugs within to maintain health, detect and treat disease

By Sharon Rosen sharonhrosen

The use of microbiome testing – which analyzes the trillions of bacteria in and on the body – is on the move. It’s going from the research lab into the clinic to help guide patient care. DNA testing technologies have revolutionized researchers’ ability to identify individual bacterial strains driving disease. Now genomic testing is helping […]

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Tags: #blood sugar levels, #Center for Individualized Medicine Microbiome Program, #diabetes, #digestive health, #glucose levels, #inflammatory bowel disease, #obesity, #personalized diet, c. difficile, center for individualized medicine, colorectal cancer, Dr. Purna Kashyap


March 26, 2019

Lifesaving information – genetic testing reveals risk, steps to prevent aortic dissection

By Sharon Rosen sharonhrosen

Stephanie Van Doren never realized that taking 30 mile bike rides in the Florida heat was putting her life at risk. But, care for digestive problems also uncovered that she was at risk for an aortic dissection, a potentially fatal condition that could occur with intense exercise. Her care team at Mayo Clinic’s campus in […]

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Tags: #aortic dissection, #Dr. Timothy Woodward, #family medical history, #genetic risk factors, #hereditary diseases, #Sarah Macklin, #Stephanie Van Doren, #thoracic aortic aneurysm, center for individualized medicine, Genetic Counseling, Genetic Testing, mayo clinic


March 19, 2019

Not the end of the road: Delivering the diagnosis of sex-chromosome trisomy

By Barbara J. Toman barbaratoman

Even if you’ve never heard the word “trisomy,” you probably know someone with the condition. March is Trisomy Awareness Month, a time to raise awareness about trisomy conditions and the challenges they can pose to individuals and families. Trisomy means having three copies of a chromosome instead of two. Down syndrome, or trisomy 21, is […]

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Tags: #Down syndrome, #Dr. Megan Allyse, #Klinefelter syndrome, #sex-chromosomes, #trisomy, Mayo Clinic Center for Individualized Medicine


March 12, 2019

Colon cancer awareness: A new era in cancer detection and treatment

By Susan Buckles susanbuckles

March is Colorectal Cancer Awareness Month, a time to focus on one of the most common and preventable forms of cancer. Mayo Clinic is applying a new genomic lens to colorectal and other cancers to identify which are the types that run in families. The answer to that could open new treatment options and also […]

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Tags: #Hereditary colorectal cancer, Dr. Niloy "Jewel" Samadder, hereditary cancer, lynch syndrome, Mayo Clinic Arizona campus, Mayo Clinic Center for Individualized Medicine


March 5, 2019

Meet Nicholas Chia, Ph.D. – pushing the envelope to uncover causes, new treatments for colorectal cancer

By Sharon Rosen sharonhrosen

Space-age technologies, DNA sequencing and artificial intelligence – all tools for discovery that Nicholas Chia, Ph.D. and his team are using to push the envelope and improve care for complex diseases like colorectal cancer. They’re collaborating with scientists from NASA to uncover how the microbiome – the trillions of microbes in and on the body […]

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Tags: #ecology, #genomic testing, #Kidney stones, #microbial ecology, #systems biology, bacteria, colorectal cancer, DNA Sequencing, Dr. Nicholas Chia, gut bacteria, mayo clinic, Mayo Clinic Center for Individualized Medicine


February 27, 2019

Bringing the promise of whole genome DNA sequencing to more patients

By Susan Buckles susanbuckles

For people with a rare genetic disease, the path to a diagnosis can be a long, costly and painful journey. Often times, answers to unexplained conditions go undetected, because the underlying cause lies deep within a person’s genetic code, inaccessible to standard laboratory testing. Whole genome sequencing may unlock those answers by providing the most […]

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Tags: #Hutton Kearney Ph.D., #rare diseases, Mayo Clinic Department of Laboratory Medicine and Pathology, whole genome sequencing


February 21, 2019

Once a patient, now a research fellow: Kelsey Stuttgen, Ph.D. is paying compassion forward

By Sharon Rosen sharonhrosen

One minute the young girl was skiing; the next she had fallen, had severe pain in her leg and was rushed to the hospital. It could have been a scary time filled with questions about the road ahead. But for Kelsey Stuttgen, Ph.D., the compassionate care delivered by her orthopedic surgeon and care team at […]

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Tags: #Dr. Edward Hicks, #Dr. Kelsey Stuttgen, #Mayo Clinic Biomedical Ethics Research Program, Bioethics, Genetic Testing, genomics, mayo clinic, Mayo Clinic Center for Individualized Medicine


February 14, 2019

When the shoelaces fray: short telomere syndromes

By Barbara J. Toman barbaratoman

Unlike gray hair, one of the most significant signs of aging is invisible to the naked eye. Deep inside cells, at the tips of thread-like chromosomes, structures known as telomeres protect chromosomes from deterioration—a bit like the way caps at the ends of shoelaces prevent fraying. Telomeres naturally shorten as people age. But sometimes, an […]

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Tags: #Bone marrow failure, #Dr. Mrinal Patnaik, #short telomeres, aging, Mayo Clinic Center for Individualized Medicine, Premyeloid


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