Advancing the Science

Mayo Clinic Medical Science Blog – an eclectic collection of research- and research education-related stories: feature stories, mini news bites, learning opportunities, profiles and more from Mayo Clinic.

Items Tagged ‘genetic testing’

December 29, 2022

Top 10 (ish) posts of 2022

By Elizabeth Zimmermann Elizabeth Zimmermann (@elizabethzimmermann)

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 […]

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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 Susan Murphy (@susanmurphy)

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 […]

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Tags: Center for Individualized Medicine, genetic testing, genomics, rare disease


June 28, 2022

Mayo Clinic patient grateful after genetic test leads to unexpected, early detection of colon cancer

By Susan Murphy Susan Murphy (@susanmurphy)

Alejandro Mirazo, 56, never imagined his genetic test results would reveal a hereditary link to cancer, or that his findings would potentially save his life. He had participated in a preemptive DNA research sequencing study for Mayo Clinic’s Center for Individualized Medicine in fall 2021 solely to contribute to medical research. As a Mexican American, he also […]

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Tags: Center for Individualized Medicine, colon cancer, genetic testing, genomics, Konstantinos Lazaridis, Niloy "Jewel" Samadder


June 16, 2022

Native American’s genetic test results at Mayo Clinic reveal surprise lineage to ancient tribe   

By Susan Murphy Susan Murphy (@susanmurphy)

Mayo Clinic working to advance health equity among Native Americans, Alaska Natives Schyler Martin, a member of the Munsee Band of Mohicans in Minnesota, was surprised and excited when his recent Mayo Clinic genetic test results revealed he has distinctive DNA lineage to an ancient group of Native Americans known as the Beringians. According to […]

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Tags: Center for Individualized Medicine, DNA, genetic testing, genomics


March 30, 2022

Young girl with rare disease gets life-changing diagnosis and targeted therapy at Mayo Clinic

By Susan Murphy Susan Murphy (@susanmurphy)

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 […]

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Tags: Center for Individualized Medicine, Filippo Pinto e Vairo, genetic testing, genetics, genomics, individualized medicine, Konstantinos Lazaridis, rare disease, William Faubion Jr.


January 12, 2022

10 Significant Mayo Clinic Center for Individualized Medicine studies of 2021

By Susan Murphy Susan Murphy (@susanmurphy)

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, […]

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Tags: artificial intelligence, cancer research, Center for Individualized Medicine, genetic testing, genomics, rare disease


December 28, 2021

Identifying inherited gene mutations in pancreatic cancer can lead to targeted therapies, better survival

By Susan Murphy Susan Murphy (@susanmurphy)

A new Mayo Clinic study finds 1 in 6 people with pancreatic cancer harbor inherited genetic mutations. Identifying hereditary gene mutations in pancreatic cancer can help determine individualized treatments and potentially prolong survival, according to new Mayo Clinic Center for Individualized Medicine research. In the study, which was published in Clinical and Translational Gastroenterology, nearly 1 in 6 people diagnosed […]

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Tags: Center for Individualized Medicine, genetic testing, genomics, Niloy "Jewel" Samadder, pancreatic cancer


November 2, 2021

Unlocking new genetic testing treatment pathways to save time, lives and resources

By Colette Gallagher Colette Gallagher (@colettegallagher)

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 […]

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Tags: genetic testing, Individualizing Medicine Conference, Konstantinos Lazaridis, liver cancer, lung cancer, population health, precision medicine, rare disease


October 26, 2021

Large-scale exome sequencing project spots disease-fueling mutations to save lives, accelerate discoveries

By Susan Murphy Susan Murphy (@susanmurphy)

When Michelle Ewy, 38, received an opportunity at Mayo Clinic to get her DNA tested for genetic mutations related to breast and ovarian cancers, and other cancers and diseases, she jumped at the chance.  “I wasn’t thinking much of what the outcome would be because there has not been a prevalence of breast or ovarian […]

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Tags: BRCA2, breast cancer, cancer research, Center for Individualized Medicine, genetic counseling, genetic testing, genome, hereditary cancer, Konstantinos Lazaridis, Lynch syndrome, ovarian cancer


July 7, 2021

Mayo researchers study genetic basis of high cholesterol in adults

By Colette Gallagher Colette Gallagher (@colettegallagher)

In a new study published in NPJ Genomic Medicine, Mayo Clinic researchers found that genetic testing may help identify patients with high cholesterol, or hypercholesterolemia. It also may have implications for the clinical management of patients diagnosed with high cholesterol due to a genetic disorder, or familial hypercholesterolemia. “In our study, we found more than 50% of the […]

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Tags: Center for Individualized Medicine, cholesterol, genetic testing, hypercholesterolemia, Iftikhar Kullo, precision medicine


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