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 ‘genomics’

February 11, 2021

Mayo researchers explore genetics behind COVID-19 outcomes

By Susan Murphy Susan Murphy

Some patients with COVID-19 experience severe complications, such as organ damage, shortness of breath, neurological impairment and chronic fatigue. A team of researchers within Mayo Clinic Center for Individualized Medicine is contributing to the global effort of using advanced genetic sequencing to find out which genes influence disease outcomes. “Our findings will be crucial in treating and […]

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Tags: Center for Individualized Medicine, COVID-19, Erin DeMartino, genetics, genome, genomics, Konstantinos Lazaridis, Pooja Advani, Satoko Yamaoka


February 10, 2021

Researchers define best practices of genome sequencing for patients with rare diseases

By Colette Gallagher Colette Gallagher

Genome sequencing has shown promise in becoming a first-tier diagnostic test for patients with rare genetic disorders, but standards addressing the definition and deployment of a best-in-class test are lacking. Two recent manuscripts published in npj Genomic Medicine present consensus recommendations on clinical genome sequencing analytical validation and clinical utility to diagnose patients with suspected genetic diseases, including practical advice for […]

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Tags: Brendan Lanpher, Center for Individualized Medicine, clinical research, Department of Laboratory Medicine and Pathology, Eric Klee, genetic testing, genetics, genomics, Hutton Kearney, Ross Rowsey


January 12, 2021

Physicians have new guidelines for managing rare genetic, metabolic disorders

By Susan Murphy Susan Murphy

Physicians now have a blueprint for diagnosing and managing two specific rare inherited metabolic diseases within a group of nearly 150 congenital disorders of glycosylation. These diseases can cause serious and sometimes fatal malfunctions of several organs at or before birth, as well as chronic debilitating symptoms in adults.  The consensus guidelines were published in […]

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Tags: Center for Individualized Medicine, clinical research, Eva Morava-Kozicz, genetics, genomics, hereditary diseases, metabolomics, rare disease


December 28, 2020

Mayo study explores benefits of genetic testing for healthy people

By Colette Gallagher Colette Gallagher

More than 1 in 10 people who had predictive genomic testing ― testing that looks for genetic mutations in otherwise healthy people ― learned that they had a hereditary risk for a health condition and may benefit from preventive care, according to a recent study published in Mayo Clinic Proceedings. This study is the first to […]

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Tags: Center for Individualized Medicine, gene mutation, genetic counseling, genetic testing, genomics, hereditary diseases, individualized medicine, Mayo Clinic Proceedings, personalized medicine


December 9, 2020

Diversifying genomic medicine beyond genes

By Colette Gallagher Colette Gallagher

The work to improve health and health care is ongoing and ever-evolving. It takes many shapes, from streamlining delivery to improving care and pursuing inclusive medical research to help develop precision medicine for all populations. This was a key element of the Arizona Return of Actionable Variants Empirical, or RAVE, study, which brought genomic medicine to […]

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Tags: biomedical ethics, Center for Individualized Medicine, clinical trials, diversity, DNA, genetics, genomics, health disparities, Iftikhar Kullo, Richard Sharp


October 6, 2020

Mayo scientists develop mathematical index to distinguish healthy microbiome from diseased

By Susan Murphy Susan Murphy

What causes some people to develop chronic diseases such as rheumatoid arthritis, cancer and metabolic syndrome while others stay healthy? A major clue could be found in their gut microbiome — the trillions of microbes living inside the digestive system that regulate various bodily functions. To utilize the huge population of tiny organisms as a […]

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Tags: Center for Individualized Medicine, genomics, gut health, Jaeyun Sung, microbiome, multiple chronic conditions


September 16, 2020

Mayo Clinic research advances diagnostics to lead COVID-19 pandemic response

By Susan Murphy Susan Murphy

When COVID-19 spread across the U.S. in early March, Mayo Clinic’s Advanced Diagnostic Laboratory (ADL) urgently responded. Lab spaces were transitioned, staff reassigned and funding approvals were fast-tracked. Its goals were to accelerate research, development, translation and implementation of novel tests in order to discover life-saving treatments and diagnostics. “ADL houses a lab structure for […]

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Tags: Ann Moyer, antibodies, Benjamin Kipp, Bobbie Pritt, Center for Individualized Medicine, COVID-19, Department of Laboratory Medicine and Pathology, Dietrich Matern, Elitza Theel, genetics, genomics, John Mills


August 28, 2020

Mayo Clinic Research in the news — COVID, COVID, COVID

By Elizabeth Zimmermann Elizabeth Zimmermann

There has been a lot of discussion surrounding convalescent plasma in the last week. A few articles are listed here, an internet search will give you dozens more. In addition to convalescent plasma, our researchers are working on tests, vaccines, social and population health issues relating to COVID-19. Recent news articles highlighting Mayo Clinic Research […]

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Tags: Angela Mattke, cardiology, COVID-19, emergency department, genomics, Gregory Poland, health disparities, immunization, infection control, infectious disease, LaPrincess Brewer, Michael Ackerman


February 18, 2020

Mayo researchers studying ‘promising’ new approach to treating advanced cancer, 1 patient at a time, 1 tumor at a time

By Susan Murphy Susan Murphy

A collaborative team of Mayo Clinic scientists is studying an innovative strategy for treating advanced cancer, using genomics and human tumor samples as their guide. The novel approach, called Ex Vivo, creates a miniature cancer replica for testing therapies outside a patient’s body, combined with a comprehensive genomic analysis of a patient’s cancer cells. “We […]

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Tags: biomarkers, cancer, cancer genomics, Center for Individualized Medicine, genomics, George Vasmatzis, individualized medicine, Mayo Clinic Cancer Center, Minetta Liu, Panos Anastasiadis, personalized medicine


January 9, 2020

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

By Susan Murphy 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 […]

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Tags: antibacterial resistance, basic science, biomedical engineering, Center for Individualized Medicine, deep space medicine, genomics, Heidi Nelson, infectious disease, Marina Walther-Antonio, Nicholas Chia, Robin Patel, sepsis


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