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’

April 22, 2021 · Leave a Comment

Mayo researchers reveal gene therapy path for treating children with rare, fatal genetic disease

By Susan Murphy Susan Murphy (@susanmurphy)

A gene therapy strategy developed by Mayo Clinic researchers could offer a potential treatment for a rare and fatal genetic disease that often sickens babies in their first days of life. The disease, propionic acidemia, occurs in 1 in 100,000 live births in the U.S. There is no cure. “As soon as the babies start […]

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Tags: Center for Individualized Medicine, gene therapy, genomics, precision medicine, rare disease


March 31, 2021 · Leave a Comment

Mayo Clinic researchers explore personalized approach to anti-obesity medications

By Colette Gallagher Colette Gallagher (@colettegallagher)

Individualized medicine initiatives mainly focus on rare diseases or cancer. Little has been attempted to individualize treatment for noncommunicable chronic diseases such as obesity — a chronic, relapsing disease, and a primary cause of Type 2 diabetes, fatty liver disease, cardiovascular disease and cancer. There are many obesity interventions, such as diets, devices, surgery and […]

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Tags: Andres Acosta, Center for Individualized Medicine, genome, genomics, obesity, personalized medicine


March 22, 2021 · Leave a Comment

Mayo Clinic Research in the news — 3/22/2021

By Elizabeth Zimmermann Elizabeth Zimmermann (@elizabethzimmermann)

News including Mayo Clinic research and research expertise this week covered a wide range of topics, including genetic testing to inform prescribing blood thinners and therapies for bile duct and gall bladder cancers. A number of women’s health related articles highlighted Mayo Clinic research, there were some arguments for naps, and the ever present COVID-19 […]

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Tags: antiplatelet, asthma, bile duct cancer, breast cancer, COVID-19, Diego Zaquera Carvalho, Elizabeth Stewart, gall bladder cancer, gastroenterology, genetic testing, genetics, genomics


March 10, 2021 · Leave a Comment

Mayo Clinic physician cracks patient’s mysterious illness with epigenetics technology

By Susan Murphy Susan Murphy (@susanmurphy)

Kenneth Hobby assumed his fever, fatigue and aching pains on that day in May 2018 were from another bout of malaria. He was visiting Zambia in southern Africa — the stomping grounds of his childhood and a place where the mosquito-borne parasite is common. He had returned to the vast safari lands, as he often […]

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Tags: blood disease, Center for Individualized Medicine, DNA, epigenetics, genomics, hematology, Mrinal Patnaik, rare disease


March 3, 2021 · Leave a Comment

Mayo Clinic investigators pursue every clue to solve patients’ rare diseases

By Susan Murphy Susan Murphy (@susanmurphy)

When patients’ illnesses are a mystery and their symptoms have defied a diagnosis, they often turn to Mayo Clinic. There a team of genomic-oriented clinicians and researchers within the Center for Individualized Medicine pursue every possible clue to solve these complex cases.  As many as 30 million Americans have a rare disease. Many patients search […]

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Tags: biobank, biomarkers, Center for Individualized Medicine, clinical research, DNA, Filippo Pinto e Vairo, gene mutation, genetic counseling, genetic testing, genomics, Konstantinos Lazaridis, rare disease


February 11, 2021 · Leave a Comment

Mayo researchers explore genetics behind COVID-19 outcomes

By Susan Murphy Susan Murphy (@susanmurphy)

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 · Leave a Comment

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

By Colette Gallagher Colette Gallagher (@colettegallagher)

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 · Leave a Comment

Physicians have new guidelines for managing rare genetic, metabolic disorders

By Susan Murphy Susan Murphy (@susanmurphy)

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 · Leave a Comment

Mayo study explores benefits of genetic testing for healthy people

By Colette Gallagher Colette Gallagher (@colettegallagher)

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 · Leave a Comment

Diversifying genomic medicine beyond genes

By Colette Gallagher Colette Gallagher (@colettegallagher)

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


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