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 ‘genetics’

July 20, 2021 · Leave a Comment

Newly discovered genetic variants in a single gene cause neurodevelopmental disorder, Mayo study finds

By Susan Murphy Susan Murphy (@susanmurphy)

Rochester, Minn. — Mayo Clinic researchers have discovered that genetic variants in a neuro-associated gene called SPTBN1 are responsible for causing a neurodevelopmental disorder. The study, published in Nature Genetics, is a first step in finding a potential therapeutic strategy for this disorder, and it increases the number of genes known to be associated with conditions that affect […]

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Tags: Center for Individualized Medicine, gene mutation, genetics, genomics, Margot Cousin, neurosciences


June 8, 2021 · Leave a Comment

Mayo researchers articulate implications of Omic-Medicine Era – What needs to happen with each stakeholder?

By Colette Gallagher Colette Gallagher (@colettegallagher)

In the near future, genome sequencing, among other biological measures, will be as routine as X-rays and cholesterol testing. The challenge, though, will be accurately interpreting the vast amount of data and effectively using it to guide decisions about health care. In a position statement published in Hepatology, Mayo Clinic researchers layout perspectives of various stakeholders […]

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Tags: Arjun Athreya, artificial intelligence, big data, bioethics, Center for Individualized Medicine, data science, genetic testing, genetics, genomics, Konstantinos Lazaridis, patient experience, population health


May 10, 2021 · Leave a Comment

Mayo Clinic Research in the news — 5/10/2021

By Elizabeth Zimmermann Elizabeth Zimmermann (@elizabethzimmermann)

Some Mayo Clinic research in the news this week is at the discovery level, in our genes. And at the other end of the research spectrum, better outcomes in a clinical setting — in this case, a new way to heal scars. Read the post for quick stops all along the continuum, including trauma, COVID-19, […]

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Tags: Alzheimer's disease, artificial intelligence, big data, brain, Brian Kim, cancer prevention, cancer screening, Chyke Doubeni, clinical trials, colorectal cancer, data science, dementia


April 26, 2021 · Leave a Comment

Mayo Clinic Research in the news — 4/26/2021

By Elizabeth Zimmermann Elizabeth Zimmermann (@elizabethzimmermann)

Catch up on some of the news about Mayo Clinic’s research and faculty experts. Among the topics covered are artificial intelligence, women’s sexual health, genetic implications for several conditions, and COVID-19. Stool-based colorectal cancer screening preferred over colonoscopy Healio News, 4/22/2021 Individuals preferred stool-based screening for colorectal cancer over colonoscopy, according to survey results published in Cancer Prevention Research. “Although […]

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Tags: AFib, amyloidosis, antiplatelet, artificial intelligence, atrial fibrillation, Center for the Science of Health Care Delivery, Charanjit Rihal, colorectal cancer, COVID-19, Dawn Marie Davis, dermatology, Donald Hensrud


April 5, 2021 · Leave a Comment

Mayo Clinic Research in the news — 4/5/2021

By Elizabeth Zimmermann Elizabeth Zimmermann (@elizabethzimmermann)

Mayo Clinic research and faculty experts were featured in a variety of news stories including 3D printed surgical models, early treatment for smoldering multiple myeloma, and heart attacks in women. Study: Patients with chronic kidney disease have high risk of acute kidney injury News Medical Life Sciences, 3/30/2021 Acute kidney injury (AKI) occurred in nearly […]

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Tags: 3D printing, Alfredo Quinones-Hinojosa, Alzheimer's disease, artificial intelligence, blood cancer, chronic kidney disease, Clifford Jack Jr., COVID-19, digital health, Eric Moore, genetic testing, genetics


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


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


January 4, 2021 · Leave a Comment

Research News Roundup – Q4 2020

By Elizabeth Zimmermann Elizabeth Zimmermann (@elizabethzimmermann)

The year 2020 was a time during which medical and many other researchers around the world focused much of their attention and effort on a single topic – the SARS-CoV-2 virus and related COVID-19 viral infection. However, other research continued, findings were published, and evidence built for improvements in health outcomes and delivery of health […]

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Tags: antibiotic, artificial intelligence, brain, cancer research, cardiology, cardiovascular medicine, Center for Individualized Medicine, Center for the Science of Health Care Delivery, clinical research, clinical trials, collaboration, coronary artery disease


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