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 ‘gene mutation’

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 14, 2021 · Leave a Comment

Mayo Clinic Research in the news — 6/14/2021

By Advancing the Science contributor Advancing the Science contributor (@advancingthescience)

Read on for news of the week that includes Mayo Clinic Research and research experts. Topics include a new Alzheimer’s medication, COVID-19, and various regenerative medicine innovations. US approves first new Alzheimer’s drug in 20 years  BBC, 6/8/2021 A controversial drug to treat Alzheimer’s disease has been approved by the Food and Drug Administration in […]

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Tags: aging, Alzheimer's disease, Andre Terzic, animal model, biomedical ethics, brain, BRCA1, breast cancer, cancer, Center for Regenerative Medicine, Cheryl Willman, concussion


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 1, 2021 · Leave a Comment

Mayo Clinic Research in the news — 2/1/2021

By Elizabeth Zimmermann Elizabeth Zimmermann (@elizabethzimmermann)

Mayo Clinic faculty continue to share their expertise across a broad range of medical and health care topics, including women’s health, concussion, disparities in care, and the never abating COVID-19. Mayo Clinic Indicates Age Has Distinct Influences on Sex-Related Outcomes After Heart Attack Pharmacy Times, 1/27/2021 Researchers at the Mayo Clinic have found ways that […]

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Tags: Alex Adjei, Ali Duarte-Garcia, breast cancer, CAR-T, Centers for Disease Control and Prevention, concussion, COVID-19, depression, diabetes, drug discovery, gene mutation, Grzegorz Nowakowski


January 25, 2021 · Leave a Comment

Mayo Clinic Research in the news — 1/25/2021

By Elizabeth Zimmermann Elizabeth Zimmermann (@elizabethzimmermann)

From acupuncture, breast cancer, diabetes, euthyroid … all the way to Zika, Mayo Clinic research and experts are featured in the news. Also find COVID-19 observations, advice and findings. The Rochester Epidemiology Project: “The greatest medical resource you’ve never heard of” Rochester Magazine, 1/22/2021 The Rochester Epidemiology Project has changed the way we view ADHD. […]

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Tags: acupuncture, acute flaccid myelitis, ADHD, Alzheimer's disease, amyloidosis, artificial intelligence, biomarkers, breast cancer, Brent Bauer, cancer, cancer genomics, cannabidiol (CBD)


January 11, 2021 · Leave a Comment

Mayo Clinic Research in the news — 1/11/2021

By Elizabeth Zimmermann Elizabeth Zimmermann (@elizabethzimmermann)

In the news you’ll find Mayo Clinic research and faculty cited on a variety of topics including women’s health, patient consent, migraine, palliative care and of course COVID-19. Opinion: Preventing Alzheimer’s in Women Requires a Lifespan Approach Being patient, 1/8/2021 Carolee Lee of WHAM! (Women’s Health Access Matters) and Michelle M. Mielke at the Specialized […]

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Tags: Alzheimer's disease, Amy Kotsenas, artificial intelligence, Barrett's esophagus, COVID-19, data science, esophageal cancer, Frank Porreca, gene mutation, genetic testing, Hilary DuBrock, lung cancer


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


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 2, 2020 · Leave a Comment

Conquering cancer by targeting its genetic abnormalities

By Susan Murphy Susan Murphy (@susanmurphy)

Joanne Garnett has harrowing memories of that life-changing day back in 1981. She was a 39-year-old land use planner living in Wyoming when she received a call from her doctor confirming she had uterine cancer.  “I was shocked, and it was strange because I didn’t fit any profile for uterine cancer,” Garnett recalls. “I got a […]

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Tags: BRCA2, breast cancer, cancer genomics, Center for Individualized Medicine, clinical research, DNA, gene mutation, genetic testing, hereditary cancer, Lynch syndrome, Mayo Clinic Cancer Center, Niloy "Jewel" Samadder


October 20, 2020 · Leave a Comment

Delivering innovative stem cell therapy to slow vision loss

By Susan Buckles Susan Buckles (@susanbuckles)

The regenerative eye scientist, Alan Marmorstein, Ph.D., is drawn to research by the need to find new cures for diseases. As an aspiring researcher, he never envisioned his investigative journey would take him down the path of testing ways to prevent or restore loss of eyesight. However, a post-doctoral lab assignment, a National Eye Institutes […]

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Tags: age-related macular degeneration, Alan Marmorstein, Center for Regenerative Medicine, degenerative disease, gene mutation, Jarel Gandhi, ophthalmology, Raymond Iezzi


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