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 ‘Margot Cousin’

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


July 14, 2021 · Leave a Comment

Mayo Clinic research in the news — 7/12/2021

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

Research and expertise from Mayo Clinic have been in the news on topics from marijuana, sleep, disparities, dementia and doses of vaccine. Read more. New York Times, Can Marijuana Make You a Better Athlete?  … “If you look at any test of physical performance, there’s either no data, it’s a wash, or marijuana makes it worse,” […]

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Tags: addiction research, alcoholism, Alejandro Rabinstein, Alyx Porter, Alzheimer's disease, artificial intelligence, autoimmune disorder, Bhanu Kolla, breast cancer, cancer vaccine, cardiology, Center for Individualized Medicine


September 19, 2017 · Leave a Comment

CARING FOR KARTER–Genetic sleuths never give up hunt to identify Minnesota boy’s condition

By Colette Gallagher Colette Gallagher (@colettegallagher)

Karter Malcomson coos and swivels his head when he hears his name in his mother’s reassuring voice. “You know we’re talking about you, don’t you?” Karter’s mom, Kerrie, says. “Karter is a very happy boy. He’s very content. He’s very interested in everything, especially people. He’s definitely a people person.” His father, Zane, spins Karter […]

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Tags: Center for Individualized Medicine, Charu Kaiwar, clinical informatics, collaboration, Eric Klee, genetic testing, genomics, Gianrico Farrugia, health sciences research, Margot Cousin, Nicole Boczek, Pavel Pichurin


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