Items Tagged ‘Dr. Margot Cousin’

July 1, 2021

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 […]

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Tags: #neurological diseases, Dr. Margot Cousin, genomics


August 27, 2019

Meet Margot Cousin, Ph.D.: Genetic detective, researcher, member of the A-team

By Sharon Rosen Sharon Rosen (@sharonhrosen)

When a young boy arrived at Mayo Clinic after repeatedly experiencing infections that caused a fever and a rapid loss of liver function, clinicians turned to genetic testing to find the cause of the illness. Margot Cousin, Ph.D., a translational genomics researcher in the Mayo Clinic Center for Individualized Medicine Translational Omics Program was among […]

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Tags: #liver cancer, acute liver failure, American Association for the Study oF Liver Disease, center for individualized medicine, Dr. Eric Klee, Dr. Konstantinos Lazaridis, Dr. Margot Cousin, Genetic Testing, genomics, Genomics Odyssey Board, individualized medicine, Liver disease


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