Rare and undiagnosed diseases

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


May 25, 2021

Gene fusion discovery in ultrarare tumor highlights potential therapeutic target

By Susan Murphy Susan Murphy (@susanmurphy)

A scientific investigation led by a team of researchers from Mayo Clinic’s Center for Individualized Medicine reveals that an ultrarare cancer called epithelioid trophoblastic tumor (ETT), which can develop in the uterus after conception, recurrently exhibits an abnormal fusion of two genes. This fusion creates an unusual protein that triggers aggressive cell growth — the […]

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Tags: #Gavin Oliver, Dr. Eric Klee


May 17, 2021

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 […]

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Tags: mayo clinic, Mayo Clinic Center for Individualized Medicine, multi-omics, Precision Medicine


May 4, 2021

Mayo Clinic Center for Individualized Medicine refreshes website

By Colette Gallagher Colette Gallagher (@colettegallagher)

The Mayo Clinic  Center for Individualized Medicine website was recently updated to reflect Mayo Clinic’s continued focus on integrating precision medicine into the practice to improve patient care. In the last decade, Mayo Clinic researchers, physicians, and staff in the Center have been collaborating closely in a comprehensive team science approach to push the boundaries […]

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Tags: mayo clinic, Mayo Clinic Center for Individualized Medicine


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