genomic medicine

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


June 15, 2021

New Mayo study validates melanoma test to help some patients avoid surgical biopsy

By Susan Murphy Susan Murphy (@susanmurphy)

More than 100,00 people in the U.S. are expected to be diagnosed with melanoma this year — double the number of cases compared to 30 years ago, according to the American Academy of Dermatology Association.  “Melanoma accounts for only about 2% of skin cancers, but it causes a majority of skin cancer deaths,” says Alexander […]

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Tags: #Dr. Alexander Meves, Melanoma


June 8, 2021

Mayo researchers study genetic basis of high cholesterol in adults

By Colette Gallagher Colette Gallagher (@colettegallagher)

In a new study published in NPJ Genomic Medicine, Mayo Clinic researchers found that genetic testing may help identify patients with high cholesterol, or hypercholesterolemia. It also may have implications for the clinical management of patients diagnosed with high cholesterol due to a genetic disorder, or familial hypercholesterolemia. “In our study, we found more than […]

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Tags: #Familial hypercholesterolemia, #High cholesterol, Dr. Iftikhar Kullo, Heart Disease, mayo clinic, Mayo Clinic Center for Individualized Medicine


June 3, 2021

How geologic rock formations inform novel treatments for kidney stones

By Christoph Bahn Christoph Bahn (@cjbahnsen)

Human kidney stones are at least as old as the Giza pyramids. The oldest known kidney stone was found in Egyptian burial satin from 4400 B.C. In 2020, Mayo Clinic processed and analyzed some 90,000 kidney stones from all over the world. That number increases each year, reflecting a global uptick in kidney stone disease. […]

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Tags: #Kidney stones


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 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


April 26, 2021

Researchers develop new technique to study ‘microcancers’ and screen cancer-fighting drugs

By Susan Murphy Susan Murphy (@susanmurphy)

By University of Illinois Urbana-Champaign Three-dimensional microscale hanging drop arrays are useful in drug discovery, regenerative medicine, stem cell research, and biotechnology. A team from the University of Illinois Urbana-Champaign’s Grainger College of Engineering and Mayo Clinic have developed a new technique for creating “microcancer” cell cultures. It allows researchers to form hundreds of microcancers […]

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April 22, 2021

Meet 5 Mayo scientists researching ‘beyond DNA’ to advance personalized medicine

By Susan Murphy Susan Murphy (@susanmurphy)

As the nation marks National DNA Day on Sunday, April 25 — a day that commemorates the discovery of DNA’s double helix in 1953 and the completion of the Human Genome Project in 2003 — Mayo Clinic physicians and researchers will continue to closely collaborate to push the boundaries of precision medicine in the areas […]

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April 13, 2021

Mayo study examines how Latino participants experience genomic medicine

By Colette Gallagher Colette Gallagher (@colettegallagher)

How do people from minority communities experience genomic medicine in diverse health-care settings? How do they integrate genetic knowledge into their understandings of health-care needs? These answers are critical to researchers as multiple efforts are underway to increase the inclusion of racial minority participants in genomic research and new forms of individualized medicine. Richard Sharp. […]

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Tags: #Mayo Clinic Biomedical Ethics Research Program, Annual Clinical Genetics Meeting, Dr. Richard Sharp, Dr. Richard Weinshilboum, mayo clinic, Mayo Clinic Center for Individualized Medicine


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