Rare and undiagnosed diseases

February 28, 2022

Young girl with rare disease gets life-changing diagnosis and targeted therapy at Mayo Clinic

By Susan Murphy Susan Murphy (@susanmurphy)

Araeya Sell, 13, has spent much of her childhood visiting her health care team and in the hospital. She has endured countless blood draws, scans, procedures and a surgery ― all in the search for answers to her complex symptoms.  After an exhaustive, nearly seven-year diagnostic odyssey, the Sells turned to Mayo Clinic.

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Tags: center for individualized medicine, Dr. Konstantinos Lazaridis, Dr. Pinto e Vairo, Genetics, genomics


February 9, 2022

Mayo Clinic develops automated system to accelerate diagnoses for patients with rare diseases

By Susan Murphy Susan Murphy (@susanmurphy)

A team of genomics experts within Mayo Clinic’s Center for Individualized Medicine has developed an automated system for tracking new scientific knowledge from around the world of pathogenic genetic variants and applying it to Mayo Clinic patients with rare and undiagnosed diseases.

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Tags: center for individualized medicine, Dr. Alejandro Ferrer, Dr. Eric Klee


December 28, 2021

10 Significant Mayo Clinic Center for Individualized Medicine studies of 2021

By Susan Murphy Susan Murphy (@susanmurphy)

It has been an impactful year of genomic and multi-omic research and scientific discoveries in Mayo Clinic’s Center for Individualized Medicine. While much focus in 2021 was centered on advancing the knowledge of COVID-19, Mayo scientists and physician have also worked to develop individualized treatments, prevention measures and diagnostics for patients with rare and undiagnosed diseases, cancer and other illnesses. 

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Tags: center for individualized medicine, DNA Testing, gene sequencing, Genetics, genomic medicine, genomics


October 25, 2021

‘We’ve only just begun to glimpse what is possible’ — and more thought-provoking quotes from Mayo Clinic’s 10th Annual Individualizing Medicine Conference

By Susan Murphy Susan Murphy (@susanmurphy)

Genomics experts highlighted the latest cutting-edge precision medicine strategies to accelerate medical breakthroughs at the 10th Annual Mayo Clinic Individualizing Medicine Conference. More than 350 researchers, clinicians and health care workers from across the world attended the virtual conference to learn firsthand how scientists are advancing the frontiers of individualized medicine. “We truly now have […]

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Tags: artificial intelligence, cancer genomics, genomic medicine, individualized 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


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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