Rare diseases

June 21, 2022

Scientists unravel genetic mystery of rare neurodevelopmental disorder, provide definitive diagnoses to 21 families worldwide

By Susan Murphy Susan Murphy (@susanmurphy)

A collaborative team of scientists led by Mayo Clinic’s Center for Individualized Medicine has discovered 15 additional genetic mutations in the KCNK9 gene that cause a neurodevelopmental syndrome. Symptoms of the disorder range from speech and motor impairment to behavioral abnormalities, intellectual disability and distinctive facial features.

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Tags: #neurological disorders, center for individualized medicine, Dr. Margot Cousin, gene sequencing, genomics, medical research, personalized medicine


June 13, 2022

Native American’s genetic test results at Mayo Clinic reveal surprise lineage to ancient tribe   

By Susan Murphy Susan Murphy (@susanmurphy)

Mayo Clinic working to advance health equity among Native Americans, Alaska Natives Schyler Martin, a member of the Munsee Band of Mohicans in Minnesota, was surprised and excited when his recent Mayo Clinic genetic test results revealed he has distinctive DNA lineage to an ancient group of Native Americans known as the Beringians. According to […]

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Tags: center for individualized medicine, DNA Testing, Dr. Konstantinos Lazaridis, Genetic Testing, Genetics, genomic medicine, individualized medicine, medical research, tapestry


April 25, 2022

On National DNA Day, Mayo Clinic researchers put genomics into action to advance individualized medicine

By Susan Murphy Susan Murphy (@susanmurphy)

National DNA Day on Monday, April 25, marks the discovery of DNA’s double helix in 1953 and the Human Genome Project’s completion in 2003.  For the first time, a team of scientists led by the National Institutes of Health has finished sequencing an entire human genome — all of the roughly 3 billion bases of […]

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Tags: Dr. Konstantinos Lazaridis, Genetic Sequencing, Genetic Testing, Genetics, genome, Human Genome Project


April 4, 2022

New Mayo Clinic genetic testing service for childhood short stature

By Colette Gallagher Colette Gallagher (@colettegallagher)

Mayo Clinic’s Division of Pediatric Endocrinology and Metabolism and Center for Individualized Medicine have developed a new genetic testing service and model for pediatric idiopathic short stature. That’s when a child’s height is below the corresponding mean height for a given age, sex and population. “We were excited to help families find concrete genetic causes […]

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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


January 27, 2022

Navigating Life’s Journey with the Right Topographical Map

By Susan Murphy Susan Murphy (@susanmurphy)

Combining genetic sequencing, life-style modification, and personalized drug therapy will transform health care. John Halamka, M.D., president, Mayo Clinic Platform, and Paul Cerrato, senior research analyst and communications specialist, Mayo Clinic Platform, wrote this article. While still prevalent, the one-size-fits-all health care is slowly giving way to a more precise, personalized approach that takes into […]

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January 13, 2022

Minnesota Partnership awards 5 collaborative research grants for 2022

By Colette Gallagher Colette Gallagher (@colettegallagher)

The Minnesota Partnership for Biotechnology and Medical Genomics have announced their 2022 research awardees. This marks the partnership’s 18th year of spearheading new scientific ideas from Minnesota to improve the health of, and health care for, Minnesotans.

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Tags: center for individualized medicine, genomics, mayo clinic, medical research, personalized medicine


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


November 22, 2021

Gather your family health history this Thanksgiving; it could save your life

By Susan Murphy Susan Murphy (@susanmurphy)

Thanksgiving Day marks Family Health History Day, an annual national public health campaign to encourage people to better understand what health characteristics run in their families. Has your mother, sister or grandmother had breast or ovarian cancer? Has your father had prostate cancer? Is there a history of colon cancer, diabetes or high cholesterol in your family? If so, you also could be at risk. John Presutti, D.O., a Mayo Clinic family medicine physician, says don’t just talk about your family health history. Act on it. It could save your life.

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Tags: center for individualized medicine


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