Rare diseases

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


November 17, 2021

Identifying inherited gene mutations in pancreatic cancer can lead to targeted therapies, better survival

By Susan Murphy Susan Murphy (@susanmurphy)

In the study, which was published in Clinical and Translational Gastroenterology, nearly 1 in 6 people diagnosed with pancreatic cancer were found to have an inherited cancer-related gene mutation that likely predisposed them to the disease. The most common genetic mutation was in the BRCA2 gene, known as a “breast cancer gene.”

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November 9, 2021

Joined at the hip: Genetic testing reveals shared cause of hip pain for 4 family members

By Susan Murphy Susan Murphy (@susanmurphy)

Before they went through testing at Mayo Clinic Laboratories, Barbara Domaille, Deborah Neville, Pamela Neville and Rylie Ronnenberg thought there could be a genetic connection to the hip problems they shared. After testing, they knew for sure. By Cory Pedersen As family members, Barbara Domaille, Deborah Neville, Pamela Neville and Rylie Ronnenberg share many things […]

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November 4, 2021

Mayo Clinic joins Rare Disease Centers of Excellence network to advance care for people coping with mysterious illnesses

By Susan Murphy Susan Murphy (@susanmurphy)

Mayo Clinic has joined a new Rare Disease Centers of Excellence network, which consists of a select group of 31 medical centers across the U.S. This network, which is led by the National Organization for Rare Disorders (NORD), seeks to: Promote knowledge sharing between experts across the U.S. Connect patients to appropriate specialists, regardless of […]

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July 21, 2021

Researchers review how sex steroids change gut, vaginal microbiome

By Colette Gallagher Colette Gallagher (@colettegallagher)

It is well-established that the human body’s microbiome ― the bacteria in the gut ― dramatically affects health and disease. However, the role of the gut in women’s health outcomes is largely unknown. Mayo Clinic and Wellesley College researchers focused on how the interactions of steroids on gut and vaginal microbiomes influence women’s health outcomes […]

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Tags: Dr. Marina Walther-Antonio, Gut Microbiome, Mayo Clinic Center for Individualized Medicine, vaginal microbiome


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


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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