Advancing the Science

Mayo Clinic Medical Science Blog – an eclectic collection of research- and research education-related stories: feature stories, mini news bites, learning opportunities, profiles and more from Mayo Clinic.

Items Tagged ‘rare disease’

March 30, 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.  “It started in kindergarten when Araeya just kept getting bladder infections,” says her mother, Nicole […]

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Tags: Center for Individualized Medicine, Filippo Pinto e Vairo, genetic testing, genetics, genomics, individualized medicine, Konstantinos Lazaridis, rare disease, William Faubion Jr.


February 16, 2022

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

By Susan Murphy Susan Murphy (@susanmurphy)

Mayo Clinic researchers are working to accelerate the diagnoses of rare diseases and renew hope for patients whose symptoms have defied an explanation ― sometimes for years or even decades.    The team of genomics experts has developed an automated system called RENEW for tracking new scientific knowledge from around the world of pathogenic genetic variants and […]

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Tags: Alejandro Ferrer, biomedical informatics, Center for Individualized Medicine, Eric Klee, genomics, hematology, rare disease


January 12, 2022

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 physicians have also worked to develop individualized treatments, prevention measures and diagnostics for patients with rare and undiagnosed diseases, […]

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Tags: artificial intelligence, cancer research, Center for Individualized Medicine, genetic testing, genomics, rare disease


November 2, 2021

Unlocking new genetic testing treatment pathways to save time, lives and resources

By Colette Gallagher Colette Gallagher (@colettegallagher)

Genomics experts worldwide released a paper highlighting advances in rare disease, cancer, population health and carrier screening at the 10th Annual Individualizing Medicine Conference on Saturday, Oct. 9. “The use cases we explored in the paper, ‘The Economic Analysis of the Value of Genetic Testing’ are only the tip of the iceberg in the realm of precision medicine,” says co-author Konstantinos […]

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Tags: genetic testing, Individualizing Medicine Conference, Konstantinos Lazaridis, liver cancer, lung cancer, population health, precision medicine, rare disease


June 29, 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: cancer genomics, Center for Individualized Medicine, precision medicine, rare disease, uterine cancer


June 28, 2021

Mayo Clinic Research in the news — 6/28/2021

By Advancing the Science contributor Advancing the Science contributor (@advancingthescience)

Vaping, medical AI, the challenges of serving patients with cancer and diabetes, current COVID-19 vaccine and long haul information, and a wide selection of other topics are covered in this week’s news. The Vaping Study You Haven’t Heard Of Slate, 6/25/2021 A report from the Mayo Clinic looked at 70,000 patients and found no link […]

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Tags: Alzheimer's disease, antibodies, artificial intelligence, Ashley Wentworth, autoimmune disorder, Barbara Barry, bioethics, biomedical ethics, cancer, cardiovascular disease, Center for Regenerative Medicine, COVID-19


April 22, 2021

Mayo researchers reveal gene therapy path for treating children with rare, fatal genetic disease

By Susan Murphy Susan Murphy (@susanmurphy)

A gene therapy strategy developed by Mayo Clinic researchers could offer a potential treatment for a rare and fatal genetic disease that often sickens babies in their first days of life. The disease, propionic acidemia, occurs in 1 in 100,000 live births in the U.S. There is no cure. “As soon as the babies start […]

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Tags: Center for Individualized Medicine, gene therapy, genomics, precision medicine, rare disease


April 20, 2021

Mayo researchers use AI to reveal causes of complex diseases

By Susan Murphy Susan Murphy (@susanmurphy)

Researchers within Mayo Clinic’s Center for Individualized Medicine have developed an artificial intelligence (AI) platform that can uncover causal drivers and relationships embedded within complex biomedical data. Nicholas Chia, Ph.D., I. John Kalantari, Ph.D., and Kia Khezeli, Ph.D., recently tested their machine-learning framework, called Causal Relation and Inference Search Platform (CRISP) on multiomic colorectal cancer samples […]

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Tags: artificial intelligence, cancer, Center for Individualized Medicine, colorectal cancer, data science, genomics, I. John Kalantari, Kia Khezeli, microbiome, NASA, Nicholas Chia, rare disease


March 10, 2021

Mayo Clinic physician cracks patient’s mysterious illness with epigenetics technology

By Susan Murphy Susan Murphy (@susanmurphy)

Kenneth Hobby assumed his fever, fatigue and aching pains on that day in May 2018 were from another bout of malaria. He was visiting Zambia in southern Africa — the stomping grounds of his childhood and a place where the mosquito-borne parasite is common. He had returned to the vast safari lands, as he often […]

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Tags: blood disease, Center for Individualized Medicine, DNA, epigenetics, genomics, hematology, Mrinal Patnaik, rare disease


March 3, 2021

Mayo Clinic investigators pursue every clue to solve patients’ rare diseases

By Susan Murphy Susan Murphy (@susanmurphy)

When patients’ illnesses are a mystery and their symptoms have defied a diagnosis, they often turn to Mayo Clinic. There a team of genomic-oriented clinicians and researchers within the Center for Individualized Medicine pursue every possible clue to solve these complex cases.  As many as 30 million Americans have a rare disease. Many patients search […]

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Tags: biobank, biomarkers, Center for Individualized Medicine, clinical research, DNA, Filippo Pinto e Vairo, gene mutation, genetic counseling, genetic testing, genomics, Konstantinos Lazaridis, rare disease


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