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’

June 29, 2021 · Leave a Comment

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 · Leave a Comment

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 · Leave a Comment

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 · Leave a Comment

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 · Leave a Comment

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 · Leave a Comment

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


January 12, 2021 · Leave a Comment

Physicians have new guidelines for managing rare genetic, metabolic disorders

By Susan Murphy Susan Murphy (@susanmurphy)

Physicians now have a blueprint for diagnosing and managing two specific rare inherited metabolic diseases within a group of nearly 150 congenital disorders of glycosylation. These diseases can cause serious and sometimes fatal malfunctions of several organs at or before birth, as well as chronic debilitating symptoms in adults.  The consensus guidelines were published in […]

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Tags: Center for Individualized Medicine, clinical research, Eva Morava-Kozicz, genetics, genomics, hereditary diseases, metabolomics, rare disease


January 4, 2021 · Leave a Comment

Research News Roundup – Q4 2020

By Elizabeth Zimmermann Elizabeth Zimmermann (@elizabethzimmermann)

The year 2020 was a time during which medical and many other researchers around the world focused much of their attention and effort on a single topic – the SARS-CoV-2 virus and related COVID-19 viral infection. However, other research continued, findings were published, and evidence built for improvements in health outcomes and delivery of health […]

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Tags: antibiotic, artificial intelligence, brain, cancer research, cardiology, cardiovascular medicine, Center for Individualized Medicine, Center for the Science of Health Care Delivery, clinical research, clinical trials, collaboration, coronary artery disease


December 23, 2020 · Leave a Comment

Mayo study shows gene sequencing, translational research improves diagnosis rates

By Colette Gallagher Colette Gallagher (@colettegallagher)

Many patients with unsolved medical mysteries often undergo genetic testing, but the tests do not always provide a conclusive diagnosis. The term “diagnostic odyssey” describes the series of clinical consultations and testing that patients with undiagnosed disorders often receive in search of a genetic diagnosis. To help these patients, Mayo Clinic researchers embarked on a […]

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Tags: Center for Individualized Medicine, clinical research, diagnostic odyssey, Eric Klee, genetic testing, genome, Konstantinos Lazaridis, rare disease


September 30, 2020 · Leave a Comment

Mayo Clinic researcher finds potential target to control rare genetic disease that strikes in teen years

By Susan Murphy Susan Murphy (@susanmurphy)

Patients with a rare genetic disease called familial adenomatous polyposis, (FAP), often face debilitating challenges. Typically striking in the early teenage years, FAP is characterized by hundreds to thousands of tiny polyps forming in the colon and rectum and leading to a nearly 100% percent likelihood that they will get colon cancer without a life-altering surgery […]

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Tags: cancer screening, Center for Individualized Medicine, clinical trials, colon cancer, colon polyp, colorectal cancer, gene mutation, genetic testing, hereditary diseases, Niloy "Jewel" Samadder, rare disease


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