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 ‘hereditary diseases’

January 12, 2021

Physicians have new guidelines for managing rare genetic, metabolic disorders

By Susan Murphy Susan Murphy

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

Research News Roundup – Q4 2020

By Elizabeth Zimmermann Elizabeth Zimmermann

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 28, 2020

Mayo study explores benefits of genetic testing for healthy people

By Colette Gallagher Colette Gallagher

More than 1 in 10 people who had predictive genomic testing ― testing that looks for genetic mutations in otherwise healthy people ― learned that they had a hereditary risk for a health condition and may benefit from preventive care, according to a recent study published in Mayo Clinic Proceedings. This study is the first to […]

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Tags: Center for Individualized Medicine, gene mutation, genetic counseling, genetic testing, genomics, hereditary diseases, individualized medicine, Mayo Clinic Proceedings, personalized medicine


December 10, 2020

Consultative Medicine Clinic — The front door for adult patients with complex & serious illnesses

By Advancing the Science contributor Advancing the Science contributor

Every day the door to the Division of General Internal Medicine’s Consultative Medicine Clinic at Mayo Clinic in Rochester opens, and patients from around the country with complex and serious illnesses enter. More than 8,000 of them per year are seen for unexplained masses and weight loss, undiagnosed rheumatologic and neurologic disorders, and medical mysteries […]

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Tags: Caroline Davidge-Pitts, collaboration, diagnostic odyssey, Elizabeth Windgassen, endocrinology, Giuseppe Lanzino, hereditary diseases, I. Darin Carabenciov, Nancy Dawson, Nerissa Collins, neurology, research


October 12, 2020

States apart, two brothers’ medical mysteries solved through genetic testing

By Susan Murphy Susan Murphy

When El Paso, Texas, resident Leticia “Letty” Gutierrez met her husband David, she knew he was one in a million. The two have been married for 28 years and built a life together with three kids. Letty, a high school English teacher, says she was especially attracted to David for his wit. But a sudden […]

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Tags: ALS, amyotrophic lateral sclerosis, Center for Individualized Medicine, dementia, gene mutation, gene varient, genetic testing, hereditary diseases, medical research, Radhika Dhamija


October 9, 2020

Mayo Clinic Research in the news — 10/9/2020

By Elizabeth Zimmermann Elizabeth Zimmermann

While Mayo Clinic has long been known as a clinical powerhouse, only more recently has the world actively noted our Research and Education shields. This increased awareness has led to visibility for both our research and our researchers in national and international news and education forums. In the past week, they have been featured in […]

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Tags: Alzheimer's disease, amnesia, antibodies, Barry Borlaug, biomarkers, biostatistics, blood pressure, Bobbi Pritt, clinical trials, Colin West, community engagement, Cornelius Thiels


September 30, 2020

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

By Susan Murphy Susan Murphy

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


August 21, 2020

Mayo Clinic Research in the news — 8/21/2020

By Elizabeth Zimmermann Elizabeth Zimmermann

A wide range of Mayo Clinic expertise was highlighted in the past week, with local, national and international media outlets quoting researchers and referring to Mayo Clinic research findings. Following are a selection of these news articles, with a brief excerpt and link to the full story on the appropriate websites. For ease of review, […]

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Tags: Alzheimer's disease, Andrew Badley, blood pressure, Bobbi Pritt, Brian Mohney, cardiology, Centers for Disease Control and Prevention, COVID-19, diabetes, emergency department, epidemiology, genetics


August 20, 2020

Could population genetic screening improve public health?

By Colette Gallagher Colette Gallagher

Hereditary BRCA-related breast and ovarian cancer, Lynch syndrome and familial hypercholesterolemia are estimated to be relatively prevalent in the general population but poorly found using traditional risk screening. In a typical medical practice, genetic testing for these conditions is based on personal or family history, ethnic background or other demographic characteristics, that may not always […]

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Tags: breast cancer, cancer genomics, Center for Individualized Medicine, genetic testing, genetics, hereditary cancer, hereditary diseases, Lynch syndrome, Matthew Ferber, ovarian cancer, population health


February 4, 2020

Research News Roundup–January 2020

By Elizabeth Zimmermann Elizabeth Zimmermann

If you’re interested in genetics, diabetes, transplant or robotics, January was a good month. The Mayo Clinic Research News Roundup includes brief summaries and links to these and a tidy sum of other recent research-related news releases from Mayo Clinic. You also might find some other handy resources. Read on for more information from Mayo Clinic Research. Mayo medical […]

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Tags: cardiology, Center for the Science of Health Care Delivery, diabetes, genetic testing, health care value, heart failure, hereditary diseases, Mayo Clinic Proceedings, Michael Ackerman, neurology, pharmacy, pulmonary and critical care medicine


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