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’

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 23, 2020

Mayo study shows gene sequencing, translational research improves diagnosis rates

By Colette Gallagher Colette Gallagher

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

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


March 10, 2020

Patient’s premature aging symptoms tied to shorter DNA strands

By Colette Gallagher Colette Gallagher

At only 27-years-old, Morgan Cook recalls the days when she had an abundant amount of energy. “I would lift weights. I would do cardio. I would – you name it, I would do it. I was a lot more active,” says Cook. “I felt like I was able to do more things with friends. I […]

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Tags: Center for Individualized Medicine, DNA, genetic counseling, genetic testing, genetics, Mrinal Patnaik, rare disease, short telomere syndrome


February 7, 2020

Toxic Protein, Linked to Alzheimer’s and Other Neurodegenerative Diseases, Exposed in New Detail

By Advancing the Science contributor Advancing the Science contributor

By Zuckerman Institute Communications Staff The protein tau has long been implicated in Alzheimer’s and a host of other debilitating brain diseases. But scientists have struggled to understand exactly how tau converts from its normal, functional form into a misfolded, harmful one. Now, researchers at Columbia University’s Zuckerman Institute and Mayo Clinic in Florida have […]

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Tags: Alzheimer's disease, brain, collaboration, Leonard Petrucelli, neurology, rare disease, tau protein


January 22, 2020

What’s Next for The Research of the Future

By Sara Tiner Sara Tiner

Breakthroughs in medical science rarely burst on the scene. Behind every advance is years of work by dogged researchers who nurtured the seed of idea until it flowered, bore fruit and materialized into a better treatment, device or therapy for patients. Here is where those seeds start: More than a dozen projects related to cancer, […]

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Tags: Anthony Windebank, basic science, cancer, cancer genomics, Center for Biomedical Discovery, Christopher Evans, Christopher Groen, Daniel Billadeau, Daniel Tschumperlin, discovery research, Eva Morava-Kozicz, fibrosis


October 4, 2019

Chemo first for better outcomes in bile duct cancer, says new research

By Elizabeth Zimmermann Elizabeth Zimmermann

Oncology care teams frequently use chemotherapy along with surgery to treat cholangiocarcinoma, or bile duct cancer. However, until now, little evidence existed regarding if and when receiving chemotherapy was likely to have the best effect. Recently Mayo Clinic researchers found that patients who received chemotherapy before surgery to remove their bile duct cancer were more […]

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Tags: Amit Mahipal, bile ducts, cancer, Center for the Science of Health Care Delivery, chemotherapy, cholangiocarcinoma, gastrointestinal cancer, hematology, Mayo Clinic Cancer Center, oncology, rare disease, Siddhartha Yadav


May 7, 2019

Rare, undiagnosed diseases are relatively common

By Susan Buckles Susan Buckles

As many as 25 million Americans – about 1 in 13 people – suffer from a rare, undiagnosed condition.* April 29 was designated Undiagnosed Disease Day to raise awareness that collectively, rare diseases are relatively common. People with a rare disease often spend years visiting different medical providers and clinics seeking answers to unexplained conditions. […]

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Tags: Center for Individualized Medicine, Eric Klee, genome, Heidi Rehm, rare disease


April 8, 2019

The newest building block for understanding rare disease

By Elizabeth Zimmermann Elizabeth Zimmermann

One of the basic building blocks of understanding disease is epidemiologic research. In this science, researchers seek to understand how often a condition occurs in a particular population, and to identify successful ways to treat or prevent disease. In a study published April 8 in Arthritis & Rheumatology, a team of Mayo Clinic researchers led […]

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Tags: Ali Duarte-Garcia, Center for the Science of Health Care Delivery, epidemiology, Eric Matteson, immune system, rare disease, rheumatology, Rochester Epidemiology Project


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