Rare diseases

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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April 6, 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: #gene therapy, rare disease


January 6, 2021

Researchers define best practices of genome sequencing for patients with rare diseases

By Colette Gallagher Colette Gallagher (@colettegallagher)

Genome sequencing has shown promise in becoming a first-tier diagnostic test for patients with rare genetic disorders, but standards addressing the definition and deployment of a best-in-class test are lacking. Two recent manuscripts published in npj Genomic Medicine present consensus recommendations on clinical genome sequencing analytical validation and clinical utility to diagnose patients with suspected […]

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Tags: mayo clinic


December 30, 2020

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: congenital disorders of glycosylation, metabolic disorders, rare disease


December 24, 2020

2020 Mayo Clinic Precision Medicine Advances

By Susan Murphy Susan Murphy (@susanmurphy)

This year, Mayo Clinic’s Center for Individualized Medicine was at the forefront of COVID-19 research, working to unravel the complexities of the virus in order to discover life-saving treatments and prevention — from testing to building a pandemic response biobank to identifying COVID-19 strains within individual patients. But even in the midst of the pandemic, […]

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Tags: #Artificial Intelligence, Cancer Research, Genetics, genomics, individualized medicine, multi-omics, Research


December 8, 2020

Mayo study explores benefits of genetic testing for healthy people

By Colette Gallagher Colette Gallagher (@colettegallagher)

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 […]

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Tags: #predictive genomics, Genetic Testing, Jennifer L. Anderson, mayo clinic, Mayo Clinic Center for Individualized Medicine, Mayo Clinic Proceedings


September 29, 2020

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

By Colette Gallagher Colette Gallagher (@colettegallagher)

By Noelle Schon 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. […]

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Tags: #Dr. Radhika Dhamija, ALS, body myopathy, frontotemporal dementia, Genetic Testing, mayo clinic, Mayo Clinic Center for Individualized Medicine, rare disease


September 10, 2020

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 […]

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Tags: Genetic Testing, Genetics, hereditary cancer, hereditary colon cancer, individualized medicine


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