genetic testing

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 […]

View full entry

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 […]

View full entry

Tags: #neurological diseases, Dr. Margot Cousin, genomics


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 […]

View full entry

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 […]

View full entry

Tags: congenital disorders of glycosylation, metabolic disorders, rare disease


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 […]

View full entry

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. […]

View full entry

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


Contact Us · Privacy Policy