Rare diseases
November 9, 2021
Joined at the hip: Genetic testing reveals shared cause of hip pain for 4 family members
By Susan Murphy 
Before they went through testing at Mayo Clinic Laboratories, Barbara Domaille, Deborah Neville, Pamela Neville and Rylie Ronnenberg thought there could be a genetic connection to the hip problems they shared. After testing, they knew for sure. By Cory Pedersen As family members, Barbara Domaille, Deborah Neville, Pamela Neville and Rylie Ronnenberg share many things […]
November 4, 2021
By Susan Murphy
Mayo Clinic has joined a new Rare Disease Centers of Excellence network, which consists of a select group of 31 medical centers across the U.S. This network, which is led by the National Organization for Rare Disorders (NORD), seeks to: Promote knowledge sharing between experts across the U.S. Connect patients to appropriate specialists, regardless of […]
July 21, 2021
Researchers review how sex steroids change gut, vaginal microbiome
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 […]
Tags: Dr. Marina Walther-Antonio, Gut Microbiome, Mayo Clinic Center for Individualized Medicine, vaginal microbiome
July 1, 2021
By Susan Murphy
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 […]
April 22, 2021
Meet 5 Mayo scientists researching ‘beyond DNA’ to advance personalized medicine
By Susan Murphy
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 […]
April 6, 2021
Mayo researchers reveal gene therapy path for treating children with rare, fatal genetic disease
By Susan Murphy
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 […]
Tags: #gene therapy, rare disease
January 6, 2021
Researchers define best practices of genome sequencing for patients with rare diseases
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 […]
Tags: mayo clinic
December 30, 2020
Physicians have new guidelines for managing rare genetic, metabolic disorders
By 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 […]
Tags: congenital disorders of glycosylation, metabolic disorders, rare disease
December 24, 2020
2020 Mayo Clinic Precision Medicine Advances
By Susan Murphy
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, […]
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
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 […]
Tags: #predictive genomics, Genetic Testing, Jennifer L. Anderson, mayo clinic, Mayo Clinic Center for Individualized Medicine, Mayo Clinic Proceedings