Rare diseases

November 17, 2021

Identifying inherited gene mutations in pancreatic cancer can lead to targeted therapies, better survival

By Susan Murphy Susan Murphy (@susanmurphy)

In the study, which was published in Clinical and Translational Gastroenterology, nearly 1 in 6 people diagnosed with pancreatic cancer were found to have an inherited cancer-related gene mutation that likely predisposed them to the disease. The most common genetic mutation was in the BRCA2 gene, known as a “breast cancer gene.”

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November 9, 2021

Joined at the hip: Genetic testing reveals shared cause of hip pain for 4 family members

By Susan Murphy Susan Murphy (@susanmurphy)

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 […]

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November 4, 2021

Mayo Clinic joins Rare Disease Centers of Excellence network to advance care for people coping with mysterious illnesses

By Susan Murphy Susan Murphy (@susanmurphy)

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 […]

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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


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