Rare diseases

April 6, 2021 · Leave a Comment

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 · Leave a Comment

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 · Leave a Comment

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


January 21, 2020 · Leave a Comment

Patient’s premature aging symptoms tied to shorter DNA strands

By Colette Gallagher Colette Gallagher (@colettegallagher)

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: #Mrinal Patnaik, center for individualized medicine, Genetics, genomics, hematology, hyperextensible joints, low blood count, mayo clinic, premature aging, short telemores syndrome


January 9, 2020 · Leave a Comment

Mayo Clinic to sequence 100K participants to build genomic database for improved care and research in collaboration with Helix

By Colette Gallagher Colette Gallagher (@colettegallagher)

Mayo Clinic is creating a library of genomic sequencing data on 100,000 consented Mayo Clinic participants to advance research and patient care. “We believe that whole exome sequencing has the potential to reveal predispositions to health problems and enable earlier use of preventive measures throughout a person’s lifespan,” says  Keith Stewart, M.B., Ch.B., Carlson and […]

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December 11, 2019 · Leave a Comment

In a first, researchers sequence single bacterial cells, paving path for rapid sepsis test

By Susan Murphy Susan Murphy (@susanmurphy)

For the first time, Mayo Clinic researchers are sequencing the genomic contents of single bacterial cells. The technique may pave the way for a potential lifesaving test for sepsis, a serious and sometimes deadly condition caused by the body’s response to an infection. Rather than waiting for days to identify the source of a patient’s […]

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Tags: #sepsis, bacteria, bacterial cells, Genome Sequencing, individualized medicine


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