Items Tagged ‘mayo clinic’

January 28, 2021

First hybrid gene therapy shows early promise in treating long QT syndrome

By Colette Gallagher Colette Gallagher

In a new study published in Circulation, Mayo Clinic researchers provide the first preclinical, proof-of-concept study for hybrid gene therapy in long QT syndrome, a potentially lethal heart rhythm condition. Researchers demonstrated its potential therapeutic efficacy in two in vitro model systems using beating heart cells reengineered from the blood samples of patients with type […]

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Tags: #Dr. Michael Ackerman, #gene therapy, #News release, Circulation, congenital heart disease, Genetics, long QT syndrome, mayo clinic, Mayo Clinic Center for Individualized Medicine, Minnesota News Releases


January 6, 2021

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

By Colette Gallagher Colette Gallagher

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 8, 2020

Mayo study explores benefits of genetic testing for healthy people

By Colette Gallagher Colette Gallagher

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


November 30, 2020

Mayo study shows gene sequencing, translational research improves diagnosis rates

By Colette Gallagher Colette Gallagher

Many patients with unsolved medical mysteries often undergo genetic testing, but the tests do not always provide a conclusive diagnosis. The term “diagnostic odyssey” describes the series of clinical consultations and testing that patients with undiagnosed disorders often receive in search of a genetic diagnosis. To help these patients, Mayo Clinic researchers embarked on a […]

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Tags: diagnostic odyssey, Dr. Eric Klee, Dr. Konstantinos Lazaridis, gene sequencing, mayo clinic, Mayo Clinic Center for Individualized Medicine, translational omics


November 23, 2020

Diversifying genomic medicine beyond genes

By Colette Gallagher Colette Gallagher

The work to improve health and health care is ongoing and ever-evolving. It takes many shapes, from streamlining delivery to improving care and pursuing inclusive medical research to help develop precision medicine for all populations. This was a key element of the Arizona Return of Actionable Variants Empirical, or RAVE, study, which brought genomic medicine to […]

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Tags: Arizona State University, Dr. Iftikhar Kullo, Dr. Richard Sharp, eMERGE Network, Genetics, mayo clinic, Mayo Clinic Center for Individualized Medicine, Mountain Park Health Center


September 29, 2020

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

By Colette Gallagher Colette Gallagher

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


August 12, 2020

Could population genetic screening improve public health?

By Colette Gallagher Colette Gallagher

Hereditary BRCA-related breast and ovarian cancer, Lynch syndrome and familial hypercholesterolemia are estimated to be relatively prevalent in the general population but poorly found using traditional risk screening. In a typical medical practice, genetic testing for these conditions is based on personal or family history, ethnic background or other demographic characteristics, that may not always […]

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Tags: #Familial hypercholesterolemia, breast cancer, Dr. Matthew Ferber, lynch syndrome, mayo clinic, Mayo Clinic Center for Individualized Medicine, ovarian cancer, population health genomics, Research


January 28, 2020

Individualized care for psychiatric disorders — Mayo Clinic Biobank + genetic testing could pave the way

By Sharon Rosen Sharon Rosen

Patients suffering from depression, anxiety and substance use disorders often search for years to find treatment. Studies have shown that during this time gap, patients’ symptoms worsen, increasing their risk for other chronic illnesses, shortened lifespan and poor quality of life. Mayo Clinic statistical geneticist Joanna Biernacka, Ph.D. and her colleagues are working to change […]

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Tags: #Mayo Clinic Biobank, anxiety, center for individualized medicine, depression, Genetic Testing, genomics, Joanna Biernacka, mayo clinic, Project Generation, psychiatric disorders, risk score, substance abuse disorder


January 21, 2020

Patient’s premature aging symptoms tied to shorter DNA strands

By Colette Gallagher Colette Gallagher

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 6, 2020

“I Just Didn’t Understand”: On a Mission to Cure ALS

By Barbara J. Toman Barbara J. Toman

For Veronique Belzil, Ph.D., the fight against amyotrophic lateral sclerosis (ALS) is personal. In 2000, while working as a psychologist in Canada, she watched her husband’s uncle succumb to the disease. “The progression was so fast and his condition was so sad,” she says. “I just didn’t understand how this could happen.” That’s a common […]

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Tags: #Mayo Clinic Center for Individualized Medicine Epigenomics Program, ALS, amyotrophic lateral sclerosis, center for individualized medicine, Epigenomics, Lou Gehrig's disease, mayo clinic, neurodegenerative disorders, Veronique Belzil


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