Items Tagged ‘mayo clinic’
January 28, 2021
First hybrid gene therapy shows early promise in treating long QT syndrome
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 […]
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
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 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
November 30, 2020
Mayo study shows gene sequencing, translational research improves diagnosis rates
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 […]
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
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 […]
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 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. […]
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?
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 […]
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
By 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 […]
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
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 […]
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
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 […]
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