genetic testing

October 31, 2023

Mayo Clinic’s DNA study reveals BRCA1 mutations in 3 sisters, prompts life-changing decisions

By Susan Murphy Susan Murphy (@susanmurphy)

Sisters often share certain genetic traits, such as hair color and facial features. But for three sisters from Minnesota, they discovered a much deeper connection — a shared genetic mutation known to dramatically increase their risk for breast and ovarian cancer. Their BRCA1 variants came to light through a Mayo Clinic Center for Individualized Medicine […]

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Tags: Dr. Konstantinos Lazaridis


August 16, 2023

Mayo Clinic researchers use new innovative technology to diagnose teen brothers with ultra-rare genetic disorder

By Susan Murphy Susan Murphy (@susanmurphy)

When Emery Diffendorfer was a baby, he couldn’t hold his head up or babble like other infants his age. His rare genetic disorder enlarged his tongue and head, and he had weakened muscle tone, brittle bones, sleep apnea, poor eyesight and persistent infections in his tonsils and adenoids.  By six months old, the tiny Mayo […]

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Tags: Biomedical research


June 1, 2023

Mayo’s Individualizing Medicine Conference highlights innovative new era of health care 

By Susan Murphy Susan Murphy (@susanmurphy)

Health care is experiencing a trailblazing phase of innovation, with individualized medicine at the forefront. The driving forces behind the transformation are technological advancements, omics discoveries and the emergence of direct-to-patient clinical trials.   “We’re really moving into an exciting new era where we’re increasingly designing therapeutics specific for individual patients, expanding access and truly impacting […]

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Tags: Biomedical research, center for individualized medicine, Genetics, genomic medicine


April 25, 2023

Mayo Clinic scientist hopes to fuel new era of discoveries with rapid genome sequencing 

By Susan Murphy Susan Murphy (@susanmurphy)

National DNA Day on April 25 marks the discovery of DNA’s double helix in 1953 and the Human Genome Project’s completion in 2003.   The discovery of DNA’s double helix structure 70 years ago propelled a revolutionary shift toward individualized medicine. Today, new genome sequencing technologies could help Mayo Clinic scientists fuel a new whirlwind of […]

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Tags: Biomedical research, center for individualized medicine, Genome Sequencing, personalized medicine


March 16, 2023

9 common questions about genetic testing for cancer

By Susan Murphy Susan Murphy (@susanmurphy)

By Dan Lea Your genes play a role in nearly all areas of your health. A gene is like an instruction manual for your body that tells your body how to function, develop and stay healthy. People have about 20,000 genes in their bodies.   “Many health conditions have a genetic link,” says Breanna Mitchell, a genetic […]

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Tags: center for individualized medicine


February 28, 2023

Mayo Clinic investigators put genomics into action to diagnose patients’ mysterious illnesses

By Susan Murphy Susan Murphy (@susanmurphy)

February 28 is designated Rare Disease Day to raise awareness that, collectively, rare diseases are relatively common. A rare disease is defined as a disease or condition that affects less than 200,000 people. As many as 30 million people in the U.S. have a rare disease, and many people search an average of eight to […]

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Tags: Biomedical research, center for individualized medicine, Dr. Eric Klee, Dr. Konstantinos Lazaridis, Dr. Pinto e Vairo, genomic medicine, medical research


February 2, 2023

A rare genetic cause for a common medical condition

By Susan Murphy Susan Murphy (@susanmurphy)

By Michael Clayton Genetic testing for inherited conditions is performed on a patient’s DNA taken from either blood, saliva or, rarely, skin biopsy. This information from a person’s DNA can provide diagnostic workup of rare inherited conditions. And together with a comprehensive personal and family history, it can help patients understand how a genetic disorder may affect them and their family. Diagnosed with diabetes more […]

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Tags: center for individualized medicine, gene sequencing, genomics, personalized medicine


December 23, 2022

10 significant Mayo Clinic Center for Individualized Medicine Studies of 2022

By Susan Murphy Susan Murphy (@susanmurphy)

In 2022, researchers and physicians at Mayo Clinic’s Center for Individualized Medicine blazed a trail of genomic and multi-omic research and scientific discoveries. The center’s innovative investigations hold a transformative potential to predict, prevent, treat and cure diseases using individualized medicine approaches. Here’s a look back at 10 (of many) of Mayo Clinic’s influential precision medicine research […]

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Tags: center for individualized medicine, gene sequencing, genomic medicine, individualized medicine, medical research


December 22, 2022

Genetic counseling after cancer diagnosis

By Susan Murphy Susan Murphy (@susanmurphy)

By Cynthia Weiss DEAR MAYO CLINIC: I was diagnosed with ovarian cancer two months ago. My oncologist recommended that I undergo genetic testing as part of the treatment plan. Why is this recommended since I already have cancer? What is the benefit of testing? And what information will it provide? ANSWER: Genetic counseling can be an important part […]

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Tags: center for individualized medicine, DNA Testing, gene sequencing, Genetics, genomics, personalized medicine


December 13, 2022

Mayo researchers streamline genetic testing in heart failure clinic, improve clinical care

By Colette Gallagher Colette Gallagher (@colettegallagher)

In a new study published in Genetics in Medicine, Mayo Clinic researchers streamlined genetic testing and counseling for patients with dilated cardiomyopathy, a type of heart muscle disease that causes the heart chambers (ventricles) to thin and stretch, growing larger. “We showed that this practice intervention increased the uptake and yield of genetic testing and […]

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Tags: center for individualized medicine, Genetic Testing, mayo clinic, medical research


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