Rare diseases
June 1, 2023
Mayo’s Individualizing Medicine Conference highlights innovative new era of health care
By Susan Murphy 
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 […]
Tags: 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
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 […]
Tags: center for individualized medicine, Genome Sequencing, personalized medicine
March 16, 2023
9 common questions about genetic testing for cancer
By Susan Murphy
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 […]
February 28, 2023
Mayo Clinic investigators put genomics into action to diagnose patients’ mysterious illnesses
By Susan Murphy
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 […]
Tags: center for individualized medicine, Dr. Eric Klee, Dr. Konstantinos Lazaridis, Dr. Pinto e Vairo, genomic medicine, medical research
February 27, 2023
Mayo Clinic discovery leads to life-changing treatment for young girl with ultra-rare disease
By Susan Murphy
Months after young Maggie Carmichael started taking an experimental drug for her ultra-rare genetic disease, she was able to trade in her wheelchair for a walker. The 9-year-old Mayo Clinic patient even took a few of her first-ever steps on her own. She also became better at feeding herself, her speech improved and she started coloring in the lines.
Tags: #Dr. Eva Morava-Kozicz, center for individualized medicine, DNA Testing, genomic medicine, personalized medicine
February 2, 2023
A rare genetic cause for a common medical condition
By Susan Murphy
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 […]
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
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 […]
Tags: center for individualized medicine, gene sequencing, genomic medicine, individualized medicine, medical research
December 22, 2022
Genetic counseling after cancer diagnosis
By Susan Murphy
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 […]
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
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 […]
Tags: center for individualized medicine, Genetic Testing, mayo clinic, medical research
December 6, 2022
Mayo Clinic solves genetic mystery of woman’s lifelong ultra-rare disease
By Susan Murphy
For nearly five decades, Patti Schultz’s life was defined by mysterious and debilitating health conditions that caused her to feel isolated and discouraged. Her whirlwind of medical appointments started the day she was born, as a 2-pound preemie. Throughout her childhood, one doctor after the next was baffled by her joint pains, selective mutism, distinctive […]
Tags: #Dr. Lisa Schimmenti, center for individualized medicine, gene sequencing, genomics, medical research