Rare diseases
October 31, 2023
Mayo Clinic’s DNA study reveals BRCA1 mutations in 3 sisters, prompts life-changing decisions
By Susan Murphy 
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 […]
October 11, 2023
Mayo Clinic study sheds light on rare genetic disorder and blood cancers
In a recent study, Mayo Clinic researchers examined telomere biology disorders, a group of rare genetic disorders characterized by short telomeres. Telomeres are long segments at the end of chromosomes that protect the DNA from unraveling, similar to the small plastic sheath at the end of a shoelace. Telomeres shorten naturally with age but become […]
August 16, 2023
By Susan Murphy
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 […]
Tags: Biomedical research
June 26, 2023
Mayo Clinic uses genomic testing broadly for rare diseases, improves patient care
A Mayo Clinic study published in Journal of Translational Medicine evaluated the use of genomic testing broadly for rare diseases. With the increased use of genomic testing such as multi-gene panels, exome sequencing and genome sequencing in the past decade, there is a greater opportunity to better diagnose and treat patients with rare diseases. According […]
Tags: Biomedical research, center for individualized medicine, Genetic Testing, individualized medicine, mayo clinic
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: 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
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: Biomedical research, 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: Biomedical research, 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, Biomedical research, 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