Rare diseases
April 25, 2022
By Susan Murphy 
National DNA Day on Monday, April 25, marks the discovery of DNA’s double helix in 1953 and the Human Genome Project’s completion in 2003. For the first time, a team of scientists led by the National Institutes of Health has finished sequencing an entire human genome — all of the roughly 3 billion bases of […]
Tags: Dr. Konstantinos Lazaridis, Genetic Sequencing, Genetic Testing, Genetics, genome, Human Genome Project
April 4, 2022
New Mayo Clinic genetic testing service for childhood short stature
Mayo Clinic’s Division of Pediatric Endocrinology and Metabolism and Center for Individualized Medicine have developed a new genetic testing service and model for pediatric idiopathic short stature. That’s when a child’s height is below the corresponding mean height for a given age, sex and population. “We were excited to help families find concrete genetic causes […]
February 28, 2022
Young girl with rare disease gets life-changing diagnosis and targeted therapy at Mayo Clinic
By Susan Murphy
Araeya Sell, 13, has spent much of her childhood visiting her health care team and in the hospital. She has endured countless blood draws, scans, procedures and a surgery ― all in the search for answers to her complex symptoms. After an exhaustive, nearly seven-year diagnostic odyssey, the Sells turned to Mayo Clinic.
Tags: center for individualized medicine, Dr. Konstantinos Lazaridis, Dr. Pinto e Vairo, Genetics, genomics
February 9, 2022
Mayo Clinic develops automated system to accelerate diagnoses for patients with rare diseases
By Susan Murphy
A team of genomics experts within Mayo Clinic’s Center for Individualized Medicine has developed an automated system for tracking new scientific knowledge from around the world of pathogenic genetic variants and applying it to Mayo Clinic patients with rare and undiagnosed diseases.
Tags: center for individualized medicine, Dr. Alejandro Ferrer, Dr. Eric Klee
January 27, 2022
Navigating Life’s Journey with the Right Topographical Map
By Susan Murphy
Combining genetic sequencing, life-style modification, and personalized drug therapy will transform health care. John Halamka, M.D., president, Mayo Clinic Platform, and Paul Cerrato, senior research analyst and communications specialist, Mayo Clinic Platform, wrote this article. While still prevalent, the one-size-fits-all health care is slowly giving way to a more precise, personalized approach that takes into […]
January 13, 2022
Minnesota Partnership awards 5 collaborative research grants for 2022
The Minnesota Partnership for Biotechnology and Medical Genomics have announced their 2022 research awardees. This marks the partnership’s 18th year of spearheading new scientific ideas from Minnesota to improve the health of, and health care for, Minnesotans.
Tags: center for individualized medicine, genomics, mayo clinic, medical research, personalized medicine
December 28, 2021
10 Significant Mayo Clinic Center for Individualized Medicine studies of 2021
By Susan Murphy
It has been an impactful year of genomic and multi-omic research and scientific discoveries in Mayo Clinic’s Center for Individualized Medicine. While much focus in 2021 was centered on advancing the knowledge of COVID-19, Mayo scientists and physician have also worked to develop individualized treatments, prevention measures and diagnostics for patients with rare and undiagnosed diseases, cancer and other illnesses.
Tags: center for individualized medicine, DNA Testing, gene sequencing, Genetics, genomic medicine, genomics
November 22, 2021
Gather your family health history this Thanksgiving; it could save your life
By Susan Murphy
Thanksgiving Day marks Family Health History Day, an annual national public health campaign to encourage people to better understand what health characteristics run in their families. Has your mother, sister or grandmother had breast or ovarian cancer? Has your father had prostate cancer? Is there a history of colon cancer, diabetes or high cholesterol in your family? If so, you also could be at risk. John Presutti, D.O., a Mayo Clinic family medicine physician, says don’t just talk about your family health history. Act on it. It could save your life.
November 17, 2021
By Susan Murphy
In the study, which was published in Clinical and Translational Gastroenterology, nearly 1 in 6 people diagnosed with pancreatic cancer were found to have an inherited cancer-related gene mutation that likely predisposed them to the disease. The most common genetic mutation was in the BRCA2 gene, known as a “breast cancer gene.”
November 9, 2021
Joined at the hip: Genetic testing reveals shared cause of hip pain for 4 family members
By Susan Murphy
Before they went through testing at Mayo Clinic Laboratories, Barbara Domaille, Deborah Neville, Pamela Neville and Rylie Ronnenberg thought there could be a genetic connection to the hip problems they shared. After testing, they knew for sure. By Cory Pedersen As family members, Barbara Domaille, Deborah Neville, Pamela Neville and Rylie Ronnenberg share many things […]