Rare diseases

May 23, 2019

After nearly three decades of testing, genome-sequencing brings answers for Arizona family

By Sharon Rosen sharonhrosen

Article by Lynn Closway At age 27, Kyle Christy has defied the odds. He was born with seemingly insurmountable medical challenges that caused his parents, Debra and Todd, to fear what their beloved first-born son’s life would be like. When their second son was born, just 19 months later, Debra and Todd immediately noticed the […]

View full entry

Tags: #Dr. Radhika Dhamija, Genetic Testing, genomics, mayo clinic, Mayo Clinic Center for Individualized Medicine, whole exome sequencing


May 7, 2019

Targeting bile duct cancer – meet Mitesh Borad, M.D.

By Sharon Rosen sharonhrosen

The search for treatment targets for patients with bile duct cancer, also known as cholangiocarcinoma, has taken a 360 degree turn, offering new hope for patients. That’s according to Mitesh Borad, M.D., deputy director for Center for Individualized Medicine Biomarker Discovery Program at Mayo Clinic’s Arizona campus, Dr. Borad and his colleagues are using new […]

View full entry

Tags: #Dr. Mitesh Borad, #liver cancer, #targeted therapies, bile duct cancer, Biomarker Discovery Program, cholangiocarcinoma, fibroblast growth factor receptor (FGFR) inhibitors, Genetic Testing, genomics, Liquid biopsy, mayo clinic, Mayo Clinic Center for Individualized Medicine


April 23, 2019

Editorial: Why DNA sequencing is an effective tool for patient care

By Colette Gallagher colettegallagher

By Keith Stewart, M.B., CH.B. For the past 30 years, I’ve been fortunate enough to work with and help many patients. But over that time, I’ve also met people who did not respond to therapy or had significant side effects, while others had marvelous responses. Cases like these show a clear need for personalized medicine. […]

View full entry

Tags: #rare and undiagnosed diseases, DNA Sequencing, Dr. Keith Stewart, Mayo Clinic Center for Individualized Medicine, pharmacogenomics, undiagnosed disease


Rare, undiagnosed diseases are relatively common

April 16, 2019

Rare, undiagnosed diseases are relatively common

By Susan Buckles susanbuckles

As many as 25 million Americans – about 1 in 13 people – suffer from a rare, undiagnosed condition.* April 29 has been designated Undiagnosed Disease Day to raise awareness that collectively, rare diseases are relatively common. People with a rare disease often spend years visiting different medical providers and clinics seeking answers to unexplained […]

View full entry

Tags: #Dr. Heidi Rehm, #genomic testing, #rare diseases, #Undiagnosed rare diseases, Bioinformatics, DNA Testing, Dr. Eric Klee, Human Genome Project, Mayo Clinic Center for Individualized Medicine


April 8, 2019

Genetic test solves mystery of family bleeding disorder

By Colette Gallagher colettegallagher

The Riggs family had a bleeding disorder that spanned three generations and affected the health of multiple family members. They never knew the cause of it, the long term risks associated with it, or the impact it may have on future generations — until a genetic test revealed the answer. Finding the clues to the […]

View full entry


March 19, 2019

Not the end of the road: Delivering the diagnosis of sex-chromosome trisomy

By Barbara J. Toman barbaratoman

Even if you’ve never heard the word “trisomy,” you probably know someone with the condition. March is Trisomy Awareness Month, a time to raise awareness about trisomy conditions and the challenges they can pose to individuals and families. Trisomy means having three copies of a chromosome instead of two. Down syndrome, or trisomy 21, is […]

View full entry

Tags: #Down syndrome, #Dr. Megan Allyse, #Klinefelter syndrome, #sex-chromosomes, #trisomy, Mayo Clinic Center for Individualized Medicine


February 27, 2019

Bringing the promise of whole genome DNA sequencing to more patients

By Susan Buckles susanbuckles

For people with a rare genetic disease, the path to a diagnosis can be a long, costly and painful journey. Often times, answers to unexplained conditions go undetected, because the underlying cause lies deep within a person’s genetic code, inaccessible to standard laboratory testing. Whole genome sequencing may unlock those answers by providing the most […]

View full entry

Tags: #Hutton Kearney Ph.D., #rare diseases, Mayo Clinic Department of Laboratory Medicine and Pathology, whole genome sequencing


January 21, 2019

Test offers hope for people with severe kidney disease

By Barbara J. Toman barbaratoman

Optimal treatment requires knowing what caused a medical condition. If your arm is broken because you fell, a simple cast might be enough. But if a tumor in your bone made it brittle, you need very different treatment. For people with a rare kidney condition—known as focal segmental glomerulosclerosis (FSGS)—identifying the cause is critical. Patients […]

View full entry

Tags: #Dr. Fernando Fervenza, #Dr. Ladan Zand, #focal segmental glomerulosclerosis, #kidney disease, #kidney transplant, DNA Testing, Mayo Clinic Center for Individualized Medicine, Precision Medicine


November 19, 2018

Gene therapy: potential and pitfalls

By Susan Buckles susanbuckles

Research is advancing gene therapy as a possible treatment or eventual cure for genetic diseases that bedevil modern science. Gene therapy was conceived over 20 years ago, and until recently, remained largely in the research lab. But gene therapy products are now beginning to be approved by the U.S. Food and Drug Administration for clinical […]

View full entry

Tags: #Brittle bone disease, #CAR T-cell therapy, #Dr. David Deyle, #gene therapy, Dr. Saad Kenderian, Mayo Clinic Center for Individualized Medicine, medical research


September 17, 2018

CIMCON18 — how genomics discovery is transforming individualized care and the path forward

By Sharon Rosen sharonhrosen

Mining information deeper than genomics, understanding factors linked to disease, analyzing big data, and addressing the challenges of bringing all this information together to advance patient care – these were some of the themes featured at the Individualizing Medicine Conference: Advancing Care through Genomics held in Rochester, Minnesota, Sept. 12-13, and sponsored by the Mayo […]

View full entry

Tags: #All of Us Research Program biobank, #CAR T-cell therapy, #CIMCon18, #Dr. Eric Green, #Dr. Gabriel Krestin, #Dr. Manolis Kellis, #Dr. Michael Berger, #Dr. Nancy Cox, #Dr. Yi Lin, #Genomic data, All of Us Research Program, center for individualized medicine


Contact Us · Privacy Policy