Rare diseases

October 15, 2019

Mayo researcher secures NIH grant to advance care of rare disease

By Colette Gallagher Colette Gallagher

Eva Morava-Kozicz, M.D., Ph.D. received a $5 million grant from the National Institutes of Health to study frontiers in congenital disorders of glycosylation (CDG). These disorders often cause serious, sometimes fatal, malfunction of several different organ systems in affected infants. “This grant will allow us to leverage cross-disciplinary, team-based clinical science to address decades of unresolved […]

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Tags: Eva Morava-Kozicz, Mayo Clinic Center for Individualized Medicine, National Institutes of Health, rare disease


October 4, 2019

Individualized diets help patients with inherited metabolic disorders

By Sharon Rosen Sharon Rosen

Solving a puzzle to find the right diet and nutrition supplements to maintain health – that’s how Suzanne Boyer describes her role as a dietitian In the Inborn Errors of Metabolism Clinic within Mayo Clinic’s Department of Clinical Genomics. She works alongside physicians, geneticists and genetic counselors to develop individualized diet prescriptions for patients with […]

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Tags: #Dr. Brendan Lanpher, #individualized diets, #Mayo Clinic Department of Clinical Genomics, center for individualized medicine, Genetic Testing, genomics, individualized nutrition plans, inherited metabolic disorders, maple syrup urine disease, mayo clinic, Mayo Clinic Inborn Errors of Metabolism Clinic, metabolic disorders


June 17, 2019

Considering a DNA test? Helpful tips before you take the plunge

By Sharon Rosen Sharon Rosen

Article by Shannon Wieloch The availability of genetic testing has exploded. You hear about it on television, the radio and the internet. Family members are verifying age-old stories of their ancestry. Co-workers are talking about the genes that predispose them to weigh 12% less than average. With everyone doing it, a consumer may think, “Well, […]

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Tags: #direct-to-consumer genetic testing, #disease risk, #drug-gene interactions, carrier screening, center for individualized medicine, data privacy, diagnostic tests, Genetic Testing, mayo clinic, Mayo Clinic GeneGuide


May 23, 2019

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

By Sharon Rosen Sharon Rosen

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 […]

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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 Sharon Rosen

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 […]

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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 Colette Gallagher

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. […]

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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 Susan Buckles

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 […]

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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 Colette Gallagher

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 […]

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March 19, 2019

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

By Barbara J. Toman Barbara J. Toman

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 […]

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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 Susan Buckles

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 […]

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


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