Rare diseases

December 2, 2019

Precision genomics may offer clues to unexplained low blood cell counts

By Jay Furst Jay Furst (@jayfurst)

Precision genomics has opened the door to identifying the drivers for cancer and other diseases. Its value as a diagnostic tool isn’t limited to the underlying disease biology, however. It also can help diagnose and determine targeted therapies for patients with unexplained illnesses. Mrinal Patnaik, M.B.B.S., a Mayo Clinic hematologist, and colleagues conducted research with […]

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Tags: #Mrinal Patnaik, #undiagnosed diseases, center for individualized medicine, cytopenia, genomics, inherited bone marrow failure syndrome, low blood cell count, mayo clinic, Mayo Clinic Proceedings, stem cell transplant


November 21, 2019

Nobel Laureates’ discovery paves way for research and patient care at Mayo Clinic

By Susan Murphy Susan Murphy (@susanmurphy)

Three pioneering scientists, outside of Mayo Clinic, who won this year’s Nobel Prize in Physiology or Medicine for their discovery of how cells adapt to oxygen availability helped lay the foundation of research and patient care, enabling a unique service at Mayo Clinic — the von Hippel-Lindau Clinic.  “The understanding of how the body senses […]

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Tags: Cancer Research, cells, Oxygen, von Hippel-Lindau Clinic


November 14, 2019

Genetic counselors offer a human experience, guidance for patients

By Sharon Rosen Sharon Rosen (@sharonhrosen)

Who should have genetic testing? Which testing option is best for each individual? These are all questions that genetic counselors can answer. They play a key role in educating patients and physicians about how genetic testing can be used to guide medical care. “Mayo Clinic genetic counselors are those members of the health care team […]

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Tags: #genetic disorders, #hereditary diseases, #Mayo Clinic Department of Clinical Genomics, center for individualized medicine, Genetic Counselor Awareness Day, Genetic Counselors, Genetic Testing, genomics, Jessica Tarnowski, Joan Steyermark, mayo clinic, preemptive genetic testing


October 23, 2019

Finding the needle in the haystack: a tool for rare inherited diseases

By Barbara J. Toman Barbara J. Toman (@barbaratoman)

Individualized medicine has had notable success in identifying DNA mutations that cause cancer. But rare inherited diseases pose an even bigger challenge. Like a needle in a haystack, the cause of a rare inherited disease is often deeply buried, in the DNA that comprises genes or controls their expression. Now however, Mayo Clinic’s Center for […]

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Tags: #Gavin Oliver, biioinformatics, center for individualized medicine, fusion transcript detection, fusion transcription, Genetic Testing, genomics, inherited rare diseases, mayo clinic, RNA sequencing


October 15, 2019

Mayo researcher secures NIH grant to advance care of rare disease

By Colette Gallagher Colette Gallagher (@colettegallagher)

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 (@sharonhrosen)

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 (@sharonhrosen)

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 (@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 […]

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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 (@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 […]

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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 (@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. […]

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


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