Rare diseases

September 29, 2020

States apart, two brothers’ medical mysteries solved through genetic testing

By Colette Gallagher Colette Gallagher

By Noelle Schon When El Paso, Texas resident Leticia “Letty” Gutierrez met her husband David, she knew he was one in a million. The two have been married for 28 years and built a life together with three kids. Letty, a high school English teacher, says she was especially attracted to David for his wit. […]

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Tags: #Dr. Radhika Dhamija, ALS, body myopathy, frontotemporal dementia, Genetic Testing, mayo clinic, Mayo Clinic Center for Individualized Medicine, rare disease


September 10, 2020

Mayo Clinic researcher finds potential target to control rare genetic disease that strikes in teen years

By Susan Murphy Susan Murphy

Patients with a rare genetic disease called familial adenomatous polyposis, (FAP), often face debilitating challenges. Typically striking in the early teenage years, FAP is characterized by hundreds to thousands of tiny polyps forming in the colon and rectum and leading to a nearly 100% percent likelihood that they will get colon cancer without a life-altering […]

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Tags: Genetic Testing, Genetics, hereditary cancer, hereditary colon cancer, individualized medicine


January 21, 2020

Patient’s premature aging symptoms tied to shorter DNA strands

By Colette Gallagher Colette Gallagher

At only 27-years-old, Morgan Cook recalls the days when she had an abundant amount of energy. “I would lift weights. I would do cardio. I would – you name it, I would do it. I was a lot more active,” says Cook. “I felt like I was able to do more things with friends. I […]

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Tags: #Mrinal Patnaik, center for individualized medicine, Genetics, genomics, hematology, hyperextensible joints, low blood count, mayo clinic, premature aging, short telemores syndrome


January 9, 2020

Mayo Clinic to sequence 100K participants to build genomic database for improved care and research in collaboration with Helix

By Colette Gallagher Colette Gallagher

Mayo Clinic is creating a library of genomic sequencing data on 100,000 consented Mayo Clinic participants to advance research and patient care. “We believe that whole exome sequencing has the potential to reveal predispositions to health problems and enable earlier use of preventive measures throughout a person’s lifespan,” says  Keith Stewart, M.B., Ch.B., Carlson and […]

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December 11, 2019

In a first, researchers sequence single bacterial cells, paving path for rapid sepsis test

By Susan Murphy Susan Murphy

For the first time, Mayo Clinic researchers are sequencing the genomic contents of single bacterial cells. The technique may pave the way for a potential lifesaving test for sepsis, a serious and sometimes deadly condition caused by the body’s response to an infection. Rather than waiting for days to identify the source of a patient’s […]

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Tags: #sepsis, bacteria, bacterial cells, Genome Sequencing, individualized medicine


December 2, 2019

Precision genomics may offer clues to unexplained low blood cell counts

By Jay Furst Jay Furst

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


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

November 21, 2019

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

By Susan Murphy Susan Murphy

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

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

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

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


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