Rare diseases
December 30, 2020
Physicians have new guidelines for managing rare genetic, metabolic disorders
By Susan Murphy 
Physicians now have a blueprint for diagnosing and managing two specific rare inherited metabolic diseases within a group of nearly 150 congenital disorders of glycosylation. These diseases can cause serious and sometimes fatal malfunctions of several organs at or before birth, as well as chronic debilitating symptoms in adults. The consensus guidelines were published in […]
Tags: congenital disorders of glycosylation, metabolic disorders, rare disease
December 24, 2020
2020 Mayo Clinic Precision Medicine Advances
By Susan Murphy
This year, Mayo Clinic’s Center for Individualized Medicine was at the forefront of COVID-19 research, working to unravel the complexities of the virus in order to discover life-saving treatments and prevention — from testing to building a pandemic response biobank to identifying COVID-19 strains within individual patients. But even in the midst of the pandemic, […]
Tags: #Artificial Intelligence, Cancer Research, Genetics, genomics, individualized medicine, multi-omics, Research
December 8, 2020
Mayo study explores benefits of genetic testing for healthy people
More than 1 in 10 people who had predictive genomic testing ― testing that looks for genetic mutations in otherwise healthy people ― learned that they had a hereditary risk for a health condition and may benefit from preventive care, according to a recent study published in Mayo Clinic Proceedings. This study is the first […]
Tags: #predictive genomics, Genetic Testing, Jennifer L. Anderson, mayo clinic, Mayo Clinic Center for Individualized Medicine, Mayo Clinic Proceedings
September 29, 2020
States apart, two brothers’ medical mysteries solved through genetic testing
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. […]
Tags: #Dr. Radhika Dhamija, ALS, body myopathy, frontotemporal dementia, Genetic Testing, mayo clinic, Mayo Clinic Center for Individualized Medicine, rare disease
September 10, 2020
By 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 […]
Tags: Genetic Testing, Genetics, hereditary cancer, hereditary colon cancer, individualized medicine
January 21, 2020
Patient’s premature aging symptoms tied to shorter DNA strands
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 […]
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 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 […]
December 11, 2019
In a first, researchers sequence single bacterial cells, paving path for rapid sepsis test
By 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 […]
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
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 […]
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
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 […]
Tags: Cancer Research, cells, Oxygen, von Hippel-Lindau Clinic