Items Tagged ‘Genetic Testing’
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
May 26, 2020
Transplant: Research Makes More Organs Count
By Susan Murphy
By Sara Nick/ Discovery’s Edge Several years ago, a surgeon checked on his patient and was pleased to find her sipping hot coffee in her hospital bed just one day after a lung transplant. If he was looking for a sign that the operation went well, he found it that morning. Delight turned to devastation […]
Tags: #bacterial infections, #kidney transplant, Genetic Testing, Genetics, organ transplant
January 28, 2020
By Sharon Rosen 
Patients suffering from depression, anxiety and substance use disorders often search for years to find treatment. Studies have shown that during this time gap, patients’ symptoms worsen, increasing their risk for other chronic illnesses, shortened lifespan and poor quality of life. Mayo Clinic statistical geneticist Joanna Biernacka, Ph.D. and her colleagues are working to change […]
Tags: #Mayo Clinic Biobank, anxiety, center for individualized medicine, depression, Genetic Testing, genomics, Joanna Biernacka, mayo clinic, Project Generation, psychiatric disorders, risk score, substance abuse disorder
December 23, 2019
Meet Eric Matey, Pharm.D., R.Ph.: moving drug-gene testing into clinical care
By Sharon Rosen
If you’ve picked up a prescription from your local pharmacy, you may have spoken with a pharmacist about how and when to take a medication or its potential side effects. At Mayo Clinic, pharmacists perform these same tasks, but their role extends much further by helping move genomics discoveries into clinical care. “Our pharmacy team […]
Tags: #drug-gene interactions, #RIGHT 10K study, center for individualized medicine, Center for Individualized Medicine Pharmacogenomics Program, Eric Matey, Genetic Testing, genomics, individualized medicine, mayo clinic, pharmacy
November 28, 2019
For one patient, sharing her family medical history led to lifesaving care
By Sharon Rosen
When Stephanie Van Doren first visited Mayo Clinic’s campus in Florida, she was seeking care for digestive issues. But after hearing Van Doren’s family medical history and completing a clinical evaluation, gastroenterologist Timothy Woodward, M.D. recognized that she may also be at risk for a potentially fatal heart condition, aortic dissection. Genetic testing confirmed that […]
Tags: #aortic dissection, #family medical history, #hereditary diseases, #Stephanie Van Doren, center for individualized medicine, Genetic Testing, genomics, Heart Disease, mayo clinic, Timothy Woodward
November 14, 2019
Genetic counselors offer a human experience, guidance for patients
By 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 […]
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
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 […]
Tags: #Gavin Oliver, biioinformatics, center for individualized medicine, fusion transcript detection, fusion transcription, Genetic Testing, genomics, inherited rare diseases, mayo clinic, RNA sequencing
October 21, 2019
What men need to know about breast cancer risk
Male breast cancer is a rare disease, comprising 1% of all breast cancers, but the number of men diagnosed is on the rise. “And there is an increasing appreciation of differences in the tumor biology of female breast cancer versus male breast cancer,” says Siddhartha Yadav, M.D., co-author of a Mayo Clinic study published in […]
Tags: Genetic Testing, genomics, hereditary breast cancer, hereditary cancer, Male breast cancer, Mayo Clinic Center for Individualized Medicine, Sarah Kroc, Siddhartha Yadav
October 4, 2019
Individualized diets help patients with inherited metabolic disorders
By 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 […]
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
August 27, 2019
Meet Margot Cousin, Ph.D.: Genetic detective, researcher, member of the A-team
By Sharon Rosen
When a young boy arrived at Mayo Clinic after repeatedly experiencing infections that caused a fever and a rapid loss of liver function, clinicians turned to genetic testing to find the cause of the illness. Margot Cousin, Ph.D., a translational genomics researcher in the Mayo Clinic Center for Individualized Medicine Translational Omics Program was among […]
Tags: #liver cancer, acute liver failure, American Association for the Study oF Liver Disease, center for individualized medicine, Dr. Eric Klee, Dr. Konstantinos Lazaridis, Dr. Margot Cousin, Genetic Testing, genomics, Genomics Odyssey Board, individualized medicine, Liver disease