Items Tagged ‘#undiagnosed diseases’
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
December 26, 2017
By Sharon Rosen
Genomic testing has become an important tool in unlocking the genetic cause of many rare diseases and helping provide a diagnosis for patients and their families who have often spent years searching for answers. But many physicians, especially those in underdeveloped countries, do not have training in medical genetics or the resources to access genomic […]
Tags: #Health Disparities, #International Summit of Human Genetics and Genomics, #Mayo Clinic Department of Clinical Genomics, #Mayo Clinic Neurofibromatosis Clinic, #National Genome Research Institute, #rare diseases, #rare genetic diseases, #rare genetic disorders, #undiagnosed diseases, center for individualized medicine, Dr. Dusica Babovic-Vuksanovic, Genetic Testing