December 22, 2016
By Sharon Rosen
Approximately 30 million people in the United States suffer from rare diseases that may have a genetic basis, according to the Food and Drug Administration. Mayo Clinic Center for Individualized Medicine investigators are expanding their efforts to help these patients by participating in the Undiagnosed Diseases Network International (UDNI). This international research network is aimed […]
Tags: #Center for Individualized Mediicine, #Diagnostic Odyssey Clinic, #Dr. Kenjiro Kosaki, #Dr. Lisa Schimmenti, #Dr. Stephen Ekker, #Dr. William Gahl, #Undiagnosed Diseases Network International, #Undiagnosed rare diseases, Dr. Dusica Babovic-Vuksanovic, Dr. Eric Klee, mayo clinic, medical research
September 28, 2016
Finding Answers: Understanding How Ambiguous Changes in Genes Impact Health and Disease
By Sharon Rosen
The advancements in DNA-sequencing technology in the modern genomic era have led to an explosion of data being generated for patients wishing to determine if they have a genetic characteristic associated with disease. Often, a patient may find that he or she has a change to their DNA sequence, a variation that predisposes them to […]
Tags: #CIMCon16, #Dr. Jeremy Prokop, #Dr. Karl Clark, #Functional Genomics, #Genetic test results, #Variants of uncertain significance, #VUS, Bioinformatics, center for individualized medicine, Dr. Eric Klee, mayo clinic