Items Tagged ‘Dr. Eric Klee’
May 25, 2021
Gene fusion discovery in ultrarare tumor highlights potential therapeutic target
By Susan Murphy 
A scientific investigation led by a team of researchers from Mayo Clinic’s Center for Individualized Medicine reveals that an ultrarare cancer called epithelioid trophoblastic tumor (ETT), which can develop in the uterus after conception, recurrently exhibits an abnormal fusion of two genes. This fusion creates an unusual protein that triggers aggressive cell growth — the […]
Tags: #Gavin Oliver, Dr. Eric Klee
November 30, 2020
Mayo study shows gene sequencing, translational research improves diagnosis rates
Many patients with unsolved medical mysteries often undergo genetic testing, but the tests do not always provide a conclusive diagnosis. The term “diagnostic odyssey” describes the series of clinical consultations and testing that patients with undiagnosed disorders often receive in search of a genetic diagnosis. To help these patients, Mayo Clinic researchers embarked on a […]
Tags: diagnostic odyssey, Dr. Eric Klee, Dr. Konstantinos Lazaridis, gene sequencing, mayo clinic, Mayo Clinic Center for Individualized Medicine, translational omics
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
April 16, 2019
Rare, undiagnosed diseases are relatively common
As many as 25 million Americans – about 1 in 13 people – suffer from a rare, undiagnosed condition.* April 29 has been designated Undiagnosed Disease Day to raise awareness that collectively, rare diseases are relatively common. People with a rare disease often spend years visiting different medical providers and clinics seeking answers to unexplained […]
Tags: #Dr. Heidi Rehm, #genomic testing, #rare diseases, #Undiagnosed rare diseases, Bioinformatics, DNA Testing, Dr. Eric Klee, Human Genome Project, Mayo Clinic Center for Individualized Medicine
September 13, 2018
CIM Con day two: Unlocking the mystery of rare diseases
The Human Genome Project —the first mapping of a person’s genetic blueprint — has unlocked mysteries of rare diseases that for ages bewildered medical science. Completed just 15 years ago, the Human Genome Project has ushered in a new era of individualized medicine. That has significantly advanced the ability to diagnose rare diseases, many of […]
Tags: #CIMCon18, #Dr. Heidi Rehm, #genomic testing, #Individualizing Medicine Conference 2018, #rare diseases, Dr. Eric Klee, Mayo Clinic Center for Individualized Medicine
April 10, 2018
Celebrating 15 years of advances in genomics: a time to reflect and look forward
By Sharon Rosen
DNA sequencing and genetic testing have changed medical practice by speeding diagnosis of rare diseases for which patients have visited many different medical providers in search of answers, offering new options in prenatal testing and ushering in a new era of individualized medicine. Genomics moved to the forefront of several areas of medicine after completion […]
Tags: #15 for 15 Celebration, #cell-free DNA testing, #CIMCon18, #DNA sequencing tests, #Dr. Megan Allyse, #Dr. Myra Wick, #expanded carrier screening, #prenatal testing, #rare and undiagnosed diseases, #rare diseases, #rare genetic diseases, #reproductive health
August 22, 2017
By Sharon Rosen
New genomic technologies and discoveries are transforming medical care in ways that we have yet to fully understand. It’s no longer business as usual. Physicians are seeing new approaches to many aspects of daily medical care, such as ordering genetic tests, choosing pain management therapies or prescribing medications. For example, both physicians and patients may […]
Tags: #CIMCon17, #Dr. Amy Lemke, #Dr. David Bick, #Dr. Donald Basel, #Dr. James Liu, #Dr. Robert Green, #Dr. Susanne Haga, #Dr. Wendy van Zelst-Stams, #Dr. William Mauck, #Individualizing Medicine 2017, #pain management, #rare genetic diseases
April 6, 2017
Mayo Clinic investigators share precision medicine research and practice at 10th ISABS Conference
By Sharon Rosen
Mayo Clinic Center for Individualized Medicine physicians and scientists will join Nobel Prize winners and other worldwide leaders in precision medicine in presenting the latest research and application to patient care. Twelve people from the Rochester, Florida and Arizona campuses are featured speakers at the Individualized Medicine Lectures at the 10th International Society for Applied […]
Tags: #Dr. Grzegorz Nowakowski, #Dr. Jan Van Deursen, #Dr. Stanimir Vuk-Pavlovic, #Dr. Tamas Ordog, #Dr. William Faubion, #International Society for Applied Biological Sciences, #ISABS Conference, center for individualized medicine, Dr Nilüfer Ertekin-Taner, Dr. Eric Klee, Dr. George Vasmatzis, Dr. Gianrico Farrugia
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