Items Tagged ‘Dr. Eric Klee’

August 27, 2019

Meet Margot Cousin, Ph.D.: Genetic detective, researcher, member of the A-team

By Sharon Rosen sharonhrosen

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 […]

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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


Rare, undiagnosed diseases are relatively common

April 16, 2019

Rare, undiagnosed diseases are relatively common

By Susan Buckles susanbuckles

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 […]

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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

By Susan Buckles susanbuckles

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 […]

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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 sharonhrosen

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 […]

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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

Experts discuss hot topics in precision medicine – home DNA tests, pain management, undiagnosed diseases and more

By Sharon Rosen sharonhrosen

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 […]

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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 sharonhrosen

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 […]

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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

Finding more answers: Mayo researchers are participating in international network to improve diagnosis of rare genetic diseases

By Sharon Rosen sharonhrosen

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 […]

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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 sharonhrosen

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 […]

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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


February 11, 2016

Next-Generation Sequencing: Targeted Panels Versus Whole Exome Sequencing

By Jeff Briggs JeffreyBriggs

  Next-generation sequencing is becoming more prominent in the clinical laboratory, something we reported on recently on the Center for Individualized Medicine blog. With its unprecedented throughput, scalability, and speed, next-generation sequencing enables researchers to study biological systems at a level never before possible. Today’s complex genomic research questions demand a depth of information beyond […]

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Tags: center for individualized medicine, DNA, DNA Sequencing, Dr. Brian Dawson, Dr. Eric Klee, Dr. Matthew Ferber, gene sequencing, mayo medical laboratories, MML, next generation sequencing, whole exome sequencing


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