Items Tagged ‘Dr. Eric Klee’
July 3, 2023
Mayo Clinic discovery leads to diagnoses of 9 people with rare form of muscular dystrophy
By Susan Murphy 
Nine people around the world who have been living with unexplained, muscular dystrophy-like symptoms may now have an answer for what is causing the progressive muscle weakness in their body’s mid-section, arms and legs. In a new discovery, a collaborative team of scientists led by researchers at Mayo Clinic’s Center for Individualized Medicine has pinpointed […]
Tags: Biomedical research, center for individualized medicine, Dr. Eric Klee, genomics
February 28, 2023
Mayo Clinic investigators put genomics into action to diagnose patients’ mysterious illnesses
By Susan Murphy
February 28 is designated Rare Disease Day to raise awareness that, collectively, rare diseases are relatively common. A rare disease is defined as a disease or condition that affects less than 200,000 people. As many as 30 million people in the U.S. have a rare disease, and many people search an average of eight to […]
Tags: Biomedical research, center for individualized medicine, Dr. Eric Klee, Dr. Konstantinos Lazaridis, Dr. Pinto e Vairo, genomic medicine, medical research
February 9, 2022
Mayo Clinic develops automated system to accelerate diagnoses for patients with rare diseases
By Susan Murphy
A team of genomics experts within Mayo Clinic’s Center for Individualized Medicine has developed an automated system for tracking new scientific knowledge from around the world of pathogenic genetic variants and applying it to Mayo Clinic patients with rare and undiagnosed diseases.
Tags: center for individualized medicine, Dr. Alejandro Ferrer, 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