Items Tagged ‘#Undiagnosed rare diseases’

Rare, undiagnosed diseases are relatively common

April 16, 2019

Rare, undiagnosed diseases are relatively common

By Susan Buckles Susan Buckles

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


October 17, 2017

Karter’s journey of hope

By Susan Buckles Susan Buckles

Karter Malcomson’s cherubic face, inquisitive eyes and wide smile are magnetic. Behind them is a two- year-old boy with a rare disease that’s generated more medical mysteries in his short life than many face in an entire lifetime.  His circuitous journey to a diagnosis took his case before the Functional Genomics Team– the A team […]

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Tags: #Dr. Pavel Pichurin, #rare diseases, #Undiagnosed rare diseases, Genetic Testing, whole exome sequencing


August 22, 2017

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

By Sharon Rosen 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 […]

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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


June 6, 2017

Collaboration key to improving diagnosis and care for patients with rare diseases

By Sharon Rosen Sharon Rosen

“Desperate for answers,” – that is how William Gahl, M.D., Ph.D., has described many of the patients and families he sees with puzzling disorders. Dr. Gahl is clinical director of the National Institutes of Health (NIH) Undiagnosed Diseases Program. The program aims to provide answers to patients who’ve been suffering for years with mysterious conditions […]

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Tags: #CIMCon17, #Dr. William Gahl, #Individualizing Medicine Clinic, #Individualizing Medicine Conference 2017, #rare diseases, #rare genetic diseases, #Undiagnosed Disease Network, #Undiagnosed Diseases Network International, #Undiagnosed rare diseases, center for individualized medicine, mayo clinic, medical research


December 22, 2016

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

By Sharon Rosen 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 […]

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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


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