Items Tagged ‘#rare diseases’

October 17th, 2017

Karter’s journey of hope

By susanbuckles susanbuckles

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


October 11th, 2017

#CIMCon17 – precision medicine for smoking cessation, rare diseases and cancer screening

By Sharon Rosen sharonhrosen

Ever wonder why some people can quit smoking while others try repeatedly without success?  The answer may be related to your genetic makeup. Studies have shown that 70 percent of smokers want to quit, but only three percent are successful each year. That’s according to Rachel Tyndale, Ph.D., professor of Pharmacology and Psychiatry, Centre for […]

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Tags: #cell-free DNA testing, #Dr. Minetta Liu, #Dr. Muhammed Murtaza, #Dr. Rachel Tyndale, #Dr. Richard Williams, #Dr. William Gahl, #liquid biopsies, #pharmacogenomics testing, #rare diseases, #rare genetic disorders, #smoking cessation, #Undiagnosed Disease Network


October 10th, 2017

#CIMCon 17 is underway

By Sharon Rosen sharonhrosen

“Genomic medicine is already part of mainstream medical care,” says  A. Keith Stewart, M.B., Ch.B., in his opening remarks at the sixth Individualizing Medicine 2017: Advancing Care Through Genomics, a conference hosted by the Mayo Clinic Center for Individualized Medicine. Dr. Stewart, the Carlson and Nelson director of the Center for Individualized Medicine, kicked off the conference yesterday […]

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Tags: #cell-free DNA testing, #CIMCon17, #Dr. David Ledbetter, #Geisinger Health System, #genomic testing, #Individualizing Medicine Conference 2017, #liquid biopsies, #MyCode Community Health Initiative, #rare diseases, cancer, center for individualized medicine, Dr. Keith Stewart


August 23rd, 2017

Gerstner Awardees explore individualized treatments for obesity, rare form of leukemia

By Sharon Rosen sharonhrosen

Precision medicine research has shown that one size does not fit all when it comes to medical care. Early career investigators can bring new ideas and perspectives to the search for treatments tailored to a patient’s unique needs. These are the goals of Andres Acosta, M.D., Ph.D., and Mrinal Patnaik, M.B.B.S. – this year’s recipients […]

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Tags: #chronic myelomonocytic leukemia, #CIMCon17, #Dr. Andres Acosta, #Dr. Mrinal Patnaik, #Gerstner Family Career Development Award, #Individualizing Medicine 2017, #leukemia, #NRAS gene, #obesity, #rare diseases, #weight loss, center for individualized medicine


August 10th, 2017

Genetic tests + coordinated care + research = hope for patients with a genetic neurological disease

By susanbuckles susanbuckles

Life with an inherited disease sometimes brings unexpected twists and turns. Five-year-old Gus Erickson has navigated the gyrations with the help of Mayo Clinic’s Neurofibromatosis Clinic. Neurofibromatosis (NF) is a genetic disorder that causes tumors to form on nerve tissue. Those tumors can develop anywhere in the nervous system, including the brain, spinal cord and […]

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Tags: #Center for Individualized Mediicine, #rare diseases, Dr. Dusica Babovic-Vuksanovic, Genetics, genomics, mayo clinic, neurofibromatosis


June 6th, 2017

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

By Sharon Rosen sharonhrosen

“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


May 25th, 2017

The patient perspective: seeking answers with genetic testing

By Sharon Rosen sharonhrosen

Many patients and their families search for years for answers to undiagnosed medical conditions, hoping for a diagnosis and treatment to help relieve often debilitating symptoms. Some of these patients may be candidates for whole exome sequencing, a genetic test that looks at the estimated 20,000 genes that may give us an answer to the […]

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Tags: #rare diseases, #rare genetic diseases, center for individualized medicine, DNA Sequencing, Genetic Counseling, Genetic Testing, mayo clinic, Teresa Kruisselbrink, whole exome sequencing


March 9th, 2017

Next generation sequencing – a game changer

By Sharon Rosen sharonhrosen

Imagine scanning a page for errors manually one letter at a time, versus using a faster tool like spell check. That’s the difference between the first DNA sequencing methods and the new computerized machines known as next generation sequencing. It’s revolutionizing health care. Next generation sequencing technology enables geneticists to examine all of your 22,000 […]

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Tags: #Dr. Pavel Pichurin, #medical resarch, #neurological diseases, #Precision Mediicne, #rare diseases, #rare genetic diseases, #targeted panel testing, center for individualized medicine, Dr. Matthew Ferber, Genetic Testing, mayo clinic, next generation sequencing


January 12th, 2017

Understanding DNA Sequencing: how it may improve your health now and in the future

By Sharon Rosen sharonhrosen

Many people set improving health as one of their goals for the new year. If that’s you, you may be wondering if the latest advances in genetic testing could guide your health care decisions. Should you have your DNA sequenced? What can genetic testing tell you about your current and future health? It can be […]

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Tags: #DNA sequencing tests, #Dr. Brendan Lanpher, #Genetic diseases, #Genetic tests, #rare diseases, cancer, center for individualized medicine, mayo clinic, medical research


November 16th, 2016

Genetic Counselor Shares Insight into Growing Field at CIM Conference

By Sharon Rosen sharonhrosen

Article by Rachel Guibert, Public Affairs Receiving results from genetic testing can elicit a variety of reactions. Patients often wait anxiously to get the answers they are seeking. Unfortunately, sometimes, medical tests lead to more questions than they answer. Genetic counselors are in a unique position to help patients navigate the often complex and confusing […]

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Tags: #CIMCon16, #GeneticCounseling, #PrecisionMedicine, #rare diseases, #Teressa Kruisselbrink, center for individualized medicine, Genetic Testing, individualized medicine, mayo clinic, whole exome sequencing


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