Items Tagged ‘#rare diseases’

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


January 9, 2018

Twins take action: diagnosed with Tay-Sachs, sisters raise awareness to find treatment and a cure

By Sharon Rosen sharonhrosen

Many people have moments when they are clumsy – accidentally spilling things or stumbling when they walk. In hindsight, these events were early signs that twins Katie and Allie Buryk had late onset Tay-Sachs disease, a rare genetic disorder. But it wasn’t until one day when the two sisters were home from college that their […]

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Tags: #Allie Buryk, #Dr. Marc Patterson, #Katie Buryk, #Mayo Clinic Individualized Medicine Clinic, #National Tay-Sachs & Allied Diseases Association, #rare diseases, #rare genetic disorders, #Tay-Sachs disease, center for individualized medicine, Genetic Testing, mayo clinic, medical research


December 26, 2017

Bridging the gap: Mayo physician-scientist shares expertise in rare genetic diseases at international summit

By Sharon Rosen sharonhrosen

Genomic testing has become an important tool in unlocking the genetic cause of many rare diseases and helping provide a diagnosis for patients and their families who have often spent years searching for answers. But many physicians, especially those in underdeveloped countries, do not have training in medical genetics or the resources to access genomic […]

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Tags: #Health Disparities, #International Summit of Human Genetics and Genomics, #Mayo Clinic Department of Clinical Genomics, #Mayo Clinic Neurofibromatosis Clinic, #National Genome Research Institute, #rare diseases, #rare genetic diseases, #rare genetic disorders, #undiagnosed diseases, center for individualized medicine, Dr. Dusica Babovic-Vuksanovic, Genetic Testing


December 18, 2017

Three strikes, then a home run: Paige’s path to a diagnosis

By Susan Buckles susanbuckles

Paige Whorton’s zeal for life is infectious. “I like parasailing, exploring, and zip lining — daredevil stuff,” she says with a giggle. However, pain in her joints, building for years, was slowing her down. “My bones and joints would hurt when I would run. I couldn’t do anything fun with friends. It was more like, […]

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Tags: #Dr. Brendan Lanpher, #rare diseases, DNA Testing, Genetic Testing, Lysosomal Storage disease, Maroteaux-Lamy syndrome, mayo clinic, Mayo Clinic Center for Individualized Medicine, mucopolysaccharidosis type VI


October 17, 2017

Karter’s journey of hope

By Susan Buckles 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 11, 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 10, 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 23, 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 10, 2017

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

By Susan Buckles 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


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