Items Tagged ‘#rare genetic disorders’

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


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


July 25, 2017

Workshops to offer practical ways to apply genomic medicine to improve care

By Sharon Rosen sharonhrosen

Genetic testing is increasingly used in new ways to improve diagnosis and treatment for many conditions such as advanced cancers, cardiovascular diseases and gastrointestinal disorders. Post conference sessions at this year’s Individualizing Medicine 2017: Advancing Care Through Genomics are offered to help providers and patients learn how they can tap into these promising new technologies. […]

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Tags: #cardiovascular genomics, #CIMCon17, #continuing medical education, #gastronintestinal diseases, #genetic disorders, #Individualizing Medicine 2017, #liver diseases, #Lysomal disease, #medical education, #rare genetic diseases, #rare genetic disorders, Cardiovascular Disease


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