Items Tagged ‘#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


February 27, 2019

Bringing the promise of whole genome DNA sequencing to more patients

By Susan Buckles Susan Buckles

For people with a rare genetic disease, the path to a diagnosis can be a long, costly and painful journey. Often times, answers to unexplained conditions go undetected, because the underlying cause lies deep within a person’s genetic code, inaccessible to standard laboratory testing. Whole genome sequencing may unlock those answers by providing the most […]

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Tags: #Hutton Kearney Ph.D., #rare diseases, Mayo Clinic Department of Laboratory Medicine and Pathology, whole genome sequencing


September 13, 2018

CIM Con day two: Unlocking the mystery of rare diseases

By Susan Buckles Susan Buckles

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 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 […]

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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 Sharon Rosen

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 Sharon Rosen

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 Susan Buckles

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 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


October 11, 2017

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

By Sharon Rosen Sharon Rosen

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 Sharon Rosen

“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


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