Items Tagged ‘rare disease’

September 29, 2020

States apart, two brothers’ medical mysteries solved through genetic testing

By Colette Gallagher Colette Gallagher

By Noelle Schon When El Paso, Texas resident Leticia “Letty” Gutierrez met her husband David, she knew he was one in a million. The two have been married for 28 years and built a life together with three kids. Letty, a high school English teacher, says she was especially attracted to David for his wit. […]

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Tags: #Dr. Radhika Dhamija, ALS, body myopathy, frontotemporal dementia, Genetic Testing, mayo clinic, Mayo Clinic Center for Individualized Medicine, rare disease


April 25, 2020

Why do diseases such as COVID-19 and cancer hit some people harder than others?

By Susan Murphy Susan Murphy

As the nation marks DNA Day on April 25 — commemorating the discovery of DNA’s double helix in 1953 and the completion of the Human Genome Project in 2003 — Mayo Clinic researcher Nicholas Chia, Ph.D., continues to search for answers to the question of why some people are more susceptible to getting a severe […]

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Tags: cancer genomics, DNA, genomics, microbiome, rare disease


February 11, 2020

7 ways Mayo Clinic is leading to cure, connect and transform health care

By Susan Murphy Susan Murphy

  Mayo Clinic Center for Individualized Medicine’s physicians and researchers are leading the way to cure, connect and transform health care by combining their expertise to solve serious or complex medical conditions. Here are seven innovative ways the Center’s investigators are working together to provide patients with answers, treatment options and optimism.   Cultivating cutting-edge […]

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Tags: Biobank, cancer, cancer genomics, Epigenomics, Genomic Sequencing, infections, microbiome, rare disease


October 15, 2019

Mayo researcher secures NIH grant to advance care of rare disease

By Colette Gallagher Colette Gallagher

Eva Morava-Kozicz, M.D., Ph.D. received a $5 million grant from the National Institutes of Health to study frontiers in congenital disorders of glycosylation (CDG). These disorders often cause serious, sometimes fatal, malfunction of several different organ systems in affected infants. “This grant will allow us to leverage cross-disciplinary, team-based clinical science to address decades of unresolved […]

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Tags: Eva Morava-Kozicz, Mayo Clinic Center for Individualized Medicine, National Institutes of Health, rare disease


February 25, 2016

Giving Voice to Those with Rare Diseases

By Jeff Briggs Jeff Briggs

Join us in supporting Rare Disease Day on February 29 The news can hit like a tsunami, bringing devastation and grief when parents realize all the hopes and dreams they have for a child have been replaced by the words, “rare disease.” The news can also bring relief, the end of a diagnostic odyssey that […]

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Tags: Angelman syndrome, center for individualized medicine, Dustin Bennett, genomic medicine, individualized medicine, mayo clinic, personalized medicine, Precision Medicine, rare disease, Rare Disease Day, Stacy Carlson


January 5, 2016

Watching Over Patients With Angelman Syndrome

By Jeff Briggs Jeff Briggs

The diagnostic odyssey of a patient with a rare disease has been described as making a journey through a maze, a journey of wrong turns, dead ends and false starts. Sometimes even a diagnosis provides no clear direction. As in the case of Stephanie Hays, whose son, Bo, was diagnosed by geneticists at Mayo Clinic […]

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Tags: Angelman syndrome, Angelman Syndrome Foundation, CGC, diagnostic odyssey, Dr. Ralitza Gavrilova, Genetic Testing, mayo clinic, rare disease, Sarah Mets


November 16, 2015

Diagnosing Rare Diseases Through Individualized Medicine

By Jeff Briggs Jeff Briggs

Many of the patients referred to Mayo Clinic’s Individualized Medicine Clinic have been on a diagnostic odyssey that can make navigating a maze seem simple. They have experienced a protracted and arduous journey of questions, uncertainties, and fear to find answers about rare medical conditions they suffer from. For some people this frustrating and scary […]

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Tags: center for individualized medicine, diagnostic odyssey, Dr. Andrew Engel, Dustin Bennett, individualized medicine, Individualized Medicine Clinic, Precision Medicine, rare disease, Stacy Carlson, whole genome sequencing


February 28, 2014

Join Together for Better Care on Rare Disease Day Today

By Mystery User

Throughout the world today, patients with rare disease, organizations, and their partners, will join together to promote awareness for rare diseases and the millions of people affected by them. Rare Disease Day was launched by EURORDIS and its Council of National Alliances in 2008. Held on the last day of February each year, it seeks […]

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Tags: Bioinformatics, center for individualized medicine, Clinicial Trials, dna test, DNA Testing, gene sequencing, genome science, genomic medicine, genomics, individualized medicine, microbiome, Parmacogenomics


October 3, 2013

#CIMCon2013 Rundown

By AJ Montpetit AJ Montpetit

  “Individualized Medicine is no longer the stuff of science fiction.” —Richard Weinshilboum, M.D., Pharmacogenomic Program director and conference co-director This quote from pioneering , Richard Weinshilboum, M.D., set the tone for Individualizing Medicine 2013: From Promise to Practice. With more than 750 physicians, researchers, scientists, medical staff, genetic counselors and others gathering in Rochester to exchange ideas, it’s […]

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Tags: Bioethics, breast cancer, c. difficile, cancer, center for individualized medicine, colon cancer, colorectal cancer, DNA, exome, fecal transplant, gene sequencing, genetic


September 30, 2013

Individualized Medicine Clinic Celebrates One Year Anniversary

By AJ Montpetit AJ Montpetit

Today marks the 1 year anniversary of the Mayo Clinic Center for Individualized Medicine opening the proverbial doors to begin seeing patients in the Individualized Medicine Clinic (IM Clinic). The opening of the IM Clinic was a collaborative effort across multiple departments across the three campuses of Mayo Clinic. The two Service Lines, Advanced Cancer Patients […]

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Tags: Advanced Cancer, cancer, center for individualized medicine, DNA, exome, genome, genomics, IM Clinic, individualized medicine, Individualized Medicine Clinic, rare disease, undiagnosed disease


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