Items Tagged ‘rare disease’

April 6, 2021

Mayo researchers reveal gene therapy path for treating children with rare, fatal genetic disease

By Susan Murphy Susan Murphy (@susanmurphy)

A gene therapy strategy developed by Mayo Clinic researchers could offer a potential treatment for a rare and fatal genetic disease that often sickens babies in their first days of life. The disease, propionic acidemia, occurs in 1 in 100,000 live births in the U.S. There is no cure. “As soon as the babies start […]

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Tags: #gene therapy, rare disease


March 29, 2021

Mayo researchers use AI to reveal causes of complex diseases

By Susan Murphy Susan Murphy (@susanmurphy)

Researchers within Mayo Clinic’s Center for Individualized Medicine have developed an artificial intelligence (AI) platform that can uncover causal drivers and relationships embedded within complex biomedical data. Nicholas Chia, Ph.D., John Kalantari, Ph.D., and Kia Khezeli, Ph.D., recently tested their machine-learning framework, called Causal Relation and Inference Search Platform (CRISP) on multiomic colorectal cancer samples […]

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Tags: #algorithm, #Artificial Intelligence, cancer, colon cancer, colorectal cancer, multi-omics, rare disease


March 7, 2021

On International Women’s Day, meet 8 trailblazing women in Mayo Clinic’s Center for Individualized Medicine

By Susan Murphy Susan Murphy (@susanmurphy)

In honor of International Women’s Day on March 8, Mayo Clinic’s Center for Individualized Medicine is celebrating the inspirational women who are taking on incredible challenges and leading the way to cure, connect and transform health care. International Women’s Day is dedicated to the social, economic, political, cultural and scientific achievements of women. This year’s […]

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Tags: #women's health, ALS, cancer, Genetic Testing, genomics, neurodegenerative disorders, rare disease, womens cancer


February 26, 2021

Mayo Clinic investigators pursue every clue to solve patients’ rare diseases

By Susan Murphy Susan Murphy (@susanmurphy)

When patients’ illnesses are a mystery and their symptoms have defied a diagnosis, they often turn to Mayo Clinic. There a team of genomic-oriented clinicians and researchers within the Center for Individualized Medicine pursue every possible clue to solve these complex cases.  As many as 30 million Americans have a rare disease. Many patients search […]

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Tags: DNA, Genetic Counseling, Genetic Sequencing, Genetic Testing, multi-omics, rare disease, Rare Disease Day


December 30, 2020

Physicians have new guidelines for managing rare genetic, metabolic disorders

By Susan Murphy Susan Murphy (@susanmurphy)

Physicians now have a blueprint for diagnosing and managing two specific rare inherited metabolic diseases within a group of nearly 150 congenital disorders of glycosylation. These diseases can cause serious and sometimes fatal malfunctions of several organs at or before birth, as well as chronic debilitating symptoms in adults.  The consensus guidelines were published in […]

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Tags: congenital disorders of glycosylation, metabolic disorders, rare disease


September 29, 2020

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

By Colette Gallagher Colette Gallagher (@colettegallagher)

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 (@susanmurphy)

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 (@susanmurphy)

  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 (@colettegallagher)

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 (@JeffreyBriggs)

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


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