Items Tagged ‘rare disease’
August 31, 2021
By Susan Murphy 
Konstantinos Lazaridis, M.D., known for his significant contributions in genomic research and medicine in a quest to predict and better diagnose disease, as well as devise individualized treatments, has been named the Carlson and Nelson Endowed Executive Director for Mayo Clinic’s Center for Individualized Medicine. The center is widely recognized as one of the most […]
Tags: cancer genomics, Dr. Konstantinos Lazaridis, genomics, individualized medicine, multi-omics, rare disease
April 6, 2021
Mayo researchers reveal gene therapy path for treating children with rare, fatal genetic disease
By Susan Murphy
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 […]
Tags: #gene therapy, rare disease
March 29, 2021
Mayo researchers use AI to reveal causes of complex diseases
By Susan Murphy
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 […]
Tags: #algorithm, #Artificial Intelligence, cancer, colon cancer, colorectal cancer, multi-omics, rare disease
March 7, 2021
By Susan Murphy
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 […]
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
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 […]
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
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 […]
Tags: congenital disorders of glycosylation, metabolic disorders, rare disease
September 29, 2020
States apart, two brothers’ medical mysteries solved through genetic testing
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. […]
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
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 […]
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
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 […]
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
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 […]
Tags: Eva Morava-Kozicz, Mayo Clinic Center for Individualized Medicine, National Institutes of Health, rare disease