At Mayo Clinic, the mission to solve the unsolvable is at the heart of every rare disease case. Each diagnosis is a testament to perseverance, innovation and the relentless pursuit of answers.
Jun 24, 2024
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Australian researchers at Walter and Eliza Hall Institute (WEHI) have found that a genetic change that increases the risk of inflammation, through a process described as "explosive" cell death, is carried by up to 3% of the ...
Oct 3, 2023
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Rare gene mutations can significantly increase the risk of severe COVID-19 disease. An international research team with significant contribution from the University of Bonn compared the genetic material of 5,085 people with ...
Nov 7, 2022
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Brazilian researchers have created an innovative and agile computational tool to link and analyze different health databases with millions of patient records. Called Tucuxi-BLAST, the platform encodes identification records ...
Oct 4, 2022
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A woman's risk of suffering one of the most common types of miscarriages can be predicted based on a specialized analysis of her genome, according to a Rutgers University study.
Jun 13, 2022
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A new ultra-rapid genome sequencing approach developed by Stanford Medicine scientists and their collaborators was used to diagnose rare genetic diseases in an average of eight hours—a feat that's nearly unheard of in standard ...
Jan 12, 2022
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Genomics England, a government owned company, recently announced a pilot program of whole genome sequencing to screen for genetic diseases in 200,000 healthy seeming newborns.
Nov 17, 2021
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When researchers say they have sequenced the human genome, there is a caveat to this statement: a lot of the human genome is sequenced and assembled, but there are regions that are full of repetitive elements, making them ...
Feb 7, 2019
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Scientists at deCODE genetics in Iceland, a subsidiary of Amgen, today publish the first genetic map of the human genome developed using whole-genome sequence data.
Jan 24, 2019
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As genomic sequencing becomes increasingly commonplace in the clinic, questions remain about its use and role among newborns. Can sequencing provide actionable insights? How common is it to find something important to a child's ...
Jan 3, 2019
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