The National Institutes of Health established the Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium in 2021 with the goal of finding molecular diagnoses for individuals with rare diseases who ...
Nov 21, 2025
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There are currently no available treatment options for more than 90% of the approximately 7,000 rare diseases identified to date. However, if these conditions result from correctable cellular or genetic defects, cell and ...
Oct 20, 2025
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Collecting high-quality genomic data is time-consuming, expensive, and often only possible through large-scale national efforts. Thankfully, a new tool developed by the UC Santa Cruz Genomics Institute's Computational Genomics ...
Sep 1, 2025
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Researchers in Taiwan and Belgium developed a lab-based diagnostic workflow that could help doctors predict the severity of a rare childhood brain disorder called FOXG1 syndrome (a rare neurodevelopmental disorder, like Rett ...
Jun 18, 2025
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Despite rapid advances in genome and exome sequencing, many individuals with rare diseases remain undiagnosed. In a Perspective article published in Nature Genetics, researchers at Karolinska Institutet highlight how long-read ...
May 7, 2025
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A new study has uncovered that a gene variant common in Oceanian communities was misclassified as a potential cause of heart disease, highlighting the risk of the current diversity gap in genomics research which can pose ...
Mar 5, 2025
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Within a few days of being born, more than 300,000 Australian babies a year have a spot of their blood analyzed to screen for a range of serious but treatable health conditions.
Jan 16, 2025
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Using a new technique, long-read sequencing, that allows DNA to be analyzed in much greater detail than before, a team of Swedish clinicians and researchers has discovered an unexpected complexity in chromosomal abnormalities. ...
Nov 4, 2024
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There are more than 7,000 rare and undiagnosed diseases globally. Although each condition occurs in a small number of individuals, collectively these diseases exert a staggering human and economic toll because they affect ...
Sep 25, 2024
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Researchers at the Harry Perkins Institute of Medical Research and The University of Western Australia (UWA) have discovered the genetic cause of a rare muscle disease that causes muscle weakness, droopy eyelids and difficulty ...
Aug 7, 2024
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