A newly developed AI tool can dramatically speed up the search for the genetic causes of rare diseases, a process that often takes years and frequently ends without answers. The tool analyzes how genes have evolved across ...
Mar 30, 2026
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A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at Karolinska University Hospital. ...
Mar 30, 2026
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Rare diseases are complex medical disorders that are notoriously difficult to diagnose because many present with a wide variety of symptoms that can overlap with more common illnesses. Currently, around 300 million people ...
The Food and Drug Administration plans to drop its longtime standard of requiring two rigorous studies to win approval for new drugs, the latest change from Trump administration officials vowing to speed up the availability ...
Feb 19, 2026
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Research on rare diagnoses and the development of precision medicine depend on patients being able to share their health data in a secure and ethical manner. The research study, published in Scientific Reports, in which a ...
Jan 31, 2026
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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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