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Rare Research Report

RDCRN

Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.Learn more about the RDCRN: www.rarediseasesnet... more

PublishesDailyEpisodes161Founded2 years ago
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Latest Episodes

New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology in Practice in December 2024 titled "Nonepithelial Gene Expres... more

New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal Autism Research on December 6, 2024, titled "Remote monitoring of social attention in neurogenetic syndromes and idiopathic... more

New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the Journal of the Peripheral Nervous System on October 10, 2024, titled "Patient-reported disease burden in the Accelerate Clinical Trials in ... more

New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the European Journal of Neurology on August 8, 2024, titled "Concordance between radioimmunoassay and fixed cell-based assay in subjec... more

New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on November 24, 2024, titled "The clinical utility in hospital-wide use of growth ... more

New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the Orphanet Journal of Rare Diseases on November 9, 2024, titled "Brain and lung arteriovenous malformation rescreening practices for ... more

New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology in November 2024, titled "Long-term durability between parent ... more

New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Genetics in Medicine on August 9, 2024, titled "Clinical RNA sequencing clarifies variants of uncer... more

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