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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...
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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: https://www.rarediseasesnetwork.org
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Learn more about the RDCRN: https://www.rarediseasesnetwork.org
Episodi & Post
Episodi
Post
29 GEN 2025 · 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 Expression Correlates With Symptom Severity in Adults With Eosinophilic Esophagitis."
Read the paper here: https://www.jaci-inpractice.org/article/S2213-2198(24)00529-4/abstract
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
29 GEN 2025 · 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 neurodevelopmental disability."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/aur.3290
Learn more about DSC: https://dsc.rarediseasesnetwork.org
29 GEN 2025 · 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 Charcot–Marie–Tooth Disease Study."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/jns.12662
Learn more about INC: https://inc.rarediseasesnetwork.org
29 GEN 2025 · 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 subjects without myasthenia gravis: optimizing the diagnostic approach."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/ene.16435
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
29 GEN 2025 · 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 differentiation factor 15 as a biomarker for mitochondrial DNA-related disorders."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12821
Learn more about NAMDC: https://namdc.rarediseasesnetwork.org
18 DIC 2024 · 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 children and adults with hereditary hemorrhagic telangiectasia."
Read the paper here: https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03402-8
Learn more about BVMC: https://bvmc.rarediseasesnetwork.org
18 DIC 2024 · 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 and child patient-reported outcomes in eosinophilic esophagitis."
Read the paper here: https://www.jacionline.org/article/S0091-6749(24)00740-1/abstract
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
18 DIC 2024 · 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 uncertain significance identified by prior testing."
Read the paper here: https://www.gimopen.org/article/S2949-7744(24)01032-X/fulltext
Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
18 DIC 2024 · New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Journal of Child Neurology on October 8, 2024, titled "Determination of Health Concepts in β-Propeller Protein–Associated Neurodegeneration."
Read the paper here: https://journals.sagepub.com/doi/10.1177/08830738241283932
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
18 DIC 2024 · New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Bioengineering on September 20, 2024, titled "AI-Powered Telemedicine for Automatic Scoring of Neuromuscular Examinations."
Read the paper here: https://www.mdpi.com/2306-5354/11/9/942
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
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...
mostra di più
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: https://www.rarediseasesnetwork.org
mostra meno
Learn more about the RDCRN: https://www.rarediseasesnetwork.org
Informazioni
| Autore | RDCRN |
| Organizzazione | RDCRN |
| Categorie | Scienze |
| Sito | www.rarediseasesnetwork.org |
| rdcrn.edc@gmail.com |
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