Rare Research Report
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
Episodes
January 29, 2025 • 1 min
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 abo...
Read the paper here: https://www.jaci-inpractice.org/article/S2213-2198(24)00529-4/abstract
Learn more abo...
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January 29, 2025 • 2 mins
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
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/aur.3290
Learn more about DSC: https://dsc.rarediseasesnetwork.org
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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
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/jns.12662
Learn more about INC: https://inc.rarediseasesnetwork.org
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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.raredi...
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/ene.16435
Learn more about MGNet: https://mgnet.raredi...
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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: htt...
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12821
Learn more about NAMDC: htt...
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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://bv...
Read the paper here: https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03402-8
Learn more about BVMC: https://bv...
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December 18, 2024 • 1 min
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://c...
Read the paper here: https://www.jacionline.org/article/S0091-6749(24)00740-1/abstract
Learn more about CEGIR: https://c...
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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.rarediseasesnetw...
Read the paper here: https://www.gimopen.org/article/S2949-7744(24)01032-X/fulltext
Learn more about FCDGC: https://fcdgc.rarediseasesnetw...
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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
Read the paper here: https://journals.sagepub.com/doi/10.1177/08830738241283932
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
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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
Read the paper here: https://www.mdpi.com/2306-5354/11/9/942
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
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New research from the Porphyrias Consortium (PC). This summary is based on a paper published in the International Journal of Dermatology in November 2024 titled "Observational pilot study of multi-wavelength wearable light dosimetry for erythropoietic protoporphyria."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/ijd.17166
Learn more about PC: https://pc.rarediseasesnetwork.org
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/ijd.17166
Learn more about PC: https://pc.rarediseasesnetwork.org
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New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal Annals of Neurology on September 25, 2024, titled "Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ana.27045
Learn more about DSC: https://dsc.rarediseasesnetwork.org
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ana.27045
Learn more about DSC: https://dsc.rarediseasesnetwork.org
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New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the American Journal of Medical Genetics on September 11, 2024, titled "Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63872
Learn more about DSC: https://dsc.rarediseasesnetwork.org
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63872
Learn more about DSC: https://dsc.rarediseasesnetwork.org
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New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Biological Chemistry on July 24, 2024, titled "O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome."
Read the paper here: https://www.jbc.org/article/S0021-9258(24)02100-8/fulltext
Learn more ...
Read the paper here: https://www.jbc.org/article/S0021-9258(24)02100-8/fulltext
Learn more ...
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New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the American Journal of Medical Genetics on October 4, 2024, titled "Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63880
Learn more about GDMCC: https://gdmcc.r...
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63880
Learn more about GDMCC: https://gdmcc.r...
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New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Annals of Neurology on September 4, 2024, titled "Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ana.27071
Learn more about NAMDC: https://namdc.rarediseasesnetwork.org
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ana.27071
Learn more about NAMDC: https://namdc.rarediseasesnetwork.org
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New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Mitochondrion on October 15, 2024, titled "An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis."
Read the paper here: https://www.sciencedirect.com/science/article/ab...
Read the paper here: https://www.sciencedirect.com/science/article/ab...
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New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the journal Bone on July 4, 2024, titled "Clinical and molecular correlates of the Index of Severity for Eosinophilic Esophagitis."
Read the paper here: https://www.jacionline.org/article/S0091-6749(24)00465-2/abstract
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
Read the paper here: https://www.jacionline.org/article/S0091-6749(24)00465-2/abstract
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
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October 24, 2024 • 1 min
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology in August 2024 titled "Estimates of primary ciliary dyskinesia prevalence: a scoping review."
Read the paper here: https://publications.ersnet.org/content/erjor/10/4/00989-2023
Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org
Read the paper here: https://publications.ersnet.org/content/erjor/10/4/00989-2023
Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org
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New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN) and the Lysosomal Disease Network (LDN). This summary is based on a paper published in the journal Molecular Genetics and Metabolism in August 2024 titled "Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy."
Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1096719224004...
Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1096719224004...
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