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
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 August 28, 2025, titled "Assessing racial differences in North American hereditary hemorrhagic telangiectasia study recruitment and care."
Read the paper here.
Learn more about BVMC.
Transcript:
New research from the Brain Vascular Malformation Consortium (BVMC), a research grou...
Read the paper here.
Learn more about BVMC.
Transcript:
New research from the Brain Vascular Malformation Consortium (BVMC), a research grou...
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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 in November 2025 titled "Exploration Into Lived Experiences of Multiple Sulfatase Deficiency–Affected Individuals and Their Families."
Read the paper here.
Learn more about GLIA-CTN.
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New research from the Global Leukodystrophy Initiative Clinical Trials N...
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New research from the Global Leukodystrophy Initiative Clinical Trials N...
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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 Proceedings of the National Academy of Sciences of the United States of America on October 21, 2025, titled "Therapeutic IgG- and IgM-specific proteases disarm the acetylcholine receptor autoantibodies that drive myasthenia gravis pathology."
Read the paper here.
Learn more about MGNet.
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New res...
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New res...
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October 28, 2025 • 1 min
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Human Gene Therapy on September 12, 2025, titled "Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis."
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-...
Read the paper here.
Learn more about GLIA-CTN.
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New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-...
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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 Annals of Neurology on September 6, 2025, titled "A Distinct Immunological Signature in Late-Onset Myasthenia Gravis: Insights from an Exploratory Proteomics Study."
Read the paper here.
Learn more about MGNet.
Transcript:
New research from the Myasthenia Gravis Rare Disease Network (MGNet), a research gro...
Read the paper here.
Learn more about MGNet.
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New research from the Myasthenia Gravis Rare Disease Network (MGNet), a research gro...
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September 28, 2025 • 2 mins
New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Biochemistry and Biophysics Reports on August 2, 2025, titled "Common and distinct circulating microRNAs in four neurovascular disorders."
Read the paper here.
Learn more about BVMC.
Transcript:
New research from the Brain Vascular Malformation Consortium (BVMC), a research group of the Rare Diseases Clinic...
Read the paper here.
Learn more about BVMC.
Transcript:
New research from the Brain Vascular Malformation Consortium (BVMC), a research group of the Rare Diseases Clinic...
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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 Nature Immunology on June 26, 2025, titled "Mutations in the human CSF1R gene impact microglia’s maintenance of brain white matter integrity."
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLI...
Read the paper here.
Learn more about GLIA-CTN.
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New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLI...
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September 28, 2025 • 1 min
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Frontiers in Immunology on June 17, 2025, titled "Subtype-specific atypical B cell profiles in myasthenia gravis reveal distinct immunopathological pathways."
Read the paper here.
Learn more about MGNet.
Transcript:
New research from the Myasthenia Gravis Rare Disease Network (MGNet), a research group of t...
Read the paper here.
Learn more about MGNet.
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New research from the Myasthenia Gravis Rare Disease Network (MGNet), a research group of t...
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September 28, 2025 • 2 mins
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Neurology Neuroimmunology & Neuroinflammation on July 18, 2025, titled "AChR Autoantibody Pathogenic Properties Are Heterogeneously Distributed and Undergo Temporal Changes Among Patients With Myasthenia Gravis."
Read the paper here.
Learn more about MGNet.
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New research from the Myasthenia ...
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New research from the Myasthenia ...
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New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Families, Systems, and Health on July 10, 2025, titled "Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregivers."
Read the paper here.
Learn more about BBDC.
Transcript:
New research from the Brittle Bone Disorders Consortium (BBDC), a research group of the Rare...
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Learn more about BBDC.
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New research from the Brittle Bone Disorders Consortium (BBDC), a research group of the Rare...
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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 Clinical Chemistry on April 25, 2025, titled "Congenital Disorder of Glycosylation in a 40-Year-Old Male with Hypogammaglobulinemia."
Read the paper here.
Learn more about FCDGC.
Transcript:
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC), ...
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Learn more about FCDGC.
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New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC), ...
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New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Brain on June 9, 2025, titled "Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22variants."
Read the paper here.
Learn more about INC.
Transcript:
New research from the Inherited Neuropathy Consortium (INC), a research group of the Rare Diseases Clinical Research Network.
Inv...
Read the paper here.
Learn more about INC.
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New research from the Inherited Neuropathy Consortium (INC), a research group of the Rare Diseases Clinical Research Network.
Inv...
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August 26, 2025 • 1 min
New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the journal Pediatric Neurology on June 16, 2025, titled "Impact of CLN3 Disease on Child Quality of Life and Family Function."
Read the paper here.
Learn more about LDN.
Transcript:
New research from the Lysosomal Disease Network (LDN), a research group of the Rare Diseases Clinical Research Network.
Evaluating Health-Related Qualit...
Read the paper here.
Learn more about LDN.
Transcript:
New research from the Lysosomal Disease Network (LDN), a research group of the Rare Diseases Clinical Research Network.
Evaluating Health-Related Qualit...
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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 June 25, 2025, titled "Validation of the 'Patient-Acceptable Symptom State' Question as Outcome Measure in AChR Myasthenia Gravis: A Multicentre, Prospective Study."
Read the paper here.
Learn more about MGNet.
Transcript:
New research from the Myasthenia Gravis Rare Disease Networ...
Read the paper here.
Learn more about MGNet.
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New research from the Myasthenia Gravis Rare Disease Networ...
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July 23, 2025 • 1 min
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on June 18, 2025, titled "Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing."
Read the paper here.
Learn more about DC.
Transcript:
New research from the Dystonia Coalition (DC), a research group of the Rare Diseases Clinical Research ...
Read the paper here.
Learn more about DC.
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New research from the Dystonia Coalition (DC), a research group of the Rare Diseases Clinical Research ...
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New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal npj Genomic Medicine on May 20, 2025, titled "Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants."
Read the paper here.
Learn more about DSC.
Transcript:
New research from the Developmental Synaptopathies Consortium...
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Learn more about DSC.
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New research from the Developmental Synaptopathies Consortium...
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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 June 16, 2025, titled "Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome."
Read the paper here.
Learn more about DSC.
Transcript:
New research from the Developmental Synaptopathies Consortium (DSC), a research group of the Rare Diseases Clinical Resea...
Read the paper here.
Learn more about DSC.
Transcript:
New research from the Developmental Synaptopathies Consortium (DSC), a research group of the Rare Diseases Clinical Resea...
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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 Cells on April 25, 2025, titled "Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13."
Read the paper here.
Learn more about FCDGC.
Transcript:
New research from the Frontiers in Con...
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Learn more about FCDGC.
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New research from the Frontiers in Con...
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July 23, 2025 • 2 mins
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on June 2, 2025, titled "Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach."
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Netw...
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Netw...
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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 Muscle & Nerve on April 2, 2025, titled "Concordance between radioimmunoassay and fixed cell-based assay in subjects without myasthenia gravis: optimizing the diagnostic approach."
Read the paper here.
Learn more about MGNet.
Transcript:
New research from the Myasthenia Gravis Rare Disease Network (MGNe...
Read the paper here.
Learn more about MGNet.
Transcript:
New research from the Myasthenia Gravis Rare Disease Network (MGNe...
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