Rare Research Report

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

BVMC: Comparing Circulating microRNAs in Neurovascular Disorders

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...
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GLIA-CTN: Examining the Molecular Mechanisms of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

September 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 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...
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MGNet: Exploring the Effect of Atypical B Cells on Immune Response in Myasthenia Gravis

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...
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MGNet: Investigating Pathogenic Properties of Acetylcholine Receptor Autoantibodies in Myasthenia Gravis

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. 

Transcript: 

New research from the Myasthenia ...
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BBDC: Exploring Caregiver Experiences, Social Support, and Impact on Family Life in Osteogenesis Imperfecta

August 26, 2025 • 1 min
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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FCDGC: Diagnosing a New Case of Mannosyl-Oligosaccharide Glucosidase-Congenital Disorder of Glycosylation

August 26, 2025 • 1 min
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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INC: Investigating the Correlation Between Disease Severity and Genetic Variants in Charcot-Marie-Tooth Disease Type 1E

August 26, 2025 • 2 mins
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...
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LDN: Evaluating Health-Related Quality of Life and Family Function in CLN3 Disease

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...
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MGNet: Validating the Patient-Acceptable Symptom State (PASS) Question in Acetylcholine Receptor Myasthenia Gravis

August 26, 2025 • 1 min
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...
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DC: Exploring Genetic Diversity and Phenotypes in Dystonia

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 ...
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DSC: Exploring the Relationship Between Genomic Diversity and Neurodevelopmental Versus Cancer Risks in Individuals with PHTS

July 23, 2025 • 2 mins
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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DSC: Using Genome Sequencing to Identify Additional Molecular Diagnoses in Phelan-McDermid Syndrome

July 23, 2025 • 1 min
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...
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FCDGC: Examining Metabolomic Changes in a Patient with PGM1-Congenital Disorder of Glycosylation and Leigh Syndrome

July 23, 2025 • 1 min
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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GLIA-CTN: Characterizing Diagnostic Delays in Metachromatic Leukodystrophy

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...
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MGNet: Developing an Artificial Intelligence-Based Assessment of Telehealth Examinations in Myasthenia Gravis

July 23, 2025 • 1 min
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...
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MGNet: Discussing the Impact of Rescue Therapy in Clinical Trials for Myasthenia Gravis

July 23, 2025 • 1 min
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on April 16, 2025, titled "Handling rescue therapy in myasthenia gravis clinical trials: why it matters and why you should care." 

Read the paper here. 

Learn more about MGNet. 

Transcript: 

New research from the Myasthenia Gravis Rare Disease Network (MGNet), a r...
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NEPTUNE: Exploring the Relationship Between Air Pollution and Primary Glomerular Diseases

July 23, 2025 • 1 min
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the Clinical Kidney Journal on May 13, 2025, titled "Elevated exposure to air pollutants accelerates primary glomerular disease progression."

Read the paper here. 

Learn more about NEPTUNE. 

Transcript: 

New research from the Nephrotic Syndrome Study Network (NEPTUNE), a research group of the Rare Diseases Clinical Research ...
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CEGIR: Exploring the Underlying Causes of Symptom Severity in Eosinophilic Esophagitis

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...
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DSC: Evaluating Remote Monitoring of Social Attention in Neurodevelopmental Genetic Syndromes

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
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INC: Investigating Patient Perspectives on Disease Burden Over Time in Charcot-Marie-Tooth Disease

January 29, 2025 • 1 min
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
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