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

GLIA-CTN: Exploring the Use of Glial Fibrillary Acidic Protein as a Biomarker in Alexander Disease

February 24, 2026 • 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 Annals of Clinical and Translational Neurology on January 9, 2026, titled "Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease."

Read the paper here. 

Learn more about GLIA-CTN. 

Transcript: 

New research from the Global Leukodystr...
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GLIA-CTN: Reviewing Pathology and Interventions in Cerebral X-Linked Adrenoleukodystrophy

February 24, 2026 • 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 of Child Neurology in February 2026 titled "Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions."

Read the paper here. 

Learn more about GLIA-CTN. 

Transcript: 

New research from the Global Leukodystrophy Initiative Clinical T...
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NAMDC: Using a New Statistical Technique for Accelerometer Data to Assess a Treatment for Mitochondrial Disease

February 24, 2026 • 1 min
New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology in December 2025 titled "Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data." 

Read the paper here. 

Learn more about NAMDC. 

Transcript: 

New research from the North American Mitochondrial Disease Consort...
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SP-CERN: Assessing Health-Related Quality of Life in Children with Rare Forms of Hereditary Spastic Paraplegia

February 24, 2026 • 2 mins
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on November 6, 2025, titled "Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia." 

Read the paper here. 

Learn more about SP-CERN. 

Transcript: 

New research from the Spastic Paraplegia Centers of Exc...
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SP-CERN: Investigating the ATG9A Ratio as a Diagnostic Tool for Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia

February 24, 2026 • 2 mins
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurology on January 5, 2026, titled "Diagnostic Utility of the ATG9A Ratio in AP-4–Associated Hereditary Spastic Paraplegia." 

Read the paper here. 

Learn more about SP-CERN. 

Transcript: 

New research from the Spastic Paraplegia Centers of Excellence ...
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UCDC: Evaluating a New Food Photography App for Measuring Dietary Intake in Urea Cycle Disorders

February 24, 2026 • 1 min
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Molecular Genetics and Metabolism in December 2025 titled "Measuring dietary intake among participants with a urea cycle disorder using standard diet records or a novel food photography app." 

Read the paper here. 

Learn more about UCDC. 

Transcript: 

New research from the Urea Cycle Disorders Consortium (UCDC), a res...
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BBDC: Assessing Temporomandibular Joints in Patients with Osteogenesis Imperfecta

January 28, 2026 • 1 min
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Oral Surgery, Oral Medicine, Oral Pathology, and Oral Radiology on September 16, 2025, titled "Quantitative assessment of the temporomandibular joints in patients with osteogenesis imperfecta: a CBCT study." 

Read the paper here. 

Learn more about BBDC. 

Transcript: 

New research from the Brittle Bone Disorders Cons...
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SP-CERN: Evaluating Plasma Neurofilament Light Chain as a Biomarker for Hereditary Spastic Paraplegia-SPG11 and -ZFYVE26

January 28, 2026 • 1 min
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Movement Disorders on December 9, 2025, titled "Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26)." 

Read the paper here. 

Learn more about SP-CERN. 

Transcript: 

New research from the Spastic Paraplegia...
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SP-CERN: Exploring the Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia

January 28, 2026 • 1 min
New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Movement Disorders on December 2, 2025, titled "Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia: A Study of 428 Cases." 

Read the paper here. 

Learn more about SP-CERN. 

Transcript: 

New research from the Spastic Paraplegia Centers of Excellence Research Network...
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CPIC: Exploring Prevention of Congenital Cytomegalovirus Infection

December 22, 2025 • 1 min
New research from the Congenital and Perinatal Infections Consortium (CPIC). This summary is based on a paper published in the journal Seminars in Fetal and Neonatal Medicine on September 25, 2025, titled "Advancements and potential in the prevention of congenital CMV infection." 

Read the paper here. 

Learn more about CPIC. 

Transcript: 

Congenital cytomegalovirus (CMV) is a herpes viral infection that occurs before birth. CMV is a co...
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CEGIR: Exploring the Use of Artificial Intelligence Tools in the Detection and Management of Eosinophilic Gastrointestinal Disorders

December 22, 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 on September 4, 2025, titled "Artificial intelligence in the detection and management of eosinophilic gastrointestinal diseases: Applications, challenges, and future outlook." 

Read the paper here. 

Learn more about CEGIR: https://cegir.rarediseases...
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DSC: Characterizing Key Factors that Correlate with Sleep Problems in Rare Neurodevelopmental Genetic Disorders

December 22, 2025 • 1 min
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the Journal of Autism and Developmental Disorders on October 25, 2025, titled "Characterizing Key Correlates of Sleep Problems Across Rare Neurodevelopmental Genetic Disorders." 

Read the paper here. 

Learn more about DSC. 

Transcript: 

Neurodevelopmental genetic disorders (NGDs) are a spectrum of conditions that affect ho...
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DSC: Developing a Fully Automated Algorithm for Tuber Segmentation and Quantification of Tuber Volume in Tuberous Sclerosis Complex

December 22, 2025 • 1 min
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal Epilepsia on November 19, 2025, titled "Convolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complex." 

Read the paper here. 

Learn more about DSC. 

Transcript: 

Tuberous sclerosis complex (TSC) is a genetic disorder that leads to the growth of ...
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MGNet: Building a Quantitative Telemedicine Platform for Myasthenia Gravis

December 22, 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 November 20, 2025, titled "Building a Quantitative Telemedicine Platform for Myasthenia Gravis: Augmenting the Physical Examination." 

Read the paper here. 

Learn more about MGNet. 

Transcript: 

Myasthenia gravis (MG) is a neuromuscular disorder caused by an autoimmune response which bloc...
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BVMC: Assessing Disparities in Access to Clinical Care and Research for Patients with Hereditary Hemorrhagic Telangiectasia

November 25, 2025 • 1 min
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...
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GLIA-CTN: Working with Caregivers to Capture Lived Experiences of Children with Multiple Sulfatase Deficiency

November 25, 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 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. 

Transcript: 

New research from the Global Leukodystrophy Initiative Clinical Trials N...
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MGNet: Evaluating the Therapeutic Potential of Immunoglobin G- and Immunoglobin M-Specific Proteases in AChR-Positive Myasthenia Gravis

November 25, 2025 • 2 mins
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. 

Transcript: 

New res...
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GLIA-CTN: Discovering a New Pathogenic Variant in Canavan Disease

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-...
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MGNet: Comparing Differences in Proteins Among Patients with Early-Onset and Late-Onset Myasthenia Gravis

October 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 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...
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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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