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
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...
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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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...
Read the paper here.
Learn more about CEGIR: https://cegir.rarediseases...
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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...
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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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 ...
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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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...
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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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.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials N...
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
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.
Transcript:
New res...
Read the paper here.
Learn more about MGNet.
Transcript:
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.
Transcript:
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.
Transcript:
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.
Transcript:
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.
Transcript:
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.
Transcript:
New research from the Myasthenia ...
Read the paper here.
Learn more about MGNet.
Transcript:
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...
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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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), ...
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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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.
Transcript:
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.
Transcript:
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.
Transcript:
New research from the Dystonia Coalition (DC), a research group of the Rare Diseases Clinical Research ...
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