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Rare Research Report

  • BBDC: Discussing Genetic Testing for Monogenic Disorders of Osteoporosis

    29 MAY. 2024 · New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Current Osteoporosis Reports on April 11, 2024, titled "Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know."  Read the paper here: https://link.springer.com/article/10.1007/s11914-024-00870-6 Learn more about BBDC: https://bbd.rarediseasesnetwork.org
    Escuchado 1m 28s
  • FCDGC: Investigating the Effects of Glycan Extension Deficiency in ALG3-CDG

    29 MAY. 2024 · New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on April 10, 2024, titled "Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG."  Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12739 Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
    Escuchado 1m 44s
  • GLIA-CTN: Exploring Potential Biomarkers for Alexander Disease

    29 MAY. 2024 · New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Neurological Sciences on April 1, 2024, titled "Plasma concentrations of glial fibrillary acidic protein, neurofilament light, and tau in Alexander disease." Read the paper here: https://link.springer.com/article/10.1007/s10072-024-07495-8 Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
    Escuchado 1m 31s
  • LDN: Exploring Management Approaches for High-Sustained Anti-rhGAA IgG Antibody Titers in Patients with Pompe Disease

    29 MAY. 2024 · New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the journal Frontiers in Immunology on March 8, 2024, titled "An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation."  Read the paper here: https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2024.1360369/full Learn more about LDN: https://ldn.rarediseasesnetwork.org
    Escuchado 1m 39s
  • NEPTUNE: Investigating the Association of Fibroblast Growth Factor 23 with Blood Pressure in Primary Proteinuric Glomerulopathies

    29 MAY. 2024 · New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Neurological Sciences on April 1, 2024, titled "Association of Fibroblast Growth Factor 23 with Blood Pressure in Primary Proteinuric Glomerulopathies." Read the paper here: https://karger.com/ajn/article-abstract/55/2/187/886423/Association-of-Fibroblast-Growth-Factor-23-with?redirectedFrom=fulltext Learn more about NEPTUNE: https://www.neptune-study.org
    Escuchado 1m 49s
  • PIDTC: Exploring the Impact of Various Methods for Measuring PHA-Based T Cell Growth in Patients with Severe Combined Immunodeficiency

    29 MAY. 2024 · New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the journal Clinical Immunology on February 15, 2024, titled "Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia."  Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1521661624000536?via%3Dihub Learn more about PIDTC: https://pidtc.rarediseasesnetwork.org
    Escuchado 1m 53s
  • BBDC: Summarizing Current and Developing Pharmacologic Agents for Improving Skeletal Health in Adults with Osteogenesis Imperfecta

    24 ABR. 2024 · New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Calcified Tissue International on March 12, 2024, titled "Current and Developing Pharmacologic Agents for Improving Skeletal Health in Adults with Osteogenesis Imperfecta."  Read the paper here: https://link.springer.com/article/10.1007/s00223-024-01188-2 Learn more about BBDC: https://bbd.rarediseasesnetwork.org
    Escuchado 1m 27s
  • BVMC: Developing a Quantitative Approach to Measure Deep Medullary Vein Volumes in Patients with Sturge-Weber Syndrome

    24 ABR. 2024 · New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Quantitative Imaging in Medicine and Surgery on January 23, 2024, titled "Quantification of enlarged deep medullary vein volumes in Sturge-Weber syndrome."  Read the paper here: https://qims.amegroups.org/article/view/121041/html Learn more about BVMC: https://bvmc.rarediseasesnetwork.org
    Escuchado 2m 18s
  • FCDGC: Exploring Proteomics and N-Glycoproteomics in ALG1-Congenital Disorder of Glycosylation

    24 ABR. 2024 · New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Proteomics on March 12, 2024, titled "Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts."  Read the paper here: https://analyticalsciencejournals.onlinelibrary.wiley.com/doi/10.1002/pmic.202400012 Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
    Escuchado 1m 38s
  • FCDGC: Exploring the Neurological Characteristics of PMM2-Congenital Disorder of Glycosylation Using Human In Vitro Neural Models

    24 ABR. 2024 · New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Cell Reports on March 1, 2024, titled "Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models."  Read the paper here: https://www.cell.com/cell-reports/fulltext/S2211-1247(24)00211-0?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS2211124724002110%3Fshowall%3Dtrue Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
    Escuchado 1m 49s

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...

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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
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