26 JUN 2024 · New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Pediatric Neurology on March 22, 2024, titled "De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia."  Read the paper here: https://www.pedneur.com/article/S0887-8994(24)00088-2/abstract Learn more about BVMC: https://bvmc.rarediseasesnetwork.org

26 JUN 2024 · New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the CHEST Journal on December 9, 2023, titled "Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia." Read the paper here: https://journal.chestnet.org/article/S0012-3692(23)05841-5/abstract Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org

26 JUN 2024 · New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Orphanet Journal of Rare Diseases on February 20, 2024, titled "The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects." Read the paper here: https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03083-3 Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org

26 JUN 2024 · New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Molecular Genetics and Metabolism on March 18, 2024, titled "Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach." Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1096719224002683?via%3Dihub Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org

26 JUN 2024 · New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Molecular Genetics and Genomic Medicine on April 17, 2024, titled "Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database."  Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2443 Learn more about UCDC: https://ucdc.rarediseasesnetwork.org

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

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

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

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

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