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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...
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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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Learn more about the RDCRN: https://www.rarediseasesnetwork.org
Rare Research Report
Rare Research Report
BVMC: Investigating the Formation of New Brain Vascular Malformations in Patients with Hereditary Hemorrhagic Telangiectasia
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
GDMCC: Investigating Clinical Outcomes of Children with Primary Ciliary Dyskinesia and Situs Ambiguus
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
GLIA-CTN: Describing Patients with TBL1XR1-Related Disorder Using a Caregiver Survey
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
GLIA-CTN: Sharing a New Approach to Creating Longitudinal Natural History Studies for Rare Diseases
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
UCDC: Exploring Risk Factors in Asymptomatic Females with Ornithine Transcarbamylase Deficiency
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
Read more about this research from the National Urea Cycle Disorders Foundation: https://nucdf.org/news.html/article/2024/06/28/new-research-shows-female-otc-carriers-heterozygous-females-face-more-symptoms-risks-than-expected
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
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
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
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
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
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...
show more
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
show less
Learn more about the RDCRN: https://www.rarediseasesnetwork.org
Information
| Author | RDCRN |
| Organization | RDCRN |
| Categories | Science |
| Website | www.rarediseasesnetwork.org |
| rdcrn.edc@gmail.com |
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