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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
24 OCT 2024 · New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the journal Bone on July 4, 2024, titled "Clinical and molecular correlates of the Index of Severity for Eosinophilic Esophagitis."
Read the paper here: https://www.jacionline.org/article/S0091-6749(24)00465-2/abstract
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
24 OCT 2024 · New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology in August 2024 titled "Estimates of primary ciliary dyskinesia prevalence: a scoping review."
Read the paper here: https://publications.ersnet.org/content/erjor/10/4/00989-2023
Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org
24 OCT 2024 · New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN) and the Lysosomal Disease Network (LDN). This summary is based on a paper published in the journal Molecular Genetics and Metabolism in August 2024 titled "Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy."
Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1096719224004050?via%3Dihub
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
Learn more about LDN: https://ldn.rarediseasesnetwork.org
24 OCT 2024 · New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Developmental Medicine and Child Neurology on September 9, 2024, titled "Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16083
Learn more about INC: https://inc.rarediseasesnetwork.org
24 OCT 2024 · New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Brain on September 3, 2024, titled "Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease."
Read the paper here: https://academic.oup.com/brain/article/147/9/3144/7628356?login=false
Learn more about INC: https://inc.rarediseasesnetwork.org
24 OCT 2024 · New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Kidney International Reports in August 2024 titled "Elevated Exposure to Air Pollutants Accelerates Primary Glomerular Disease Progression."
Read the paper here: https://www.kireports.org/article/S2468-0249(24)01736-4/fulltext
Learn more about NEPTUNE: https://www.neptune-study.org
24 OCT 2024 · New research from the Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium. This summary is based on a paper published in the American Journal of Medical Genetics on September 17, 2024, titled "Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.32110
Learn more about PHEFREE: https://phefree.rarediseasesnetwork.org
24 OCT 2024 · New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Pediatric Neurology in October 2024 titled "Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises."
Read the paper here: https://www.pedneur.com/article/S0887-8994(24)00238-8/abstract
Learn more about UCDC: https://ucdc.rarediseasesnetwork.org
25 SEP 2024 · New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Bone on July 4, 2024, titled "Cross-sectional and longitudinal analysis of bone age maturation during peri-pubertal growth in children with type I, III and IV osteogenesis imperfecta."
Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S8756328224001819?via%3Dihub
Learn more about BBDC: https://bbd.rarediseasesnetwork.org
25 SEP 2024 · 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 May 24, 2023, titled "Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex."
Read the paper here: https://link.springer.com/article/10.1007/s10803-023-06004-8
Learn more about DSC: https://dsc.rarediseasesnetwork.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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