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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
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 read more read less
  • NEPTUNE: Providing a Snapshot of Pediatric Patients and Lessons Learned from the NEPTUNE Cohort Study
    23 Feb, 2024 - 01:50
  • PHEFREE: Discussing State-of-the-Art Gene Therapy Approaches for Phenylketonuria
    23 Feb, 2024 - 01:37
  • PIDTC: Investigating Outcomes of Allogeneic Hematopoietic Cell Transplantation in Chronic Granulomatous Disease
    23 Feb, 2024 - 01:43
  • CEGIR: Discussing Breakthrough Discoveries in Eosinophilic Gastrointestinal Disorders
    16 Jan, 2024 - 01:22
  • NEPTUNE: Investigating the Role of the APOL1 p.N264K Variant in G2-Associated Focal Segmental Glomerulosclerosis and Chronic Kidney Disease
    16 Jan, 2024 - 01:58
  • CEGIR: Investigating the Effects of Eosinophilic Esophagitis on Esophageal Tissue
    19 Dec, 2023 - 01:47
  • DC: Using a Data-Driven Approach to Classify Isolated Non-Focal Dystonia
    19 Dec, 2023 - 01:34
  • GDMCC: Characterizing the Histopathology of Primary Ciliary Dyskinesia-Related Chronic Rhinosinusitis
    19 Dec, 2023 - 02:05
  • GLIA-CTN: Investigating the Impact of Newborn Screening on Adrenal Insufficiency in Children with Adrenoleukodystrophy
    19 Dec, 2023 - 01:49
  • DC: Comparing Clinician- and Patient-Rated Measures to Assess the Severity of Cervical Dystonia
    13 Nov, 2023 - 01:50
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