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Protocols

RDCRN specifications

Information


Unique identifier OMICS_15770
Name RDCRN
Alternative name Rare Diseases Clinical Research Network
Restrictions to use None
Community driven Yes
Data access Browse
User data submission Allowed
Maintained Yes

Maintainer


  • person_outline Jeffrey Krischer

Publications for Rare Diseases Clinical Research Network

RDCRN citations

 (3)
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The D519G Polymorphism of Glyceronephosphate O Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda

2016
PLoS One
PMCID: 5035022
PMID: 27661980
DOI: 10.1371/journal.pone.0163322
call_split See protocol

[…] Patient samples were contributed by investigators participating in the Porphyria Consortium of the Rare Diseases Clinical Research Network (www.rarediseasesnetwork.org/porphyrias). All enrolled patients had clinical and biochemical evidence of PCT including typical skin lesions and elevated concent […]

library_books

Resources, challenges and way forward in rare mitochondrial diseases research

2015
F1000Res
PMCID: 4490798
PMID: 26180633
DOI: 10.5256/f1000research.6657.r8964

[…] e number of collaborative research efforts towards rare diseases including support to institutes and centers, managing patient registry, human bio-specimen repository, to name a few major activities. Rare Diseases Clinical Research Network (RDCRN) ( http://rarediseases.info.nih.gov/research/pages/41/rare-diseases-clinical-research-network), from ORDR, focuses on advancing medical research on rare […]

library_books

Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice based evidence framework

2012
Genet Med
PMCID: 3837195
PMID: 23222662
DOI: 10.1038/gim.2012.153

[…] hin the Europe-based Network for Genetic Metabolic Diseases Detectable by Newborn Screening (Metabnet), and several collaboratives based in North America (). Of note, the consortia established by the Rare Diseases Clinical Research Network focus on the creation of disease-specific clinical contact registries that primarily act as tools to support the enrollment of patient cohorts in research studi […]

Citations

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RDCRN funding source(s)
Supported by NCATS, in collaboration with the National Institute of Child Health and Human Development (NICHD), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), the National Institute of Neurological Disorders and Stroke (NINDS), the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), the National Institute of Allergy and Infectious Diseases (NIAID), the National Cancer Institute (NCI), the National Heart, Lung and Blood Institute (NHLBI), the National Institute of Dental and Craniofacial Research (NIDCR), the National Institutes of Mental Health (NIMH), and the Office of Dietary Supplements (ODS).

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