We are the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), which is part of the National Institutes of Health’s (NIH’s) National Center for Advancing Translational Sciences (NCATS). Our mission is to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing. Through the RDCRN, researchers and their teams work together with patient organizations to study nearly 200 rare diseases at clinical centers across the nation and worldwide. The NIH has awarded approximately $31 million in grants in fiscal year 2019 to 20 teams – including five new groups – of scientists, clinicians, patients, families and patient advocates to study a wide range of rare diseases through the RDCRN. An additional $7 million has been awarded to a separate data coordinating center to support these research efforts. The consortia will be researching: -Porphyria -Mitochondrial disorders -Vasculitis -Urea cycle disorders -Inherited neuropathies -Nephrotic syndrome -Brittle bone disorders -Dystonia -Developmental synaptopathies -Brain vascular malformations -ALS and related disorders -Disorders of glycosyllation -Congenital infections -Myasthenia gravis -Phenylketonurea -Lysosomal storage disorders -Leukodystrophies -Eosinophilic gastrointestinal disorders -Primary immune deficiency disorders -Genetic mucociliary disorders RDCRN focuses on clinical research and does not generally support clinical care outside of research activities. Please visit our website to search for information on the diseases we study. Beyond our network, the NIH offers many additional resources to support patients. You can reach the Genetic and Rare Diseases (GARD) Information Center at 1-888-205-2311. You can also search for diseases and access other resources at their website: https://ncats.nih.gov/gard.
External link for Rare Diseases Clinical Research Network (RDCRN)
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Rare Diseases Clinical Research Network (RDCRN) reposted this
The Rare Diseases Clinical Research Network (RDCRN), led by NCATS, is a flagship network of The National Institutes of Health. The #RDCRN is a driver of innovation in #RareDiseases research. The network has 20 consortia, with scientists and clinicians at hundreds of global sites studying more than 280 rare diseases! Learn about the network: https://go.nih.gov/ai5Z1hV
Using a #Proteomics-Based Approach for Ultra-Rapid Diagnosis of #PyruvateDehydrogenaseComplexDeficiency New research from the North American #MitochondrialDisease Consortium (NAMDC): https://lnkd.in/g-xZzV2z Pyruvate dehydrogenase complex (PDH) deficiency is a mitochondrial disease that limits the breakdown of carbohydrates for energy production, leading to high levels of lactic acid, which can be life-threatening. Diagnosing mitochondrial diseases like PDH is often complex, with limited options for additional tests after a negative rapid whole-genome sequencing result. In this study, researchers used a proteomics-based approach for ultra-rapid diagnosis of PDH deficiency. The study included a neonatal patient presenting with severe lactic acidosis on the second day of life and a negative initial ultra-rapid genome sequencing report. With multi-omics techniques, the team identified PDHX from absence of peptides in the cells, leading to the discovery of a pathogenic variant in the PDHX gene. Subsequent testing in the following months confirmed a diagnosis of PDH deficiency, and the patient was successfully treated for lactic acidosis with dichloroacetate. Results highlight the power of rapid proteomics in guiding genomic analysis. Authors also note that these results identify dichloroacetate as a promising potential therapy for lactic acidosis in PDH deficiency.
Have you read our October 2024 Spotlight on #RareDiseases newsletter? Check it out here! ➡️ https://lnkd.in/e5_TUjXR
Every day, more and more patients with #MyastheniaGravis are participating in #telemedicine visits. How can we improve the reliability of remote #neuromuscular examinations? Researchers from the Myasthenia Gravis Rare Disease Network (MGNet) developed a new #ArtificialIntelligence-powered tool: https://lnkd.in/duj8vua8
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR): ✅ Exploring Clinical and Molecular Features Associated with the Index of Severity for #EosinophilicEsophagitis Listen and read more: https://lnkd.in/gEFkmAJT
Catch up on the latest Rare Diseases Clinical Research Network (RDCRN) research! Featuring new discoveries in: ✅ #EosinophilicEsophagitis ✅ #PrimaryCiliaryDyskinesia ✅ #Leukodystrophy ✅ #RiboflavinTransporterDeficiency ✅ #CharcotMarieTooth ✅ #PrimaryGlomerularDiseases ✅ #Phenylketonuria ✅ #UreaCycleDisorders https://lnkd.in/gR5p_DYM
Congratulations to Megan Pesch, MD, MS, of C.S. Mott Children's Hospital on receiving the 2024 Congenital and Perinatal Infections Consortium (CPIC) Pilot Project award! 🎉https://lnkd.in/gyXt4sd2
October 23 is PTEN Hamartoma Tumor Syndrome Awareness Day! 🎉 ➡️ Learn more about PTEN: https://lnkd.in/g-ikDg2Q ➡️ Check out our PTEN research: https://lnkd.in/gJmwfmei ➡️ Get involved with our patient advocacy partner PTEN Hamartoma Tumor Syndrome Foundation: https://ptenfoundation.org #PTENAwarenessDay2024
🎙 New podcast episode! ➡️ Expanding the Phenotype of #PeroxisomeBiogenesisDisorders by Uncovering a New Genetic Variant Listen and subscribe: https://lnkd.in/gxXP83aN
Evaluating the O-GlcNAc Transferase Interactome to Identify Potential Mechanistic Targets for OGT-#CongenitalDisorderOfGlycosylation New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC): https://lnkd.in/gy7z4ekJ O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG) is an inherited disorder caused by dysfunction of the OGT enzyme that affects a complex process in the body called glycosylation. Pathogenic variants associated with OGT-CDG are thought to disrupt the OGT interactome, which consists of interactions between thousands of proteins. In this review paper, researchers evaluated the OGT interactome to identify potential mechanistic targets for OGT-CDG studies. The team also discussed clinical features of OGT-CDG and the biochemical effects of mutations. Authors note that as more OGT variants are characterized and additional patients are identified, it may become possible to identify a set of common alterations in OGT function as well as a core set of clinical features of OGT-CDG, which could help improve diagnosis.