Rare Diseases Clinical Research Network (RDCRN)

🎙 New podcast episode! ➡️ Comparing Parent and Child #PatientReportedOutcomes in #EosinophilicEsophagitis Over Time Listen and subscribe: https://lnkd.in/gF2MgWcu

Interested in #dystonia data? A selection of de-identified information from over 3,000 dystonia patients is now available from the Dystonia Coalition (DC)! You can explore the Dystonia Coalition dataset here: https://lnkd.in/gEMx8Aa5

Exploring the Underlying Causes of Symptom Severity in #EosinophilicEsophagitis New research from the Consortium of #Eosinophilic #GastrointestinalDisease Researchers (CEGIR): https://lnkd.in/g5t36zUQ Eosinophilic esophagitis (EoE) is a disorder in which eosinophils (white blood cells of the immune system) build up in the esophagus, causing tissue damage. Symptoms can include difficulty swallowing, food getting stuck in the throat, vomiting, reflux, malnourishment, and poor appetite. Not much is known about the underlying causes of variation in EoE symptoms. In this study, researchers explored the underlying causes of symptom severity in EoE. First, the team compared a validated patient-reported outcome metric with a set of transcripts expressed in the esophagus of 146 patients with EoE. Next, the team used single-cell RNA sequencing data to identify the cellular source of EoE genes and further analyzed patients with mild and severe symptoms. Results reveal that EoE symptoms are correlated with nonepithelial esophageal gene expression. Authors note that these findings provide evidence that nonepithelial cells likely contribute to symptom severity.

The Black Pearl Photo Award is back! 💥 #EURORDISAwards2025 Our annual contest showcases the beauty, resilience, and unique stories within the rare disease community through the transformative power of photography. Open to photographers, advocates, and creatives worldwide, this competition invites participants to capture moments that reflect the strength and spirit of people impacted by rare diseases. Submissions will be evaluated by Marcus Bleasdale, a renowned photographer whose work has been featured in National Geographic, before being put to the public vote to crown our champion! Last year’s winning entry, “Together Strong” from Austria, beautifully captured the essence of shared strength and joy at the heart of this contest. We look forward to seeing this year’s powerful and inspiring moments - let your lens tell the story words cannot! 📣 How to Participate: Submit your photos now and share your unique perspective of life within the rare disease community. Shortlisted photographs will be contacted for follow-up. Submit your entry now! 👉 https://lnkd.in/eiDJhhjX #RareDiseases #Europe #award #Photography #competition

New research from the Consortium of #Eosinophilic #GastrointestinalDisease Researchers (CEGIR): ✅ Comparing Parent and Child #PatientReportedOutcomes in #EosinophilicEsophagitis Over Time Listen and read more: https://lnkd.in/gYcx993z

🎙 New podcast episode! ➡️ Determining Current Rescreening Practices for #Brain and #Lung #ArteriovenousMalformations in #HereditaryHemorrhagicTelangiectasia Listen and subscribe: https://lnkd.in/eyRwTmzc

Exploring the Clinical Utility of Growth Differentiation Factor 15 (#GDF15) as a #Biomarker for Primary #MitochondrialDisorders New research from the North American #MitochondrialDisease Consortium (NAMDC): https://lnkd.in/gFXx8KfR Primary mitochondrial disorders (PMD) are chronic, multisystemic disorders involving dysfunction of the mitochondria caused by mutations in the mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Due to the clinical and genetic diversity of PMD, recognition of these disorders in a clinical setting is often difficult. In this study, researchers explored the clinical utility of growth differentiation factor 15 (GDF15) as a biomarker for PMD. First, the team reviewed medical records from 418 cases where GDF15 levels were obtained by clinicians at a tertiary care hospital. Next, they classified each case as PMD due to mtDNA-related defects (mtDNA deletions, mtDNA depletion, tRNA variants), PMD due to structural defects or other nuclear causes, and non-mitochondrial disease. Patients with liver disease or systemic critical illness were excluded. Finally, GDF15 was assayed in a clinical laboratory. Results show that in a real-life clinical setting—after excluding abnormal liver function and critical illness—GDF15 had good clinical utility of increasing the odds at predicting mtDNA-related primary mitochondrial disorders by 14-fold. An elevated GDF15 had 40.8% odds of identifying an mtDNA-related mitochondrial disorder versus 2.7% if not elevated. However, GDF15 did not show good clinical utility as a biomarker for structural or other nuclear-encoded primary mitochondrial disorders.

New research from the #Brain #VascularMalformation Consortium (BVMC): ✅ Determining Current Rescreening Practices for Brain and Lung #ArteriovenousMalformations in Children and Adults with #HereditaryHemorrhagicTelangiectasia Listen and read more: https://lnkd.in/ghagevde

To learn more about the different types of #porphyria and help develop new forms of treatment, the #Porphyrias Consortium is conducting a #NaturalHistoryStudy. Robert J. Desnick, PhD, MD, shares more about the study: https://lnkd.in/gKXFyY5r

Have you read our December 2024 Spotlight on #RareDiseases newsletter? Check it out here! ➡️ https://lnkd.in/gtpQErnh