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Rare Research Report: January 2025

Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications.

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Researchers Discover New Gene Causing Primary Ciliary Dyskinesia

September 16, 2020

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Expression and localization of CFAP57 in human airway epithelial cells. © 2020 Bustamante-Marin et al.

Data Helps Researchers Link Cavernous Angioma to Disordered Gut Microbiomes

June 11, 2020

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Researchers Identify New Congenital Disorder of Glycosylation, GALNT2-CDG

May 26, 2020

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Abstract from FCDGC video

New Lung Disease Reveals Gene Regulating Airway Mucociliary Clearance

May 5, 2020

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Visit the Rare Diseases Clinical Research Network on Feb. 28 at Rare Disease Day at NIH

February 20, 2020

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The Rare Diseases Clinical Network and NIH logos appear over a geometric design featuring fuchsia, teal, and purple triangles.

NIH Director Dr. Francis Collins References CReATe Consortium and ALS Research During FY2020 Budget Request

April 12, 2019

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CReATe Consortium initiates biomarker validation study in preparation for clinical trials

February 27, 2019

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Scientists at CCHMC Uncover Three Distinct Subtypes of Eosinophilic Esophagitis (EoE)

July 6, 2018

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Eosinophilic Esophagitis (EoE)