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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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Porphyrias Over Time: What We’re Learning from a Natural History Study

December 17, 2024

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Porphyrias Over Time: What We're Learning from a Natural History Study

Leukodystrophy Over Time: What We’re Learning from a Natural History Study

November 26, 2024

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Leukodystrophy Over Time: What We’re Learning from a Natural History Study

Artificial Intelligence-Powered Telemedicine Tool Automates Scoring of Neuromuscular Examinations in Myasthenia Gravis

October 28, 2024

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Screenshot of the graphic user interface used by doctors for remote examinations. Source: Bioengineering journal

Pompe Disease Over Time: What We’re Learning from a Natural History Study

September 25, 2024

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Pompe Disease Over Time: What We're Learning from a Natural History Study

Eosinophilic Gastrointestinal Diseases Over Time: What We’re Learning from a Natural History Study

July 22, 2024

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Eosinophilic Gastrointestinal Diseases Over Time: What We’re Learning from a Natural History Study

Dystonia Over Time: What We’re Learning from a Natural History Study

June 26, 2024

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Dystonia Over Time: What We're Learning from a Natural History Study

Phenylketonuria Over Time: What We’re Learning from a Natural History Study

May 28, 2024

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Phenylketonuria Over Time: What We’re Learning from a Natural History Study

Phelan-McDermid Syndrome Over Time: What We’re Learning from a Natural History Study

April 25, 2024

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Phelan-McDermid Syndrome Over Time: What We’re Learning from a Natural History Study