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Rare Research Report: December 2024

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

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Former LDN Fellow Paves the Way for Earlier Diagnosis in Metachromatic Leukodystrophy

September 24, 2024

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Senior Researcher Spotlight: Mohamed Kazamel Investigates Autonomic Neuropathy in the Porphyrias

January 10, 2023

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Senior Researcher Spotlight: Corey McMillan Integrates Multidisciplinary Approaches to Study Neurodegenerative Diseases

July 18, 2022

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Senior Researcher Spotlight: Kent Lai Develops Gene-Based Therapeutics for Congenital Disorders of Glycosylation

June 21, 2022

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Kent Lai, PhD, sitting in a chair in his lab

Senior Researcher Spotlight: Fernando Scaglia Explores Novel Therapeutic Approaches for Mitochondrial Disorders

June 7, 2022

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Senior Researcher Spotlight: David Peterson Develops Innovative Technologies for Dystonia

May 10, 2022

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Senior Researcher Spotlight: Linda Kusner Explores the Biology Behind Myasthenia Gravis

February 25, 2022

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CEGIR’s Glenn Furuta Receives NASPGHAN 2021 Harry Shwachman Award

December 14, 2021

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