Current RDCRN Consortia

Currently, the RDCRN consists of 21 active clinical research consortia and a Data Management and Coordinating Center (DMCC). Each consortium focuses on at least three related rare diseases or conditions, participates in multisite studies and actively involves patient advocacy groups as research partners. The DMCC enables uniform high-quality data collection and analysis, and facilitates information sharing across the network. This robust data source helps scientists better understand the common elements of rare diseases so they may apply that knowledge to improving diagnosis and treatment for these conditions. 

RDCRN Data Management and Coordinating Center (DMCC)

Maurizio Macaluso, M.D., DrPH, FACE and Michael Wagner, Ph.D.
Cincinnati Children’s Hospital Medical Center

Learn more about this project in NIH RePORTER.

Advancing Craniosynostosis Treatment Rare Diseases Consortium (ACT)

Eric Chien-Wei Liao, M.D., Ph.D. - Children's Hospital of Philadelphia
Jing Huang, M.D. - Children's Hospital of Philadelphia
Jesse Taylor, M.D. - Children's Hospital of Philadelphia
Mark Urata, M.D., D.D.S. - Children's Hospital Los Angeles

Learn more about this project in NIH RePORTER.

Advancing Rare Disorders: Vascular mAlformation Research Network with CaNVAS (ARDVARC)

Denise Martin Adams, M.D. - Children's Hospital of Philadelphia
Michael Jeng, M.D. – Stanford University

Learn more about this project in NIH RePORTER.

Autoimmunity, Rasmussen’s, Inflammation & Status Epilepticus research Network (ARISEN)

Grace Gombolay, M.D. and Kristy Murray, D.V.M., Ph.D.
Emory School of Medicine, Atlanta

Learn more about this project in NIH RePORTER.

Batten Disease Clinical Research Consortium (BDCRC)

Erika Augustine, M.D., M.S.
Kennedy Krieger Institute, Baltimore

Learn more about this project in NIH RePORTER.

Brain Vascular Malformation Consortium (BVMC)

Helen Kim, M.P.H., Ph.D.
University of California, San Francisco

Learn more about this project in NIH RePORTER.

Brittle Bone Disorders Consortium (BBDC)

Brendan Lee, M.D., Ph.D.
Baylor College of Medicine, Houston

Learn more about this project in NIH RePORTER.

Clinical Research in Amyotrophic Lateral Sclerosis and Related Disorders for Therapeutic Development (CReATe)

Michael Benatar, MD., Ph.D.
University of Miami Miller School of Medicine, Florida

Learn more about this project in NIH RePORTER.

Congenital and Perinatal Infections Consortium (CPIC)

David Kimberlin, M.D.
University of Alabama at Birmingham

Learn more about this project in NIH RePORTER.

Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR)

Marc E. Rothenberg, M.D., Ph.D.
Cincinnati Children’s Hospital Medical Center

Learn more about this project in NIH RePORTER.

Developmental Synaptopathies Consortium (DSC)

Mustafa Sahin, M.D., Ph.D.
Boston Children’s Hospital

Learn more about this project in NIH RePORTER.

Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)

Adeline L. Vanderver, M.D. – Children's Hospital of Philadelphia
Florian S. Eichler, M.D. – Massachusetts General Hospital, Boston
S. Ali Fatemi, M.D., M.B.A. – Kennedy Krieger Institute, Baltimore
Robert Grundmeier, M.D. – Children's Hospital of Philadelphia
Laura Adang, M.D., Ph.D. – Children's Hospital of Philadelphia

Learn more about this project in NIH RePORTER.

Initiation of a cohort to define pathogenic Mechanisms, Precision diagnosis And Complications of Thrombotic Microangiopathies: The IMPACT Study (IMPACT)

Robert A. Brodsky, M.D. – Johns Hopkins University, Baltimore
Spero Cataland, M.D. – The Ohio State University, Columbus
Shruti Chaturvedi, M.B.B.S., M.S. – Johns Hopkins University, Baltimore
Marshall Mazepa, M.D. - University of Minnesota, Minneapolis

Learn more about this project in NIH RePORTER.

Myasthenia Gravis Rare Disease Network (MGNet)

Henry J. Kaminski, M.D.
The George Washington University, Washington, D.C.

Learn more about this project in NIH RePORTER.

Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR)

Nicole Tartaglia, M.D.
University of Colorado Denver

Learn more about this project in NIH RePORTER.

North American Mitochondrial Disease Consortium (NAMDC)

Michio Hirano, M.D.
Columbia University, New York

Learn more about this project in NIH RePORTER.

Pediatric Fungal Network STudy of Rare Invasive Fungal DisEases in Immunocompromised Pediatric Patients (PFN-STRIDE)

Brian T. Fisher, D.O., MPH, MSCE - Children's Hospital of Philadelphia
William J. Steinbach, M.D. - Arkansas Children's Hospital, Little Rock

Learn more about this project in NIH RePORTER.

Phenylalanine Families and Researchers Exploring Evidence (PHE FREE)

Cary Harding, M.D.
Oregon Health & Science University, Portland

Learn more about this project in NIH RePORTER.

Rare Bronchiectatic Diseases Consortium (RBDC)

Kenneth N. Olivier, M.D., MPH and Richard Boucher, M.D.
University of North Carolina at Chapel Hill

 Learn more about this project in NIH RePORTER.

Rare Organic Acidemias Research Consortium (ROAR)

Vernon R. Sutton, M.D. and Lindsay C. Burrage, M.D., Ph.D.
Baylor College of Medicine, Houston

Learn more about this project in NIH RePORTER.

Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)

Darius Ebrahimi-Fakhari, M.D., Ph.D. - Boston Children’s Hospital
Michael Shy, M.D. – University of Iowa, Iowa City
Stephan Züchner, M.D., Ph.D. - University of Miami Miller School of Medicine, Florida

Learn more about this project in NIH RePORTER.

Urea Cycle Disorders Consortium (UCDC)

Nicholas Ah Mew, M.D. - Children's National Medical Center, Washington D.C.
Andrea L. Gropman, M.D., FAAP, FACMG - St. Jude Children’s Research Hospital, Memphis
Sandesh C.S. Nagamani, M.D. - Baylor College of Medicine, Houston

Learn more about this project in NIH RePORTER.

Active RDCRN Alumni Consortia

Dystonia Coalition

Hyder A. Jinnah, M.D., Ph.D.
Emory University, Atlanta

Frontiers in Congenital Disorders of Glycosylation (FCDGC)

Eva Morava-Kozicz, M.D., Ph.D.
Icahn School of Medicine at Mount Sinai, New York

Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)

Stephanie Davis, M.D. 
Thomas Ferkol, M.D.
The University of North Carolina at Chapel Hill

Inherited Neuropathy Consortium (INC)

Michael E. Shy, M.D.
University of Iowa, Iowa City

Lysosomal Disease Network (LDN)

Chester B. Whitley, M.D., Ph.D.
University of Minnesota, Minneapolis

Nephrotic Syndrome Study Network (NEPTUNE)

Matthias Kretzler, M.D.
University of Michigan, Ann Arbor

Porphyrias Consortium (PC)

Robert J. Desnick, Ph.D., M.D.
Icahn School of Medicine at Mount Sinai, New York

Primary Immune Deficiency Treatment Consortium (PIDTC)

Jennifer M. Puck, M.D.
University of California, San Francisco

Vasculitis Clinical Research Consortium (VCRC)

Peter A. Merkel, M.D., M.P.H.
University of Pennsylvania, Philadelphia