Appendix: Rare Diseases Clinical Research Network

Appendix: Rare Diseases Clinical Research Network

Data Management & Coordinating Center (NS064808, NINDS): Jeffrey P. Krischer, PhD, PI, University of South Florida.

Current Consortia:

Angelman, Rett, & Prader-Willi Syndromes Consortium *(HD061222, NICHD/ORDR): Alan K. Percy, MD, Consortium PI, University of Alabama at Birmingham.

Autonomic Rare Diseases Clinical Research Consortium (NS065736, NINDS): David H. Robertson, MD, Consortium PI, Vanderbilt University.

Brain Vascular Malformation Consortium (NS065705, ORDR): Michael T. Lawton, MD, Consortium PI, University of California, San Francisco.

Chronic Graft Versus Host Disease Consortium (CA163438, NCI): Stephanie J. Lee, MD, MPH, Consortium PI, Fred Hutchinson Cancer Research Center.

Dystonia Coalition (NS065701, ORDR): Hyder A. Jinnah, MD, PhD, Consortium PI, Emory University.

Genetic Disorders of Mucociliary Clearance* (HL096458, ORDR): Michael R. Knowles, MD, Consortium PI, University of North Carolina at Chapel Hill.

Inherited Neuropathies Consortium (NS065712, NINDS): Michael E. Shy, MD, Consortium PI, University of Iowa Healthcare.

Lysosomal Disease Network (NS065768, NINDS/NIDDK/ORDR): Chester B. Whitley, MD, Consortium PI, University of Minnesota Twin Cities/Mayo Clinic.

Nephrotic Syndrome Study Network (DK083912, ORDR): Matthias Kretzler, MD, Consortium PI, University of Michigan.

North American Mitochondrial Diseases Consortium (NS078059, NINDS/NICHD): Michio Hirano, MD, Consortium PI, Columbia University Medical Center.

Porphyrias Consortium (DK083909, NIDDK/ORDR): Robert J. Desnick, PhD, MD, Consortium PI, Mount Sinai School of Medicine.

Primary Immune Deficiency Treatment Consortium (AI082973, NIAID): Morton J. Cowan, MD, Consortium PI, University of California, San Francisco.

Rare Kidney Stone Consortium (DK083908, NIDDK/ORDR): Dawn S. Milliner, MD, Consortium PI, Mayo Clinic.

Salivary Gland Carcinomas Consortium (DE019765, NIDCR): Adel K. El-Naggar, MD, PhD, Consortium PI, MD Anderson Cancer Center.

Sterol and Isoprenoid Diseases Consortium (HD061939, NICHD/ORDR): Robert D. Steiner, MD, Consortium Co-PI, Marshfield Clinic Research Foundation; Jean-Baptiste Roullet, PhD, Consortium Co-PI, Oregon Health & Sciences University.

Urea Cycle Disorders Consortium * (HD061221, ORDR/NICHD): Mark L. Batshaw, MD, Consortium PI, Children’s Research Institute.

Vasculitis Clinical Research Consortium* (AR057319, ORDR/NIAMS): Peter A. Merkel, MD, MPH, Consortium PI, University of Pennsylvania.

*Funded in the first grant cycle as well.

Previous Consortia:

Rare Lung Diseases Clinical Research Network: Bruce C. Trapnell, MD, Consortium PI, Children's Hospital Medical Center, Cincinnati, Ohio

Bone Marrow Failure Clinical Research Center: Jaroslaw P. Maciejewski, MD, Consortium PI. Cleveland Clinic

Nervous System Channelopathies Pathogenesis and Treatment: Robert C.

Griggs, MD Consortium PI, University of Rochester

Natural History of Rare Genetic Steroid Disorders: Maria I. New, MD Consortium PI, Mt Sinai College of Medicine

Rare Liver Diseases: Ronald Sokol, MD Consortium PI, University of Colorado

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