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NIH announces expansion of Rare Diseases Clinical Research Network
Date:10/6/2009

c dysphonia, craniofacial dystonia, limb dystonia

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Genetic Disorders of Mucociliary Clearance -University of North Carolina at Chapel Hill - Michael R. Knowles, M.D.
NIH COLLABORATORS: ORDR, NHLBI
DISEASES TO BE STUDIED: Primary ciliary dyskinesia (PCD), cystic fibrosis (CF), pseudohypoaldosteronism (PHA)

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Hereditary Causes of Nephrolithiasis and Kidney Failure - Mayo Clinic College of Medicine, Rochester - Dawn S. Milliner, M.D.
NIH COLLABORATORS: ORDR, NIDDK
DISEASES TO BE STUDIED: Rare hereditary stone diseases: primary hyperoxaluria, cystinuria, dihydroxyadeninuria, Dent's disease

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Immune Mediated Disorders After Allogeneic Hematopoietic Stem Cell Transfer - Fred Hutchinson Cancer Research Center - Stephanie J. Lee, M.D., M.P.H.
NIH COLLABORATORS: ORDR, NIAID
DISEASES TO BE STUDIED: Cutaneous sclerosis, bronchiolitis obliterans, late acute graft versus host disease (GVHD)

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Inherited Neuropathies Consortium - Wayne State University - Michael E. Shy, M.D.
NIH COLLABORATORS: ORDR, NINDS
DISEASES TO BE STUDIED: Inherited peripheral neuropathies: Charcot-Marie-Tooth diseases (CMT) including 1) CMT1, the dominantly inherited demyelinating neuropathies, 2) CMT2, the dominantly inherited axonal neuropathies, 3) CMT4, the recessively inherited neuropathies

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Lysosomal Disease Network -University of Minnesota Twin Cities - Chester B. Whitley, M.D.
NIH COLLABORATORS: ORDR, NINDS, NIDDK
DISEASES TO BE STUDIED: Lysosomal diseases: mucopolysaccharidosis (MPS), MPS bone disease, Pompe disease, Niemann-Pick disease type C, glycoproteinoses, Wolman disease, late infantile ceroid lipofuscinosis, (LINCL
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Contact: Kelli Marciel
Kelli.Marciel@nih.gov
301-496-4819
NIH/National Institutes of Health, Office of Disease Prevention
Source:Eurekalert

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