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

(AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), aminolevulinate dehydratase deficiency porphyria (ADP), porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), congenital porphyria (CP)

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Primary Immune Deficiency Treatment Consortium - University of California, San Francisco - Morton Cowan, M.D.
NIH COLLABORATORS: ORDR, NIAID
DISEASES TO BE STUDIED: Primary immune deficiencies: severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome (WAS) and chronic granulomatous disease (CGD)

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Spinocerebellar Ataxia - Clinical Research Consortium - University of Florida, Gainesville - Tetsuo Ashizawa, M.D.
NIH COLLABORATORS: ORDR, NINDS
DISEASES TO BE STUDIED: Spinocerebellar ataxia: SCA 1, 2, 3, and 6

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Sterol and Isoprenoid Diseases Consortium - Oregon Health and Science University - Robert David Steiner, M.D.
NIH COLLABORATORS: ORDR, NICHD
DISEASES TO BE STUDIED: Niemann-Pick disease type C, Smith-Lemli-Opitz syndrome, Sjgren-Larsson syndrome, mevalonate kinase deficiency, hyper-IgD syndrome, cerebrotendinous xanthomatosis (CTX), sitosterolemia

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Urea Cycle Disorders Consortium - Children's National Medical Center Research Institute - Mark L. Batshaw, M.D.
NIH COLLABORATORS: ORDR, NICHD
DISEASES TO BE STUDIED: Urea cycle disorders: N-acetylglutamate synthetase (NAGS) deficiency, carbamoyl phosphate synthase 1 (CPS) deficiency, ornithine transcarbamylase (OTC) deficiency, argininosuccinate synthetase deficiency (classic citrullinemia), citrin deficiency (citrullinemia type 2), argininosuccinate lyase deficiency (argininosuccinic aciduria), arginase deficiency (hyperargininemia), ornithine translocase deficiency syndrome (HHH)

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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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