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

), mucolipidosis type IV, hexosaminidase deficiency, Fabry disease nephropathy, Batten-Turner muscular dystrophy

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Molecular and Epidemiologic Characterization of Salivary Gland Carcinomas - University of Texas M.D. Anderson Cancer Center - Adel K. El-Naggar, M.D., Ph.D.
NIH COLLABORATORS: ORDR, NIDCR
DISEASES TO BE STUDIED: Salivary gland carcinomas: mucoepidermoid carcinoma (MEC), adenoid cystic carcinoma (ACC), adenocarcinoma (ACC)

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Nephrotic Syndrome Rare Disease Clinical Research Network - University of Michigan, Ann Arbor - Matthias Kretzler, M.D.
NIH COLLABORATORS: ORDR, NIDDK
DISEASES TO BE STUDIED: Focal and segmental glomerulosclerosis (FSGS), minimal change disease (MCD) and membranous nephropathy (MN)

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: North American Mitochondrial Diseases Consortium - Columbia University Medical Center - Salvatore DiMauro, M.D.
NIH COLLABORATORS: ORDR, NINDS
DISEASES TO BE STUDIED: Mitochondrial encephalopathy lactic acidosis with stroke-like episodes (MELAS); mitochondrial neurogastrointestinal encephalomyopathy (MNGIE); Leber's hereditary optic neuropathy (LHON), LHON and dystonia, Leigh syndrome; encephalomyopathy; ALS-like syndrome of encephalomyopathy; neuropathy, ataxia and retinitis pigmentosa syndrome (NARP); maternally inherited Leigh syndrome (MILS); familial bilateral striatal necrosis (FBSN); leukodystrophy; CoQ deficiency; encephalopathy; cardioencephalomyopathy; leukodystrophy/tubulopathy; fatal infatile encephalomyopathy

CONSORTIUM TITLE, INSTITUTION, AND PRINCIPAL INVESTIGATOR: Porphyria Rare Disease Clinical Research Consortium - Mount Sinai School of Medicine of New York University - Robert J. Desnick, Ph.D., M.D.
NIH COLLABORATORS: ORDR, NIDDK
DISEASES TO BE STUDIED: Porphyrias: Acute Intermittent Porphyria
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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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