Abstract

The objective of this project is to systemically collect and distribute high quality biopsy and/or freshly autopsied tissues from """"""""unaffected"""""""" (control) individuals and from patients who had been diagnosed to have a known or unknown forms of mental retardation, developmental disabilities, or infants who dies of sudden infant death syndrome (SIDS). Among the conditions from whom specimens will be obtained include those with chromosome defects, mitochondrial myoencephalopathies, phenylketonuria and other aminoacidopathies, organic acidurias, maternal PKU, Rett syndrome, leukodystrophies, lysosomal storage disorders, dyslexia, autism, and other neurodevelopmental disorders. The repository will serve as a research resource for qualified investigators to support and facilitate research that will lead to an improved understanding of the etiology, pathology, pathogenesis, and clinical-pathological correlation of conditions that are associated with SIDS, mental retardation, learning and behavioral deficits. Since the repository will collect normal and abnormal brains at various prenatal and postnatal stages of development, it can also provide material for the longitudinal studies of brain development and its malformations.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research and Development Contracts (N01)
Project #
N01HD013138-006
Application #
2314850
Study Section
Project Start
1991-09-16
Project End
1996-09-15
Budget Start
1993-09-28
Budget End
1994-09-15
Support Year
Fiscal Year
1993
Total Cost
Indirect Cost

  Institution

Name
University of Maryland Baltimore
Department
Pediatrics
Type
Schools of Medicine
DUNS #
003255213
City
Baltimore
State
MD
Country
United States
Zip Code
21201

  Publications

van Kooten, Imke A J; Palmen, Saskia J M C; von Cappeln, Patricia et al. (2008) Neurons in the fusiform gyrus are fewer and smaller in autism. Brain 131:987-99
Westerlund, M; Belin, A C; Anvret, A et al. (2008) Developmental regulation of leucine-rich repeat kinase 1 and 2 expression in the brain and other rodent and human organs: Implications for Parkinson's disease. Neuroscience 152:429-36
Uhl, George R; Drgon, Tomas; Johnson, Catherine et al. (2008) Molecular genetics of addiction and related heritable phenotypes: genome-wide association approaches identify ""connectivity constellation"" and drug target genes with pleiotropic effects. Ann N Y Acad Sci 1141:318-81
Ishiguro, Hiroki; Walther, Donna; Arinami, Tadao et al. (2007) Variation in a bicarbonate co-transporter gene family member SLC4A7 is associated with propensity to addictions: a study using fine-mapping and three samples. Addiction 102:1320-5
Peddada, Sailaja; Yasui, Dag H; LaSalle, Janine M (2006) Inhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome. Hum Mol Genet 15:2003-14
Ishiguro, Hiroki; Liu, Qing-Rong; Gong, Jian-Ping et al. (2006) NrCAM in addiction vulnerability: positional cloning, drug-regulation, haplotype-specific expression, and altered drug reward in knockout mice. Neuropsychopharmacology 31:572-84
Kishore, Shivendra; Stamm, Stefan (2006) The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science 311:230-2
Perlman, W R; Matsumoto, M; Beltaifa, S et al. (2005) Expression of estrogen receptor alpha exon-deleted mRNA variants in the human and non-human primate frontal cortex. Neuroscience 134:81-95
Samaco, Rodney C; Hogart, Amber; LaSalle, Janine M (2005) Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet 14:483-92
Thatcher, Karen N; Peddada, Sailaja; Yasui, Dag H et al. (2005) Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples. Hum Mol Genet 14:785-97

Showing the most recent 10 out of 28 publications