This Core has been an integral part of the Program Project since its inception. It will continue to provide investigators with cytogenetic documentation of DS whenever this information is not available in the medical records of the participant. In addition, it will continue to provide Apolipoprotein E (APOE) genotyping and will maintain archives of DNA as well as frozen buffy coat cells and immortalized lymphoblastoid cell lines. Together with the detailed characterization of these people provided by other Program components, these resources will be of great value for our current and future investigations as new biomarkers are identified as possible diagnostic indicators or risk factors. For example, when feasible, some of the buffy coat samples have been provided to determine whether telomere shortening may serve as a biomarker of mild cognitive impairment/dementia status in DS.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Program Projects (P01)
Project #
5P01HD035897-25
Application #
8471144
Study Section
Special Emphasis Panel (ZHD1-MRG-C)
Project Start
Project End
Budget Start
2013-06-01
Budget End
2014-05-31
Support Year
25
Fiscal Year
2013
Total Cost
$176,850
Indirect Cost
$11,177
Name
Hugo W. Moser Research Institute Kennedy Krieger
Department
Type
DUNS #
155342439
City
Baltimore
State
MD
Country
United States
Zip Code
21205
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Mendioroz, Maite; Do, Catherine; Jiang, Xiaoling et al. (2015) Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models. Genome Biol 16:263
Schupf, Nicole; Lee, Annie; Park, Naeun et al. (2015) Candidate genes for Alzheimer's disease are associated with individual differences in plasma levels of beta amyloid peptides in adults with Down syndrome. Neurobiol Aging 36:2907.e1-10
Hobbs, Charlotte A; Chowdhury, Shimul; Cleves, Mario A et al. (2014) Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA Pediatr 168:371-7
Krinsky-McHale, Sharon J; Silverman, Wayne; Gordon, James et al. (2014) Vision deficits in adults with Down syndrome. J Appl Res Intellect Disabil 27:247-63
Janicki, S C; Park, N; Cheng, R et al. (2014) Estrogen receptor α variants affect age at onset of Alzheimer's disease in a multiethnic female cohort. Dement Geriatr Cogn Disord 38:200-13
Zigman, Warren B (2013) Atypical aging in Down syndrome. Dev Disabil Res Rev 18:51-67
Esbensen, Anna J; Mailick, Marsha R; Silverman, Wayne (2013) Long-term impact of parental well-being on adult outcomes and dementia status in individuals with Down syndrome. Am J Intellect Dev Disabil 118:294-309
Janicki, S C; Park, N; Cheng, R et al. (2013) Aromatase variants modify risk for Alzheimer's disease in a multiethnic female cohort. Dement Geriatr Cogn Disord 35:340-6
Xing, Luzhou; Salas, Martha; Zhang, Hong et al. (2013) Creation and characterization of BAC-transgenic mice with physiological overexpression of epitope-tagged RCAN1 (DSCR1). Mamm Genome 24:30-43

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