The Neuropathology Core was established during the first five years of the Huntington's Disease Center without Walls and has continued to serve the Center during years 06-20. Our initial mission was to promote brain donation for research, to examine the brains obtained and to distribute tissue to the Center's investigators. However, we have developed expanded procedures to enhance the value of the collected brains to investigators whose specific research projects depend upon receiving carefully prepared and examined tissue.
The specific aims of the Neuropathology Core are: 1) To establish an accurate diagnosis on all brains submitted to the Center; 2) To prepare samples according to protocols that lead to standardized tissue preparation for research; 3) To organize the availability, storage and distribution of tissue samples from HD patients and from controls; 4) To build a library of paraffin embedded tissue of precise brain areas from patients with HD or with basal ganglia degeneration other than HD, and from controls for further investigations and comparisons; and 5) To apply 'in situ' hybridization (ISH) and immunoperoxidase methods for projects in the Core Laboratory. To achieve these goals, the Core includes individuals with expertise in neuropathology, morphometry, immunocytochemistry, ISH and Brain Banking. Full characterization of brains is critical to obtain maximal information from them and to enhance the value of the tissue for research. Brains are processed using methods that permit accurate diagnoses while still meeting the needs for investigators, ensuring complete and reproducible examinations across all specimens collected. The Core also assists investigators in evaluating tissue sections from human brains or animal models in comparing histologic features as revealed by conventional and specific methods and in correlating the features observed in the animal models with those recorded in human brains. The unique neuropathology of Huntington disease (HD) dictate that investigators must ultimately rely on HD human tissue to unveil its pathogenesis. Thus, in the grant renewal period, Core B will provide essential tissue and services for all projects in the HD Center.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center (P50)
Project #
2P50NS016367-21
Application #
6323404
Study Section
Project Start
2000-07-01
Project End
2001-06-30
Budget Start
Budget End
Support Year
21
Fiscal Year
2000
Total Cost
$80,915
Indirect Cost
Name
Massachusetts General Hospital
Department
Type
DUNS #
City
Boston
State
MA
Country
United States
Zip Code
02199
Lee, Jong-Min; Chao, Michael J; Harold, Denise et al. (2017) A modifier of Huntington's disease onset at the MLH1 locus. Hum Mol Genet 26:3859-3867
HD iPSC Consortium (2017) Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice. Nat Neurosci 20:648-660
Chao, Michael J; Gillis, Tammy; Atwal, Ranjit S et al. (2017) Haplotype-based stratification of Huntington's disease. Eur J Hum Genet 25:1202-1209
Shin, Aram; Shin, Baehyun; Shin, Jun Wan et al. (2017) Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels. Hum Mol Genet 26:1258-1267
Keum, Jae Whan; Shin, Aram; Gillis, Tammy et al. (2016) The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. Am J Hum Genet 98:287-98
Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium (2015) Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease. Cell 162:516-26
Biagioli, Marta; Ferrari, Francesco; Mendenhall, Eric M et al. (2015) Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation. Hum Mol Genet 24:2442-57
Ramos, Eliana Marisa; Gillis, Tammy; Mysore, Jayalakshmi S et al. (2015) Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder. Bipolar Disord 17:403-8
Correia, Kevin; Harold, Denise; Kim, Kyung-Hee et al. (2015) The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease. J Huntingtons Dis 4:279-84
Lee, Jong-Min; Kim, Kyung-Hee; Shin, Aram et al. (2015) Sequence-Level Analysis of the Major European Huntington Disease Haplotype. Am J Hum Genet 97:435-44

Showing the most recent 10 out of 42 publications