The Baylor College of Medicine (BCM) Mental Retardation and Developmental Disabilities Research Center (MRDDRC) was established on August 1, 1988 and has been continuously funded with the last renewal of funding on August 1, 1998. The overall goals of the Baylor MRDDRC are to identify as many causes of mental retardation and developmental disabilities as possible, to prevent these disorders, and to provide interventional schemes that can improve the quality of life of afflicted individuals and ameliorate their disability whenever possible. The specific objectives are: 1) to enhance mental retardation activities at BCM by encouraging and focusing research efforts on etiology, diagnosis, prevention, pathogenesis and intervention of MRDD; 2) to continue to promote a multidisciplinary approach to MRDD research by improving interactions between Center investigators, and by continuing to develop and to apply leading edge technologies; 3) to enhance the productivity of project investigators through effective and efficient research core units and to facilitate translational research efforts by providing clinical research support; 4) to recruit new investigators into the field of MRDD research through scientific interactions with Center investigators and by providing the infrastructure for a multidisciplinary approach through the MRDDRC cores; and 5) to promote scientific and collaborative interactions with investigators outside Baylor who have demonstrated a major commitment to study and treat MRDD. The research projects will be supported by the Administrative Core (A), and by seven research cores: Genome Analysis, which includes FISH and Genome-Based Arrays (B), Gene Expression which includes Neuropathology, Confocal, RNA in situ, and MicroArray Expression (C), Tissue Culture (D), Clinical Research (E), Mouse Genetic Engineering, which includes Mouse Embryonic Stem Cell and Mouse Microinjection (F), Mouse Neurobehavior (G), and Mouse Physiology (H). There are 53 faculty participants, including 46 research project investigators and 83 research projects. The scope of research at the BCM MRDDRC will include the following eleven topic areas: 1) neurobiology, cellular and molecular aspects of brain development, 2) inborn errors of metabolism, 3) genetic and epigenetic basis of diseases, 4) innovative technologies for diagnosis & screening MRDD, 5) animal models for pathogenesis & therapeutic intervention, 6) pathways that affect function of nervous system, 7) molecular, behavioral & therapeutic studies in MR syndrome, 8) clinical trials, 9) infectious diseases, 10) methods to define clinical phenotypes, and 11) studies of Autism & Autism Spectrum disorders. ? ?

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Center Core Grants (P30)
Project #
5P30HD024064-18
Application #
7098896
Study Section
Special Emphasis Panel (ZHD1-MRG-C (27))
Program Officer
Vitkovic, Ljubisa
Project Start
1997-08-01
Project End
2009-06-30
Budget Start
2006-07-01
Budget End
2007-06-30
Support Year
18
Fiscal Year
2006
Total Cost
$2,328,242
Indirect Cost
Name
Baylor College of Medicine
Department
Genetics
Type
Schools of Medicine
DUNS #
051113330
City
Houston
State
TX
Country
United States
Zip Code
77030
Kho, Jordan; Tian, Xiaoyu; Wong, Wing-Tak et al. (2018) Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet 103:276-287
Eblimit, Aiden; Zaneveld, Smriti Agrawal; Liu, Wei et al. (2018) NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res 173:32-43
Lanzieri, Tatiana M; Chung, Winnie; Leung, Jessica et al. (2018) Hearing Trajectory in Children with Congenital Cytomegalovirus Infection. Otolaryngol Head Neck Surg 158:736-744
Madan, Simran; Kron, Bettina; Jin, Zixue et al. (2018) Arginase overexpression in neurons and its effect on traumatic brain injury. Mol Genet Metab 125:112-117
De Maio, Antonia; Yalamanchili, Hari Krishna; Adamski, Carolyn J et al. (2018) RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins. Cell Rep 25:726-736.e7
Reeber, Stacey L; Arancillo, Marife; Sillitoe, Roy V (2018) Bergmann Glia are Patterned into Topographic Molecular Zones in the Developing and Adult Mouse Cerebellum. Cerebellum 17:392-403
Gillentine, Madelyn A; Lupo, Philip J; Stankiewicz, Pawel et al. (2018) An estimation of the prevalence of genomic disorders using chromosomal microarray data. J Hum Genet 63:795-801
Liu, Pengfei; Yuan, Bo; Carvalho, Claudia M B et al. (2017) An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell 168:830-842.e7
Duran, Ivan; Martin, Jorge H; Weis, Mary Ann et al. (2017) A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen. J Bone Miner Res 32:1309-1319
Jin, Haoxing Douglas; Demmler-Harrison, Gail J; Coats, David K et al. (2017) Long-term Visual and Ocular Sequelae in Patients With Congenital Cytomegalovirus Infection. Pediatr Infect Dis J 36:877-882

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