This application for supplementary funding to the Baylor College of Medicine Mental Retardation and Developmental Disabilities Research Center seeks to renew a collaborative Fragile X Syndrome Research Center composed of investigators at Baylor College of Medicine in Houston, TX and Emory University School of Medicine in Atlanta, GA. The application seeks continued support for three investigator-initiated research projects, plus funding for a fourth project and for three core facilities. The four projects will revolve around a common theme of determining the full spectrum of phenotypes and their underlying pathological causes in humans and mice with genetic alterations in the FMR1 gene, with a goal of discovering and testing effective treatment. An Administrative Core will be proposed to facilitate interactions among the four investigative groups and the two institutions, and funding is sought to expand core services currently provided by the BCM MRDDRC Mouse Neurobehavior Core directed by Dr. Richard Paylor. Additional support will allow the core to expand services into the area of measurement of the efficacy of treatment. The four investigators proposing projects are Drs. David Nelson and Richard Paylor of Baylor College of Medicine, and Drs. Stephen Warren and Stephanie Sherman of Emory University. Each of these investigators has a strong track record of research into fragile X syndrome, and there have been extensive collaborative interactions among these investigators spanning two decades. Dr. Nelson's project is the new addition to the Center, with a focus on using mouse models to understand the developmental timing requirements for FMR1. Dr. Sherman will continue her studies of the human male premutation phenotype that involves late onset tremor and cognitive decline. Dr. Warren will test drug treatments in fly models and mouse neurons, and Dr. Paylor will focus on measuring behavioral and electrophysiological responses to genetic alterations to the Fmr1 knock-out mouse model. Dr. Gary Bassell will establish a Neuronal Imaging Core at Emory University. Dr. Bassell also has a strong track record in research into fragile X syndrome, and is an expert in imaging molecules in neurons. He proposes a core that will offer his expertise to the projects proposed in the Center, allowing better definition of phenotypes in mouse models and methods to assess treatment outcomes. These projects offer improved understanding of the function of FMR1 and potential treatments. ? ? ?

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Center Core Grants (P30)
Project #
3P30HD024064-20S1
Application #
7464066
Study Section
Special Emphasis Panel (ZHD1-MRG-C (30))
Program Officer
Urv, Tiina K
Project Start
1997-08-01
Project End
2013-06-30
Budget Start
2008-07-01
Budget End
2009-06-30
Support Year
20
Fiscal Year
2008
Total Cost
$1,333,333
Indirect Cost
Name
Baylor College of Medicine
Department
Pediatrics
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
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
Beaudet, Arthur L (2017) Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis. Bioessays 39:
Marom, Ronit; Jain, Mahim; Burrage, Lindsay C et al. (2017) Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat 38:1365-1371

Showing the most recent 10 out of 709 publications