This Administrative Core (Core A) will have two major functions. First, it will provide administrative support and intellectual enrichment for the investigators in this program. Due to the fact that the Program includes 5 senior investigators from two institutions (UCSD and the Scripps Research Institute) belonging to several Departments: Pediatrics, Medicine, Neuroscience (School of Medicine at UCSD), Computer Science (UCSD) and the Scripps Research Institute. Additionally, three different species will be used forthis work (Human, Mouse, Zebrafish) and work accomplished at four different campuses (UCSD School of Medicine, UCSD Cancer Center, UCSD Computer Sciences, Scripps Research Institute). Because of this and the multi-disciplinary nature ofthe Program, a central administrative core is essential. The Core will work closely with the Administration of the two major institutions, as well as administrators, business managers, and scientists in each Department involved. The Administrative Core will assist individual investigators in budgeting as well as coordinate travel, purchasing, meetings and seminars. The second function of the Administrative Core will be to provide and encourage intellectual collaboration between members ofthe Program Project, faculty within the University (who are not members of this Program Project), and outside consultants. The Core will achieve these objectives in two ways: A) We will have a monthly two-hour seminar for all investigators in this Program. Research progress will be presented by one of the Program's investigators during each seminar. This will average about 10-12 seminars per year and about 2-3 per Project/year. We will also have the Directors of Cores B and C present new data generation and analytical techniques, especially in the rapidly moving field of genomics and bioinformatics. B) The Program Project plans to have outside experts visit each year as consultants, at least one of the Project groups. The role of the consultant will be to work directly with his/her host, to advise regarding their progress, to suggest possible new directions for both the individual Projects and potentially the overall Program. In addition, we propose also to have mid-term whole day symposium during which we invite consultants whose work is on some aspects of the research of each Project. During these workshops, each of the PIs will presents their progress over the preceding 2 years and the outside experts are asked to critically evaluate the progress of each project.

Public Health Relevance

This Core will be in charge of providing the administrative structure for the PPG. It will help in enhancing the interactions between investigators, prepare the budgets, and develop a seminar series that will provide a forum for intellectual exchange.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Program Projects (P01)
Project #
5P01HD070494-03
Application #
8528654
Study Section
Special Emphasis Panel (ZHD1-DSR-Y)
Project Start
Project End
Budget Start
2013-08-01
Budget End
2014-07-31
Support Year
3
Fiscal Year
2013
Total Cost
$90,978
Indirect Cost
$54,429
Name
University of California San Diego
Department
Type
DUNS #
804355790
City
La Jolla
State
CA
Country
United States
Zip Code
92093
De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano et al. (2017) Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. Am J Hum Genet 101:552-563
Breuss, Martin W; Nguyen, Thai; Srivatsan, Anjana et al. (2017) Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. Hum Mol Genet 26:258-269
Marin-Valencia, Isaac; Gerondopoulos, Andreas; Zaki, Maha S et al. (2017) Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. Am J Hum Genet 101:441-450
Friedman, Jennifer; Feigenbaum, Annette; Chuang, Nathaniel et al. (2017) Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia. Neurology 89:2297-2298
Koizumi, Hiroyuki; Fujioka, Hiromi; Togashi, Kazuya et al. (2017) DCLK1 phosphorylates the microtubule-associated protein MAP7D1 to promote axon elongation in cortical neurons. Dev Neurobiol 77:493-510
Lardelli, Rea M; Schaffer, Ashleigh E; Eggens, Veerle R C et al. (2017) Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet 49:457-464
McConnell, Michael J; Moran, John V; Abyzov, Alexej et al. (2017) Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science 356:
T?rlungeanu, Dora C; Deliu, Elena; Dotter, Christoph P et al. (2016) Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. Cell 167:1481-1494.e18
Johansen, Anide; Rosti, Rasim O; Musaev, Damir et al. (2016) Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. Am J Hum Genet 99:912-916
Scott, Eric M; Halees, Anason; Itan, Yuval et al. (2016) Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet 48:1071-6

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