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.
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.
|Marin-Valencia, Isaac; Novarino, Gaia; Johansen, Anide et al. (2018) A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. J Med Genet 55:48-54|
|Schaffer, Ashleigh E; Breuss, Martin W; Caglayan, Ahmet Okay et al. (2018) Biallelic loss of human CTNNA2, encoding ?N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet 50:1093-1101|
|Makrythanasis, Periklis; Maroofian, Reza; Stray-Pedersen, Asbjørg et al. (2018) Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet 26:330-339|
|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:|
|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|
|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|
|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|
|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|
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