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.
|Zaki, Maha S; Selim, Laila; El-Bassyouni, Hala T et al. (2016) Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients. Eur J Paediatr Neurol 20:714-22|
|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|
|Rosti, Rasim O; Dikoglu, Esra; Zaki, Maha S et al. (2016) Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. Am J Med Genet A 170A:992-8|
|Jerber, Julie; Zaki, Maha S; Al-Aama, Jumana Y et al. (2016) Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. Am J Hum Genet 99:1181-1189|
|Li, Hongda; Saucedo-Cuevas, Laura; Regla-Nava, Jose A et al. (2016) Zika Virus Infects Neural Progenitors in the Adult Mouse Brain and Alters Proliferation. Cell Stem Cell 19:593-598|
|Roosing, Susanne; Rosti, Rasim O; Rosti, Basak et al. (2016) Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. Hum Genet 135:919-21|
|Li, Hongda; Bielas, Stephanie L; Zaki, Maha S et al. (2016) Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. Am J Hum Genet 99:501-10|
|Breuss, Martin W; Sultan, Tipu; James, Kiely N et al. (2016) Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet 99:228-35|
|Kariminejad, A; SchÃ¶ls, L; SchÃ¼le, R et al. (2016) CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia. Eur J Paediatr Neurol 20:782-7|
Showing the most recent 10 out of 57 publications