? BIOANALYTIC AND ADMINISTRATION CORE This P01 renewal application is in response to RFA, HD-16-009 from the NICHD Institute of NIH. The scientific goal of the Bio-analytics and Administrative Core is to provide analytical and administrative oversight for the P01. The Bio-analytics Component of the Core is designed to oversee and standardize the bioinformatic and statistical genetics approaches of all three projects. The importance of data analysis is key to the success of the program, and based upon the large amount of data that exists and will be generated, analysis is perhaps the most important part. Project 3 will generate a gene network important in the embryonic precursor to the aortic arch and cardiac outflow tract. It is termed the pharyngeal apparatus integrative network, or PA-INet. Project 3 will generate and the Core will house additional biologically relevant gene-sets that both Projects 1 and 2 will utilize to analyze genetics data. It is necessary that all three projects are on the same page, analyzing the same data, so as to maximize cross comparisons. This is why it is important to have a specific Core to handle this. Further, the same can be said for the biostatistical analysis. Although Project 1 uses primarily a case-control design and Project 2 uses a family based design, the types of data (SNP genotyping arrays; whole exome sequencing) are similar, as are the bioinformatic approaches. The analysis of data and available tools with databases, especially for uncovering the function of noncoding DNA variants are rapidly changing at this time, when whole genome sequencing is emerging as the main type of genetic data to be generated to understand the basis of human disease. The Core will be at the forefront of implementation of new software tools and datasets so as to ensure that the three projects continue to take advantage of new knowledge. It is also important to train the next generation of scientists, for which this P01 takes very seriously. The internal advisory team will make all efforts to train students and postdoctoral fellows in the area of human genetics and animal model studies of human structural birth defects. The Administrative Component of the Core will oversee the organization, make sure that the work is going optimally and will intervene via internal advisory teams as per expertise needed. Since the three groups are located in New York City, Philadelphia and Houston, the Administrative Component will oversee all interactive meetings and house 3-4 face-to-face meetings per year. This Component will also be in charge of finances, IRB progress reports and animal protocols of the P01. !

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Program Projects (P01)
Project #
5P01HD070454-08
Application #
9356531
Study Section
Special Emphasis Panel (ZHD1)
Project Start
Project End
Budget Start
2017-07-01
Budget End
2018-06-30
Support Year
8
Fiscal Year
2017
Total Cost
Indirect Cost
Name
Albert Einstein College of Medicine, Inc
Department
Type
DUNS #
079783367
City
Bronx
State
NY
Country
United States
Zip Code
10461
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Zhao, Yingjie; Guo, Tingwei; Fiksinski, Ania et al. (2018) Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects. Am J Med Genet A 176:2172-2181
Morrow, Bernice E; McDonald-McGinn, Donna M; Emanuel, Beverly S et al. (2018) Molecular genetics of 22q11.2 deletion syndrome. Am J Med Genet A 176:2070-2081
Guo, Tingwei; Diacou, Alexander; Nomaru, Hiroko et al. (2018) Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2. Hum Mol Genet 27:1150-1163
Grand, Katheryn; Levitt Katz, Lorraine E; Crowley, T Blaine et al. (2018) The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome. Am J Med Genet A 176:2167-2171
Hasten, Erica; McDonald-McGinn, Donna M; Crowley, Terrence B et al. (2018) Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome. Hum Mol Genet 27:1847-1857
Lopez-Rivera, Esther; Liu, Yangfan P; Verbitsky, Miguel et al. (2017) Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med 376:742-754
Guo, Tingwei; Repetto, Gabriela M; McDonald McGinn, Donna M et al. (2017) Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circ Cardiovasc Genet 10:
Racedo, Silvia E; Hasten, Erica; Lin, Mingyan et al. (2017) Reduced dosage of ?-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome. PLoS Genet 13:e1006687
Kruszka, Paul; Addissie, Yonit A; McGinn, Daniel E et al. (2017) 22q11.2 deletion syndrome in diverse populations. Am J Med Genet A 173:879-888

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