Structural Brain Defects Program Core

In addition to the three Cores, a number of collaborative agreements have been established to support this project.

Project I has obtained an agreement from several local or statewide institutions In support of this project:

  1. Rady Children's Hospital has agreed to provide bioinformatics support to Identify SBD patients appropriate for study, in both retrospective and prospective fashions, as well as support for patient consenting and phlebotomy. These will be identified from inpatient and outpatient records as well as from the network of newborn nurseries (the largest in San Diego).
  2. Kaiser Permanente Southern California has agreed to provide bioinformatic support to identify SBD patients from their entire patient population of over 3 million individuals in Southern California, using database personnel at a rate of $50/hr.
  3. The California Birth Defects Monitoring Program (CBDMP), which maintains Guthrie newborn bloodspot cards on nearly all Infants born In California since 1986, has agreed to search their entire database of medical records (updated with birth defects noted by 1 year of age), consisting of 10-15 million individuals, and provide blood spots for our study at a cost of $24/ea. For these nominal fees, we will be able to take advantage of these exciting and extremely diverse resources of SBD patients.

Project II has obtained agreements from:

  1. Professor Bruce Beutler at The Sripps Research Institute, who oversees the Mutagenetix ENU mouse mutagenesis project, to provide all founder lines with SBDs. This is an Invaluable resource, built upon a decade of experience with mutagenesis and phenotyping.
  2. The Director of the Dorris Neuroscience Center at TSRI, Dr. Mueller, to take advantage of a vast array of promoter- specific tetracycline-regulated Cre lines.

Project III has obtained agreements from:

  1. Dr. Cecelia Moens at the Fred Hutchins Cancer Center at University of Washington to identify zebrafish lines with mutations In specific SBD genes. Although this Is already a free service, the contribution of these germline mutant lines, and the ability to help prioritize their generation, will be Important validation for the planned morpholino experiments.
  2. Dr. Herwig Baier has agreed to provide a vast array of neural specific GAL4 driver lines as well as UAS reporter lines Including, UAS:mGFP and UAS:Kaeda . The combination of these tools will permit the detailed cell morphologic and migration analysis of specific neural cell subtypes and photoconvertlon of specific neural cell subpopulations from green to red, allowing for cell lineage and time-lapse studies during zebrafish neuronal development.

Core 8 has obtained agreements from Agilent, Inc, to provide both the beta-version (next generation) of whole exome library reagents for human, as well as the as-yet-unreleased versions for both mouse and zebrafish.

These collaborative agreements between well-known and critical partners will help ensure the success of the individual components as well as the overall goals of the program.