Awardee OrganizationUNIVERSITY OF ALABAMA AT BIRMINGHAM
Description
Abstract Text
ABSTRACT (COORDINATION SECTION)
The vision for the UAB Pilot Center for Precision Animal Modeling (C-PAM) is to become a national
resource to efficiently and cost-effectively analyze pathogenicity of gene variants identified in patients with rare
disorders and to produce variant-specific models to pursue disease mechanisms and targeted therapeutics.
Many potential disease-causing variants are being identified in patients due to the availability of whole genome
sequencing technologies. The pace of identifying variants is now far outpacing the ability for individual labs to
confirm their pathogenicity. Following identification, these variants require assessment and annotation to
separate variants of no impact and simple sequencing and mapping errors from those that are causative of the
disease. This is a complex problem to address requiring interdisciplinary approaches and a concerted effort to
evaluate the variant. Part of this effort is to generate and analyze informative animal models. C-PAM has
assembled a team of highly collaborative individuals with expertise in basic science, computational and data
sciences, human genetics, clinical diagnosis, and animal model generation to tackle this problem. The C-PAM
team has established a pipeline in which community nominated variants will be thorough analyzed using an
innovative bioinformatic toolkit generated by the C-PAM Bioinformatics Section. If selected, the variant will be
modeled in animals by the C-PAM Disease Modeling Unit. These new models will be evaluated for human
disease relevance by the C-PAM Pre/Co-clinical Section. Once generated, C-PAM will facilitate the formation of
expert collaborations to utilize the detailed informatic analyses and the animal resource that will be distributed
through the C-PAM Resource and Services Section to advance our understanding of disease pathogenesis, to
ascertain efficacy of novel or repurposed therapeutics, and to contribute to improved human health. For C-PAM
to work efficiently and achieve its goals, the efforts of each component in the Center must be coordinated. This
is the job of the C-PAM Coordination Section (CS) that will provide the overall organizational structure for the
Center. It will synchronize the activity of each of the C-PAM components and provide management,
administrative support, and leadership to ensure C-PAM components are working toward a common set of
objectives. The CS will assemble oversight committees to prioritize nominated variants, to select animal models
for generation, to evaluate the performance and impact of C-PAM, and to make strategic plans for the Center to
fulfill its vision.
No Sub Projects information available for 5U54OD030167-03 5340
Publications
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Outcomes
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