Nonhuman Primate New Model Development Working Group

The New Model Development Working Group within the NPRC Consortium was established to provide a forum for discussion and collaboration among NPRCs in the discovery and characterization of nonhuman primate genetic models of human disease. The group leverages large-scale genome sequence variant analysis, combined with clinical, behavioral and pathological phenotype analysis to identify novel disease models. Collaborative studies within and between NPRCs enhance opportunities to characterize and to expand model populations for pre- clinical research needs.

NHP Genetic Model Resources

Macaque Genotype and Phenotype Database
Macaque Genotype and Phenotype Database (https://mgap.ohsu.edu/) is an NIH -supported resource with genomic and phenotypic data generated from rhesus macaques located at the National Primate Research Centers. This new resource currently includes more than 50 million rhesus macaque variants, with an associated broad array of variant annotations including predicted effects on protein function, allele conservation across species, identity with reported human ClinVar variants, allele frequency and links to animal-specific genotype data. Predicted traits associated with the macaque variants are accessible through direct linkage to the Online Mendelian Inheritance in Man (https://omim.org/), an online catalog of human genes and inherited disorders.

Identified NHP Genetic Models Numerous natural genetics models of human disease have been identified in recent years, including genetic models of blindness, neurodegenerative disease, leukodystrophies, kidney dysfunction, cancer, endometriosis, and more. Additional novel models are being discovered and characterized all the time. If you have interest in exploring current or potential new NHP models, please review the latest publications and reports of macaque genetic models or contact a NPRC member to discuss additional models of interest.

Publications on Use of NHP Genetics Models Aleman et al., Bardet-Biedl Syndrome 7 (BBS7) Shows Treatment Potential and a cone-rod syndrome phenotype that recapitulates the non-human primate model. Opthalmic Gen, 2021. PMID 33729075.

Coming soon: NHP Genetic Model Embryo Bank Resource

For more information regarding NPRC New Model Development resources, please contact support@nhprc.org.