Children and adults with NF1 can develop a wide variety of clinical features, including brain and nerve tumors. While small animal models of NF1 have been successfully generated in flies and mice, none of these animals display the spectrum of clinical problems found in people with NF1.
Spearheaded by Dr. Adrienne Watson of Recombinetics, Inc. and Dr. David Largaespada at the University of Minnesota, a novel swine model of NF1 was recently developed. These minipigs exhibits many of the clinical hallmarks of NF1, including café au lait macules, neurofibromas, and optic pathway glioma. In contrast to previously reported Nf1 mouse models, these animals spontaneously develop these features, similar to people with NF1. In this regard, this minipig platform provides an unprecedented opportunity to study the complex biology and natural history of NF1. Moreover, deployment of these NF1 swine could prove indispensable for the development of advanced imaging methods and disease biomarkers, as well as the evaluation of future NF1 targeted therapies.
This work was published in Communications Biology.
Funded through The Children’s Tumor Foundation Synodos Program.
Isakson SH, Rizzardi AE, Coutts AW, Carlson DF, Kirstein MN, Fisher J, Vitte J, Williams KB, Pluhar GE, Dahiya S, Widemann BC, Dombi E, Rizvi T, Ratner N, Messiaen L, Stemmer-Rachamimov AO, Fahrenkrug SC, Gutmann DH, Giovannini M, Moertel CL, Largaespada DA, Watson AL. Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. Commun Biol. 2018 Oct 2;1:158. doi: 10.1038/s42003-018-0163-y. eCollection 2018.