Recombinetics announced the development of the first-of-their-kind gene-edited swine models for Neurofibromatosis Type 1 (NF1). Partially funded by the Children’s Tumor Foundation, and in collaboration with the University of Minnesota, these models are for use in preclinical safety and efficacy testing of therapeutics for this debilitating genetic disease affecting 1 in 3,000 people. Developed by RCI’s biomedicine subsidiary, Surrogen, using RCI’s patented and licensed technologies, scientists are able to engineer exact human NF1 disease mutations into swine, an animal increasingly preferred for biomedical research due to their substantial physiologic and genetic homology with humans.

Current animal models of NF1 do not always recapitulate the disease spectrum seen in patients some NF manifestations are particularly difficult to study in rodents due to their small size. The development of swine models, which are similar in size to children, will greatly improve the development and selection of treatments most relevant to patients.

The Surrogen swine models of NF1 are showing many of the phenotypes seen in human NF1 patients, including café au lait spots, a diagnostic criteria for NF1 patients, never before seen in animal models. Surrogen models make it possible to perform the robust examinations of biomarkers needed for early disease detection, to develop better imaging procedures to understand and detect tumor growth, and metastasis, and to identify safe and effective drug targets through pharmacology and toxicology studies.

“We’re motivated to bring better treatments for NF1 patients living with this devastating disease,” said Recombinetics Senior Scientist and project lead, Dr. Adrienne Watson. “New therapies and pharmaceuticals that are currently in clinical trials are being tested to evaluate their safety and efficacy in multiple organ-systems in hopes of finding a cure for NF1. If successful, our NF1 swine models will give physicians and researchers ways to study this disease in ways not possible with current animal models.”

The collaborative, milestone-driven consortium project (Synodos for NF1) that allows the development of these models is funded and managed by the Children’s Tumor Foundation, a leading organization dedicated to finding effective treatments for the millions of people worldwide living with NF. In addition to recruiting a collaborative dream team of researchers and clinicians to accelerate the path of treatment options, every Synodos project is committed to sharing all raw data openly with the team through the Sage Bionetworks data hub.

Said Annette Bakker, Ph.D., the Children’s Tumor Foundation President and Chief Scientific Officer, “The Children’s Tumor Foundation is more determined than ever to fund and manage innovative projects that will identify effective and tolerable treatments for NF. Surrogen’s NF1 swine models will provide a new way to gather stronger date and expedite answers from the research lab to benefit NF patients.”

Dr. Watson’s NF1 swine model data will be presented at the Children Tumor Foundation Annual NF Conference in Washington, DC, June 10-13th.