Mouse and zebrafish vasculature. Credit: Jonathan Epstein, MD.
Neurofibromatosis type I (NF1), also known as von Recklinghausen disease, is one of the most common inherited genetic disorders in humans. Symptoms include curvature of the spine, skin spots, learning difficulties, epilepsy, as well as cardiovascular problems. Researchers led by Jonathan Epstein, MD, Chairman of Penn's Department of Cell and Developmental Biology and Scientific Director of the Penn Cardiovascular Institute, developed a zebrafish model for NF1, which will advance the ability to perform high-throughput chemical screening for new compounds that may one day become treatments. They recently published their findings in the Proceedings of the National Academy of Sciences.
Because zebrafish develop rapidly, are transparent when young, and can be easily bred in large numbers, this new animal model will dramatically increase the screening capacity, notes Epstein. In addition, scientists will be able to identify other genes and molecular pathways that affect disease progression by performing genetic screens in the model. These discoveries will provide new opportunities for drug development for NF1.
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