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 pat