Mentor: Mark Charlton-Perkins, Ph.D.

Neurofibromatosis type 1, or NF1, affects 1 in 3,000 children, causing unregulated cell growth in the nervous system from an early age. NF1 generates two major types of tumors: optic pathway gliomas (OPGs) and plexiform neurofibromas (PNFs). Both can cause pain and disfigurement in patients, and are often impacted by other mutated genes. APC, another important cell cycle regulator, has been shown to be one of these genes, causing a higher proportion of PNFs than NF1 alone.

Through a systematic series of genetic knockdowns and knockouts, we have engineered a population of zebrafish with both the NF1 and APC mutations. We study the tumor load in these animals with two primary methods-- dissection and cryosectioning. Spinal dissections have proven especially useful for studying NF1/APC-associated PNFs. Our novel methods let us take a closer look at how the two genes interact, combining the detail of sectioning with the efficiency of a typical body dissection.

Every detail matters when patients are involved, and we are excited to pursue this understanding-- and one day, a cure.

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