PEN[N=1]

This program is focused on advancing individualized genetic medicine approaches for patients with ultra-rare neurologic diseases. Bringing together clinicians, researchers, genetic counselors, and translational experts across Penn and CHOP, the program explores pathways for developing personalized N=1 therapies, including emerging gene-targeted technologies.

PEN[N=1] is collaboratively evaluating infrastructure needs and potential candidate programs for future therapeutic development. Additional information and program updates will be shared as the initiative evolves.

If you or a family member has been diagnosed with an ultra-rare neurogenetic disease and you are interested in learning more about an individualized therapeutic strategy, please contact us at NeurogeneticsTherapyCenter@pennmedicine.upenn.edu.

At present, we are in the early stages of developing a registry that will facilitate enumeration of interested patients, establishment of a biobank of samples and cell lines, and collaboration for therapeutic development.

Our PEN[N=1] webpage is currently under development.