Advancing the future of neurogenetic medicine through the development of novel therapeutics.
Translational Research
From Bench to Bedside
The PNTC partners with researchers across CHOP and Penn to develop and advance novel therapeutics for neurogenetic diseases. Our goal is to translate discoveries from our researchers into meaningful therapies that improve patients’ lives.
To support this mission, PNTC Translational Research Lead, Dr. Defne Amado, has launched two key programs:
Penn ALS Program
The program brings together clinicians and researchers to foster collaboration and knowledge sharing to advance therapeutic development and clinical care for patients with ALS.
Penn Neuroscience iPSC Group
This group is composed of researchers from CHOP and Penn to support protocol development and define best practices for the use of iPSC lines in translational research for neurogenetic diseases.
To support our researchers, we are investing in critical infrastucture, including:
Multielectrode Array (MEA) for genetic variant resolution and therapeutic development
iPSC biobank to study disease pathomechanisms and test therapeutics
Software for RNA therapy design
Genetic Medicine Platform
We are also developing a Genetic Medicine Platform under our PEN[N=1] program to create a more coordinated and efficient path for advancing new therapies. This platform brings together every stage of the process, from translational research to patient identification, clinical trials, and clinical implementation.
To learn more about our PEN[N=1] program, click here.
Our Scientists
PNTC proudly supports the labs of James Dowling, MD, PhD and Defne Amado, MD, PhD. To learn more, please visit their lab websites:
Dowling Lab
Amado Lab
Our Collaborators
A wide range of translational research is being conducted across Penn and CHOP. To learn more about our collaborators and their work, please visit their lab websites: