About CPNDR

The Center for Pediatric Neurological Disease Research (CPNDR) is tasked with advancing basic research investigating complex, pressing questions relating to pediatric neurological diseases. CPNDR stands as a fundamental pillar of the PTNI, upstream to the efforts of the Center for Experimental Neurotherapeutics (CENT). CPNDR is the source of discovery –  identifying what genes are involved in disease pathogenesis, what function those genes serve, how mutation in those genes drives disease, and whether we can model these mutations for preclinical evaluation. CPNDR serves as an anchor program with a critical mass of investigator-driven research programs sharing physical proximity and access to specialized resources. CPNDR and CENT engage in bidirectional translational efforts, shepherding molecular clues to therapeutic investigation, and sourcing clinical observations to inform basic research. 

CPNDR faculty take their research cues from pediatric neurological diseases, directing programs intended to discover, define, and alter these disorders. 

The Center for Pediatric Neurological Disease Research (CPNDR)

Research
Programs

Peter McKinnon, PhD

Genome instability is directly connected to a myriad of diseases, either as a primary cause or a cofounding secondary event, and in many neurodevelopmental disorders and later onset neurodegenerative events. Our laboratory strives to understand the disease etiology of DNA damage and genome maintenance pathways, and the relationship to chromatin structure and regulation. We are also interested in deciphering cell type specificity and genome stability as it relates to neurological disease pathogenesis. 


Heather Mefford, MD, PhD

Seizures that begin in the first weeks to years of a child’s life can be difficult to treat and are associated with poor developmental outcomes, developmental delays, intellectual disability, and autism spectrum disorder. Our laboratory is focused on investigating the genetic basis of rare forms of epilepsy and associated neurodevelopmental disorders. Our goal is to identify novel mutations and determine their molecular and functional implications to help inform precision therapeutic development.


Andrew Kodani, PhD

The genetic mutations that drive many rare neurodevelopmental disorders are still unknown. Our laboratory addresses the critical gap between mutation, mechanism, and clinical care by employing cellular biology and –omics-based approaches. Our discovery of novel mutations, and subsequent molecular and functional characterization, will ultimately help define pathogenesis and inform therapeutic advances for catastrophic pediatric neurological diseases.