Neurogenetics | CHOP Research Institute
 

Neurogenetics

CureARS, Pigment Production, TBCK

Published on
Oct 14, 2022
in Cornerstone Blog
In the News
Read the latest findings and new grants from Children’s Hospital of Philadelphia researchers.

Love of Science ‘Important, Exciting, and Beautiful’: Q&A With Ethan Goldberg, MD, PhD

Published on
Jul 25, 2022
in Cornerstone Blog
Q&A With Ethan Goldberg, MD, PhD
Dr. Goldberg studies how genetic variation in ion channels leads to underlying brain circuit dysfunction in epilepsy and other disorders.

Pediatric Neurodegenerative Biorepository

The purpose of this study is to create a biorepository to support our ongoing and future studies on ultra-rare pediatric neurodegenerative disorders.

Faculty Spotlight: Naiara Akizu Lopez, PhD, Merges Research Passions

Published on
Aug 31, 2021
in Cornerstone Blog
Naiara Akizu Lopez, PhD, Merges Research Passions
Our August Faculty Spotlight scientist, Naiara Akizu Lopez, PhD, studies the genetic and epigenetic mechanisms of neurologic disorders in children.

Faculty Spotlight: ‘Bench to Bedside and Back’ With Rebecca Ahrens-Nicklas, MD, PhD

Published on
May 10, 2021
in Cornerstone Blog
Faculty Spotlight: ‘Bench to Bedside and Back’ With Rebecca Ahrens-Nicklas, MD, PhD
Meet our featured Faculty Spotlight scientist for May, Rebecca Ahrens-Nicklas, MD, PhD, assistant professor of Pediatrics at CHOP.

Ortiz-Gonzalez Laboratory

Ortiz-Gonzalez Lab

The Ortiz-Gonzalez Lab investigates whether mitochondrial dysfunction is a common, underlying factor in rare pediatric neurodegenerative disorders.

Goldberg Laboratory

Goldberg Lab

The Goldberg Lab Investigates mechanisms of cerebral cortical circuit function and circuit dysfunction in neurodevelopmental disorders

Akizu Laboratory

Akizu Lab

Research in the Akizu Lab aims to better understand human brain complexity in health and disease, with the ultimate goal of uncovering therapeutic targets for pediatric neurodegenerative disorders.

Ahrens-Nicklas Laboratory

Ahrens-Nicklas Lab

The Ahrens-Nicklas lab combines translational studies in patients with molecular, biochemical, and electrophysiologic studies working with animal models to develop novel therapies for rare inherited pediatric disorders.

ENGIN Frontier Program on a Precision Path to Epilepsy Treatment

Published on
Feb 7, 2020
in Cornerstone Blog
ENGIN Team
The Epilepsy NeuroGenetics Initiative is bridging the gap between advances in genetic discovery and improvements in treatment.