Human Genetics | CHOP Research Institute
 

Human Genetics

Leigh Syndrome Natural History Study

The Children's Hospital of Philadelphia is conducting a Natural History Study in Leigh Syndrome.

Progression of SMA

Progression of SMA

The purpose of this study is to collect data from routine standard of care visits of SMA patients at the Children's Hospital of Philadelphia Neuromuscular Clinic.

Yi Xing, PhD
Yi Xing

Dr. Xing is the Executive Director of the Department of Biomedical and Health Informatics, the Francis West Lewis Chair and director of the Center for Computational and Genomic Medicine at CHOP, and professor of Pathology and Laboratory Medicine at the University of Pennsylvania. His research focuses on computational biology and genomics of RNA processing and regulation.

E-mail:
xingyi [at] chop.edu

Pediatric Academic Societies Meeting Packed With Discovery and Discussion

Published on
May 4, 2018
in Cornerstone Blog
CHOP Research In the News
Check out a preview of some of the novel research our clinical and scientific experts are presenting at the Pediatric Academic Societies Meeting.

Tiny Mitochondria Play Outsized Role in Human Evolution and Disease

Published on
Nov 4, 2015
in Cornerstone Blog
Mitochondria are not only the power plants of our cells; these tiny structures also play a central role in our physiology. Furthermore, by enabling flexible physiological responses to new environments, mitochondria have helped humans and other mammals to adapt and evolve throughout the history of life on earth.