CHOP's Genome Center Contributes to Dementia Study

Published on in CHOP News

June 24, 2011 — The Center for Applied Genomics at CHOP contributed important scientific analysis to a recent international study of the rare brain disease progressive supranuclear palsy (PSP), published on June 19 in the journal Nature Genetics. In this article, genetics researchers reported that a genome-wide association study discovered new gene mutations that raise the risk of PSP and provides clues for potential treatment strategies for the currently untreatable disease.

The multicenter effort was the largest genetics study of this devastating neurodegenerative brain disorder, which causes abnormal movements similar to those seen in Parkinson’s disease. PSP is a form of frontotemporal dementia caused by an abnormal buildup of tau protein, which also plays a role in Alzheimer’s disease.

CHOP’s Center for Applied Genomics, directed by Hakon Hakonarson, MD, PhD, received a $580,000 grant from the CurePSP Foundation to perform DNA sequencing (genotyping) and analysis of thousands of DNA samples, and to compare them to control samples in the CAG’s database.

Leading the current study was senior author Gerard Schellenberg, PhD, of the Perelman School of Medicine at the University of Pennsylvania. Schellenberg said the research increases scientific knowledge of the underlying cause of PSP, and may also increase understanding of more common, related disorders such as Alzheimer’s disease. One of the newly identified genes affects how proteins fold, which can be toxic if it happens abnormally. Thus researchers may investigate ways to intervene in this process with a goal of treating PSP.

More information

For more details, see the Penn Health press release:


John Ascenzi, Children's Hospital of Philadelphia, 267-426-6055,