Identification and functional characterization of the genetic variant causing Kufs’ disease with early dementia in a family with an autosomal dominant inheritance

2010 Pilot Project Read More

Investigators

Principal Investigator: Carlos Cruchaga, PhD (WUSTL Psychiatry)
Co-investigator: Mark Sands, PhD (WUSTL Internal Medicine)

Description

In this project the investigators try to identify the genetic cause of a rare early-onset dementia disease in a family. This disease is characterized by gradual onset, progressive course, and deficits in episodic memory, executive function, and visuospatial abilities. The hereditability pattern of the disease suggests that the disease is caused by a genetic mutation. Dr. Cruchaga and Dr. Sands plan to take advantage of the last sequencing technologies to identify the genetic cause of the disease. Then, they will generate cellular models to understand the pathogenic mechanism implicated in this disease. This project will allow the development of genetic test and the identification of potential therapeutic targets.

Publications

Benitez B, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C. Exome-sequencing confirms DNAJC5 mutations as cause of Adult Neuronal Ceroid-Lipofuscinosis (2011). PLoS One, 6(11):e26741

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Hope Center Investigators

Carlos Cruchaga

Mark Sands

Support

This pilot project is made possible by the Danforth Foundation Challenge.

Danforth Challenge