BMP signaling in DiGeorge syndrome mouse models

Doctor's Name: 
Emmanuele Delot, MD
Hospital/Institution: 
Univ. of California Los Angeles

Dr. Delot and colleagues have developed a mouse model of the DiGeorge syndrome. DiGeorge syndrome is an increasingly recognized syndrome that affects many patients with congenital heart disease. The DiGeorge syndrome is frequently associated with patients with tetralogy of Fallot, interrupted aortic arch and other conal truncal defects.

The most frequent cause of DiGeorge sundrome is the deletion of various lengths of genetic material in the 22q11 region of the genome. The investigators have identified the chordin knock-out mouse model which mimics many aspects of DiGeorge syndrome phenotype. The authors propose to clarify the relationship between chordin and Tblx, a gene located in the common deletion of most DiGeorge patients.

The investigators will identify which of the genes of the 22q11 region are under control of the chordin pathway. This will allows them to create a map of the network of the interacting pathways responsible for controlling the development of the heart in those mice. This should increase our understanding of the multiple complex abnormalities that can occur in children with DiGeorge syndrome.

Award Date 1: 
2004
Award Amount 1: 
$70,000
Award Date 2: 
2005
Award Amount 2: 
$70,000