NEW YORK (GenomeWeb) – The National Institutes of Health has awarded a five-year $7.5 million grant to Bernice Morrow, director of translational genetics and chair of cardiology at Albert Einstein College of Medicine, and her collaborators at the Children's Hospital of Philadelphia, to study the genetics of congenital heart abnormalities.
Morrow's research focuses on a rare syndrome known as 22q.11.2 deletion syndrome, or DiGeorge syndrome, in which patients have a deletion in chromosome 22. About 60 percent of individuals with the syndrome also have congenital heart disease. The deletion also causes other severe abnormalities, including immune deficiencies, mild craniofacial deformities, and behavioral or intellectual disabilities.
Morrow and the CHOP researchers have formed the International 22q11.2 Consortium and the International 22q11.2 Brain Behavior Consortium to help spur research on the syndrome and increase access to patient samples.
"One of our major goals is to discover why some individuals with 22q11.2DS have severe disease while others have mild presentations," Morrow said in a statement. Morrow and collaborators at CHOP plan to use the grant funding to look for shared genetic risk factors in patients with the deletion syndrome and patients without the chromosome deletion but who have congenital heart disease.
Already, one gene within the 22q11.2 chromosome region — TBX1 — is known to play an important role in the physical abnormality symptoms of the disorder. DNA variations in other modifier genes may also play a role in congenital heart disease.
"We hope that this project will greatly expand our understanding of the genetic basis of congenital heart disease and lead to novel therapies and strategies for preventing these defects," Morrow said in the statement.