The 22q11.2 Society
www.22qsociety.org


Promoting research, diagnosis, prognosis, and management of 22q11.2DS & related disorders

Bernice Morrow

Bernice Morrow
Bernice Morrow
Bernice E. Morrow, Ph.D., is a professor in the Departments of Genetics, Obstetrics & Gynecology and Women's Health, and Pediatrics at the Albert Einstein College of Medicine in New York. She is also the Sidney L. and Miriam K. Olson Chair in Cardiology as well as the Director of the Division of Translational Genetics at the Department of Genetics at Einstein.

Bernice's lab has collected over 2,000 DNA samples from individuals with the 22q11.2 deletion syndrome (22q11.2DS) and some of their normal parents. The team have performed microarray and whole exome sequencing to identify genetic modifiers of the phenotype. A systems biology computational approach is being undertaken to integrate genotypes, known biological function of genes, exome sequence and copy number variation data to identify key genetic pathways downstream of the 22q11.2 deletion.

In order to determine function of genes identified from the human genetics projects, Bernice and her team are using the mouse as a model. Two key genes, Tbx1 and Crkl are being analyzed in mice to understand the molecular pathogenesis of cardiac, craniofacial and inner ear defects in mouse models of the disorder. They will cross mice with mutations of these genes and genes identified from the human genetics projects to identify genetic interactions.



Source: 22qsociety.org/advisors/content.asp?s=97&p=146&pv=1

The 22q11.2 Society Registered Charity No. 1165896