Funded Research

Structural Chromosomal Variants in Children with Congenital Anomalies
Principal Investigator(s):
  • Robert Heuckeroth, M.D., Ph.D. Pediatrics Visit Website
  • Thomas Morgan, M.D. Pediatrics
  • Congenital Heart Disease Center
Award Mechanism:
Core Large Initiative
Project Period:
4/15/2007 - 4/14/2011
Total Amount:
Seth Crosby, Patrick Y. Jay, Shashikant Kulkarni, Tasnim Najaf, Louis Muglia, F. Sessions Cole
Genomic arrays, commonly referred to as chips, have been recently developed that can detect changes in the copy number of specific parts of the genome. The ability to reproducibly demonstrate aberrations in the number of copies of a given gene present in an individual provides a unique opportunity to assess this process as a disease mechanism for congenital birth defects. In this Core we will leverage our access to large samples of DNA from structural birth defect registries, the technical and informatics capabilities of the Human Genome Center and the Center for Genome Science and the genetics expertise of the Division of Genetics & Genomic Medicine to examine individual variation in copy number as causative for specific congenital heart defects and musculoskeletal disorders.