The objective of this research is to conduct and evaluate a pilot program for the simultaneous screening of carriers for CF, Tay Sachs Disease (TSD) and Gaucher's Disease (GD) in the Ashkenazi Jewish population. This ethnic group is unique since 95 percent of CF and GD carriers can be detected, providing the rationale to introduce CF and GD screening in conjunction with TSD carrier screening programs.

This project proposes to create a new research training program in genetics for students, researchers, and professionals from the developing country, People's Republic of China. This collaborative program will be developed between The Johns Hopkins University and two major institutions in Beijing, Peking Union Medical College and Peking University. This program will train researchers in the principles of genetic research on complex disorders such as birth defects and chronic diseases.

This is a competing renewal to continue our investigations of the use of molecular cytogenetic testing by array copy number analysis in prenatal diagnostic testing. We have completed a prospective blinded comparison of copy number analysis (aCNA) with standard conventional karyotyping in 4400 unselected prenatal diagnostic tests. Our work demonstrates that aCNA identifies all pathologic findings seen by karyotyping and provides significant incremental information in 2% of all patients tested.

Rapid advancements in genetic technology, the popularity and coverage of genetics by the press, and the increased understanding of the role genetics plays in our health necessitates a basic understanding of the science for everyone. In spite of this increased exposure to genetics, a study by Bowling (2008) indicated that the public's genetics literacy remains relatively low. Studies looking specifically at the genetics knowledge of students in grades K-12 also show low levels of understanding.