Topics

Advances in technology have led to the availability of genetic testing for a wide range of conditions for healthy or high-risk newborns. It is expected that the funds spent on genetic testing in the…

Despite the vast diversity of its populations, genetic studies in Africa have been limited. African populations, Malians in particular, have a high rate of intra-ethnic and consanguineous marriage,…

This research project will offer genetic testing to approximately 400 adult men and women who belong to a large kindred which has been found to have markers on chromosome 17q that are tightly linked…

The primary objective of this study, first begun in 1999, is to compare newborn identification by expanded screening to clinical identification in children with biochemical genetic disorders in terms…

The overall objective of the proposed research is to study the ethical, legal, and social implications of drug responsive genetic variations, especially where significant differences have been found…

Genomic research is rapidly expanding our knowledge about the genetic contributors to health and disease. A broad range of health benefits will flow from this research, including tests to predict…

This project will study the role of patient preferences and other factors in choices regarding use of prenatal screening for and diagnosis of chromosomal disorders in a racially/ethnically diverse…

This is a multi-site randomized study comparing standard genetic counseling (GC) to an enhanced consent-based (EC) model. The investigators will compare the effects of the two interventions on…

Although cystic fibrosis (CF) is the most common, life threatening autosomal recessive genetic disorder of the white population, there are often delays in diagnosis and hence initiation of treatment…

"Personalized genomic medicine" (PGM) is being promoted as a "new paradigm for health care" and a major goal for translational genomic research (TGR). In addition to overcoming…