 |
|
|
 |
|
Mark F. Leppert, Ph.D.
|
|
| |
Chief Science Advisor, LineaGen
Co-Chair of Human Genetics, University of Utah |
| |
|
| |
Dr. Leppert has had a seminal influence on the study of human genetics by virtue of his original contributions to polymorphism reference maps currently in worldwide use in human gene identification and mapping. In his laboratory, Dr. Leppert has mapped and identified monogenic disease traits responsible for human epilepsies and macular degeneration. In collaborative efforts, he has identified numerous other genes that contribute to human diseases. He has introduced many clinician-scientists to gene mapping and identification and continues to regard the mentoring of young investigators as one of his most valuable roles. |
| |
|
|
| |
Dr. Leppert's work was pivotal in the development of the first tools used for human gene mapping. Dr. Leppert led the ascertainment and recruitment of forty-seven large Utah families that formed the bulk of the reference DNA (housed at the Centre d'Etude du Polymorphisme Humain (CEPH) in Paris, France) used in the Human Genome Project and the International HapMap Project. In addition to his role in recruitment of the families, Dr. Leppert contributed to the creation of the genetic reference maps developed from this DNA and later served as critical maps for the success of the Human Genome Project. |
|
| |
|
|
| |
Dr. Leppert's work in the late 1980s led to the first report of linkage of a mutant gene to a large family with seizures. This approach to gene discovery was highly innovative, and ultimately led to the identification of epilepsy genes in his laboratory. He has since identified genes responsible for several forms of macular degeneration and a variety of other disease genes. Dr. Leppert has also made important contributions to the advancement of cancer genetics and to our understanding of genes that, when mutant, predispose to cardiovascular risks. |
|
| |
|
|
|
|
|
|
|
|
|