About
Miriam Konkel is an Assistant Professor in Clemson University’s Department of Genetics & Biochemistry. She is also affiliated with the Center of Human Genetics. During medical school she investigated host-pathogen interactions of HIV. Her postdoctoral work centered on primate genomics (including humans) with focus on mobile elements. Her particular focus centered on the impact of mobile elements on genomes and how mobile elements evolve in genomes. Over the last decade, Dr. Konkel has been a member of ten genome consortia and the Louisiana Healthy Aging Study. Here at Clemson, her research interests encompass utilizing both her scientific and medical expertise to extend toward the impact of structural variation in health and disease.
Visit Dr. Konkel's Faculty Profile.
How their research is transforming health care
Transposable elements can cause disease through insertion and have been found to be the cause of numerous genetic disorders such as X-linked hemophilia. Even after insertion, mobile elements can contribute to disease. For example, they are often found at breakpoints of deletions and duplications. Several BRCA1/2 deletions are caused by transposable element-mediated non-allelic recombination. Furthermore, transposable elements are implicated in gene regulation and contribute to transcriptome diversification. A better understanding of the impact of transposable elements in humans holds the potential for substantial future biomedical impact. Until recently, the complete structure of the Y chromosome could not be fully resolved due to its composition and high repeat content. Only now are we able to appreciate human genetic diversity of the Y chromosome, which the Konkel lab is investigating. A better understanding of the Y chromosome will support GWAS studies, the investigation of infertility, and the role of Y chromosome loss. The latter has been associated with aging and heart disease. Lastly, Dr. Konkel is interested in identifying the genetic predisposition of preterm birth. While sometimes no cause can be established, preeclampsia is a known risk factor for preterm birth. A genetic predisposition seems to be present for about 2/5 of preterm births based on family and population genetic data. Moreover, there is now evidence that genetic variation in the same genes may be risk factors for preterm birth and preeclampsia. Identification of genetic risk factors for preterm birth, preeclampsia, and stillbirth will help to predict and prevent adverse pregnancy outcomes
Health Research Expertise Keywords
Structural variation, mobile elements, genomics, genetics, Y chromosome, exRNA,human computer interaction
