Faculty Scholars
Miriam K. Konkel, M.D.
College of Science
Contact: 864-656-3346 or mkonkel@clemson.edu
Who is Dr. Konkel?
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, also commonly referred to as jumping genes. 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.
For more information, see her college profile.
How Dr. Konkel’s research is transforming health care
While single nucleotide variants (SNVs) are the most common variants in the human genome, structural variation impact a larger fraction of the genome than SNVs. Transposable elements can cause disease through insertion, and have been found to be the cause of numerous genetic disorders ranging from X-linked hemophilia to neurofibromatosis, and even cancer. Even after the insertion of transposable elements, they can contribute to disease. For example, transposable elements are often found at breakpoints of deletions and (to a lesser extent) duplications. For example, several BRCA1/2 deletions are caused by transposable element non-allelic recombination. Furthermore, there is emerging appreciation for the role of transposable elements in gene regulation. A better understanding of the impact of transposable elements in humans holds the potential for substantial future biomedical impact.
In the United States, more than 10% of infants are born prematurely. Reasons for preterm birth are manifold. Some are the result of medical intervention due to pregnancy complications; e.g. preeclampsia is one cause for inducing labor before term. Sometimes preterm birth occurs without known reason. 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. Konkel is interested in the genetic predisposition of preterm birth, preeclampsia, and stillbirth to identify women at risk during pregnancy to prevent adverse pregnancy outcomes.
Health Research Expertise Keywords
Structural variation, genomics, genetics, human computer interaction, mobile elements