Laura Reinholdt


  • University of Connecticut, Department of Molecular and Cellular Biology, 2001, Ph.D. in Genetics
  • Post-Doctoral Fellowship in Drs. John Schimenti and Mary Ann Handel’s laboratories

Brief Biography

Broadly, Dr. Reinholdt’s research interests are in the development and application of genetic approaches for understanding the etiology of genome variation and for understanding the role of genome variation in health and disease.

Dr. Reinholdt’s interests in the role of genetic variation in disease led her to focus her research efforts on an exceptional resource of laboratory mouse strains with proven Mendelian disorders with unknown genetic etiology, strains stewarded by the Mouse Mutant Resource at The Jackson Laboratory for over 50 years. Taking advantage of this resource, her laboratory was one of the first to apply exome sequencing at scale for the discovery of naturally occurring genetic variants (mutations) that cause Mendelian disease in mice. Her laboratory is now focusing on the significant proportion of mutations that escape detection by exome sequencing to further understand the nature of these mutations and to improve computational approaches mutation discovery. Using reverse genetic approaches, Dr. Reinholdt’s laboratory is also working closely with the human genetics community to create new strains of mice carrying human Mendelian disease mutations.

Heritable genetic variation is the result of genome instability during germ cell development, instability that arises through mutation, chromosome rearrangement or chromosome mis-segregation during mitosis or meiosis. Germ cells employ a variety of mechanisms to counteract these destabilizing events and these mechanisms can ultimately result in developmental arrest and cell death. However, these mechanisms are still poorly understood and when they fail, aneuploidy and infertility result. Dr. Reinholdt’s post-doctoral work on the discovery of genes required for normal germ line development and fertility led to the discovery that the germ line is exquisitely sensitive to mutations in components of the mitotic spindle that have the potential to lead to aneuploidy. This sensitivity may also extend to embryonic and adult stem cells. Dr. Reinholdt’s laboratory have gone on to show that the sensitivity of the germ line genome instability differs across inbred strains of mice, offering a unique opportunity to use systems genetics approaches to discover the underlying pathways governing cell division and survival across a variety of cell types.

We are interested in the development and application of both forward and reverse genetic approaches for understanding the etiology of genome variation and it’s role in health and disease.

Selected Publications