Michael Hebert, PhD
Our work centers upon understanding the functional organization of the nucleus. In particular, we are interested in understanding how certain human diseases alter nuclear efficiency. The nucleus contains a myriad of dynamic, highly organized domains, territories and bodies. All of these structures somehow work together; seamlessly allowing important nuclear activities, such as RNA synthesis and processing, to occur in an efficient manner. In certain disease states, the organization of the nucleus is altered.
We hypothesize that diseases which disrupt the functional organization of the nucleus adversely affect ribonucleoprotein maturation. The ribonucleoproteins we investigate are small nuclear ribonucleoproteins (snRNPs), small Cajal body-specific ribonucleoproteins (scaRNPs) and telomerase. The biogenesis of these ribonucleoproteins is altered in the genetic diseases spinal muscular atrophy and dyskeratosis congenita. Furthermore, the transformation of a normal cell into a cancer cell results in the upregulation of these ribonucleoproteins and subsequent changes in the organization of the nucleus. The goal of our work is to clarify the mechanisms by which these and other diseases impact subnuclear organization and function.
The following organizations have supported our work: Muscular Dystrophy Association, National Ataxia Foundation, Friedreich's Ataxia Research Alliance, Luckyday Foundation and the National Institutes of Health.