Background

The Bone and Extracellular Matrix Branch of NICHD conducts translational research on genetic disorders of bone. Our interest is in understanding the biochemical and molecular mechanisms by which defects in components of matrix cause bone disease, and then in applying this information for the care of our pediatric patients.


Potential Projects

We are seeking to fill a postdoctoral position employing murine models of genetic bone disease. The fellow will use the murine model previously generated in our lab, the Brtl knock-in mouse for osteogenesis imperfecta (OI), as well as lead generation of novel transgenic and knock-in mice. Potential projects involve both dominant and newly defined recessive OI:

1. Development of knock-in murine models for recessive OI, recently delineated in our lab (NEJM 355:2757; Nat Genet 39:359), and investigation of bone disease mechanism;
2. Investigation of mechanism of bone quality improvement by homozygosity for a dominant collagen mutation;
3. Modeling novel approaches to OI therapy, (a) gene therapy of OI by hammerhead ribozymes specific for Brtl mutation (involves in vitro RNA studies and tissue culture, plus mouse studies), and (b) administration of chemical chaperones.

To apply:

The NICHD was initially established to investigate the broad aspects of human development as a means of understanding developmental disabilities, including mental retardation, and the events that occur during pregnancy. Today, the Institute conducts and supports research on all stages of human development, from preconception to adulthood, to better understand the health of children, adults, families, and communities.