February 2, 2016
Congratulations to Sam Sondalle! Today he was awarded the Ruth L. Kirschstein National Research Service Award (NRSA) Individual Predoctoral MD/PhD Degree Fellowship (F30) from the National Institute of Diabetes and Digestive and Kidney Diseases. His proposal is titled “PROBING THE PATHOGENESIS OF NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS (NAIC),” which seeks to understand how the R565W mutation in UTP4 causes NAIC. Because UTP4 is an small subunit processome protein required for ribosome biogenesis, Sam hypothesizes that the disease-causing mutation negatively impacts ribosome production.
For more information on NAIC and other ribosomopathies check out the following publications from the Baserga lab:
- Mysterious Ribosomopathies (http://science.sciencemag.org/content/341/6148/849.full)
- Human diseases of the SSU processome (https://doi.org/10.1016/j.bbadis.2013.11.004)
- NOL11, Implicated in the Pathogenesis of North American Indian Childhood Cirrhosis, Is Required for Pre-rRNA Transcription and Processing (https://doi.org/10.1371/journal.pgen.1002892)