Gerton Lab receives CdLS funding and accolades

Senior Research Associate Baoshan Xu, PhD, has received a grant from the Cornelia de Lange Syndrome Foundation for his research aimed at understanding how defective protein formation contributes to the cause of the Cornelia de Lange Syndrome (CdLS), a developmental disorder characterized by a host of physical and cognitive abnormalities.

Previous studies from the Gerton Lab suggested that L-leucine, an amino acid that stimulates an important molecular signaling pathway as well as the process of protein formation called translation, may be a potential therapeutic for CdLS. Using zebrafish models of CdLS, they have shown that L-leucine treatment reduces improper cell division and cell death, partially rescuing the developmental defects of the CdLS zebrafish embryos.

Xu plans to examine and measure the effect of L-leucine in tissue derived from CdLS patients with the four common genetic mutations associated with the disorder to determine if and how different gene mutations respond to L-leucine. This study will serve as the basis for assessing the potential for L-leucine to be used as a therapy for CdLS.

It is this innovative experimental work of the Gerton Lab, led by Investigator Jennifer Gerton, PhD, that has earned Gerton and the Stowers Institute recognition as one of the CdLS Centers for Excellence. This designation is awarded to researchers and institutions pursuing research that provides significant scientific contributions to further understanding CdLS, commits to furthering scientific knowledge through collaborations, and shares that knowledge openly with other researchers.