Innovative research earns Gerton a research grant from national nonprofit

The Cornelia de Lange Syndrome (CdLS) Foundation has selected Stowers Investigator Jennifer Gerton, PhD, as the recipient of a CdLS research grant. Gerton will use the funding to study Cornelia de Lange syndrome in a zebrafish model of the disease and to determine whether some developmental defects can be ameliorated through treatment with the amino acid L-leucine.

Cornelia de Lange syndrome is a developmental disorder that affects males and females equally across all human populations. Although the symptoms can range from mild to very severe, most affected individuals have similar physical characteristics: stunted growth; small hands and feet; thin eyebrows that meet in the middle; long eyelashes; upturned nose; and thin, downturned lips. Common medical problems include gastroesophageal reflux, bowel malrotation, hearing loss and congenital heart defects.

Gerton and her team recently linked a dampened growth signal to Roberts syndrome (RBS), a related condition that responded well to treatment with L-leucine in RBS zebrafish. “Both RBS and CdLS are caused by mutations that affect cohesin, although the molecular basis of CdLS is less well understood,” she says. “A logical next step was to determine whether our work on RBS has any relationship to CdLS.”

Founded in 1981, the Cornelia de Lange Syndrome Foundation is a national family support organization that exists to ensure early and accurate diagnosis of CdLS, to promote research into the causes and manifestations of the syndrome, and to help people with a CdLS diagnosis and their families to make informed decisions throughout their lifetimes.