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Welcome to the Khokha Lab!

The Khokha lab is interested in the genes and developmental mechanisms that lead to birth defects (congenital malformations). Our approach is novel gene discovery in congenital malformation patients followed by developmental mechanism discovery in Xenopus.

Our Research Areas

  • Congenital malformation are the number one cause of infant mortality in the US and Europe, but our understanding of the genetic causes and the developmental mechanisms remains poor.

  • The ability to watch cells and subcellular structures as well as different cellular signals is fundamental to developmental biology. New imaging modalities are transforming our view of the embryo and developmental mechanisms.
  • Cilia are critical organelles for cellular signaling during development that can lead to disease when abnormal. We have identified a number of congenital malformation genes that affect cilia.

  • Notch signaling can control cell fate and cilia identity. In a patient with heterotaxy, we identified a novel regulator of Notch, GALNT11.

  • From patients with congenital malformations, we have identified novel regulators of Wnt signaling.
  • Many of the genes identified from patients with congenital malformations have no known role in embryonic development.
  • Griffin et al. demonstrate that the candidate congenital heart disease gene, RAPGEF5, regulates nuclear translocation of β-catenin independently of the importin β1/Ran-mediated transport system. They propose that RAPGEF5 and its target GTPases define a parallel nuclear transport pathway required for Wnt signaling activity in development and disease.