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.
epidermal cilia, Saurabh Kulkarni
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.
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...
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...
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.