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 Malformations

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.

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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...

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

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Wnt Signaling Research

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.

Access to Lab Techniques

To access our lab protocols, simply email us for the username and password.

Highlighted Publication

Cover image by George Takahashi and Fang Huang. At the base of the cilium, localization of the nucleoporin Nup188 (colored spheres) is organized to form cylinders, as determined by W-4PiSMSN super-resolution microscopy. To learn more about the requirement for Nup188 at cilia and its organization there, as well as to access the QR code for visualizing and manipulating the 3D nanoscopy data, see del Viso et al., Developmental Cell, Volume 38 , Issue 5 , 478 - 492, 2016.