Mustafa Khokha, MD

Associate Professor of Pediatrics (Critical Care) and of Genetics

Research Departments & Organizations

Pediatrics: Pediatric Critical Care Medicine

Office of Cooperative Research

Research Interests

Embryo, Nonmammalian; Germ Layers; Neural Plate; Notochord; Organizers, Embryonic

Research Summary

Our laboratory is interested in understanding congenital birth defects. Many children are born with various birth defects including defects of the heart, brain, lungs, and face. These birth defects often require surgery and can be difficult to treat for the child. We hope to discover the genes that lead to these birth defects with the hope of improving our understanding of how human development (embryology) occurs.

Extensive Research Description

My laboratory is interested in the problem of birth defects that occur when embryonic patterning fails to occur properly. A fertilized egg must activate a complex genetic program in order to form functional adult structures. Failure to do so correctly leads to congenital malformations in children, the main cause of infant mortality in the US. We are particularly interested in cellular signals and transcriptional regulation that lead to particular fate changes that specify new tissue types during development. We are also interested in morphogenesis that provides shape to the developing embryo.

Our main approach is to analyze genes identified in infants and children that have birth defects.

We focus on Xenopus as a model system because it is the most closely related human model that is easily and rapidly manipulated. Also there are many congenital malformation genes to analyze and the low cost of Xenopus allows us to study many of these genes by engaging in high-throughput screens. Our main focus is:

  • Analysis of human mutations using Xenopus In collaboration with Lifton and Brueckner labs, we have identified a number of genes that are mutated in patients that have congenital heart disease, a failure to properly pattern the heart. We have validated a number of these genes by showing that they also cause abnormal development of frog hearts and are now analyzing the mechanisms of their development. Many of these genes are novel and identifying their mechanisms of cardiac morphogenesis will lead to new understanding of congenital malformations and the underlying developmental biology. We are looking to expand to other organ systems as well including the patterning of the face and other organ systems.

Clinical Trials

Conditions Study Title
Children's Health, Genetics - Pediatric Pediatric Genomics Discovery Program (PGDP)

Selected Publications

See list of PubMed publications

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Contact Info

Mustafa Khokha, MD
Lab Location
Khokha LabFitkin Memorial Pavilion
789 Howard Avenue, Ste FMP 425

New Haven, CT 06519
Office Location
Office - Mustafa KhokhaFitkin Memorial Pavilion
789 Howard Avenue, Ste FMP 410

New Haven, CT 06519
Mailing Address
Pediatric Critical Care MedicinePO Box 208064
New Haven, CT 06520-8064

Curriculum Vitae

Khokha Lab