Mustafa Khokha, MD

Associate Professor of Pediatrics (Critical Care) and of Genetics

Physician Biography

We are interested in how embryonic pattern is generated and the resultant congenital malformations that occur when patterning fails. During development, the egg must activate a cascade of genes in order to form our body structure and establish correct pattern along the body axes. We are deeply interested in the gene regulatory networks that are necessary to create critical signals in specific embryonic locations at appropriate developmental stages. These signals must be carefully orchestrated in order to generate forms that are essential to function and the overall fitness of the organism.

Our main approach is gene discovery from patients with congenital malformations, and then study them in our rapid, human model, Xenopus tropicalis. Recently, the remarkable advances in human genetics/genomics is transforming our understanding of the causes of congenital malformations. Traditionally gene discovery in these patients was very challenging, but new sequencing technologies enable gene discovery in these patients. In human studies, we have identified many new genes and are analyzing their patterning mechanisms in Xenopus. Combining human genetics with a high-throughput model system has allowed us to discover new genetic mechanisms and novel understanding of how development proceeds.

Clinical Interests

  • Genome

Patient Care

Accepts new patients? Yes
Patient Type: Child
Referrals: From physicians only

Patient Care Organizations

Pediatrics: Pediatric Critical Care Medicine


Yale Medicine

Office of Cooperative Research

Clinical Trials

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

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Contact Info

Mustafa Khokha, MD
Patient Care Location
Yale New Haven Children's Hospital
1 Park Street, Wing West Pavilion Fl 2nd Floor

New Haven, CT 06504
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Lab Location
Khokha LabFitkin Memorial Pavilion
789 Howard Avenue, Ste FMP 425

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

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

Curriculum Vitae

Khokha Lab