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Rady Children's Specialists


Our Comprehensive Congenital Diaphragmatic Hernia Center has an active research program to identify risk factors for CDH, investigate potential new treatments and better understand its cause. By working to make these discoveries, we seek to improve the lives of CDH patients.

Cutting-edge Genomic Research

One of the main areas of study is the genetic cause of the malformation and the mechanisms responsible for lung and pulmonary vascular defects associated with CDH. Despite the frequency and severity of CDH, these causes are poorly understood.

To conduct this research, David McCulley, M.D., uses laboratory investigations as well as whole-genome sequencing in patients with CDH. Additionally, he collaborates with lung and pulmonary vascular physiologists to determine the functional consequences of the genetic mutations he has identified in patients.

By identifying the underlying mechanisms of abnormal development, Dr. McCulley seeks to discover new therapeutic approaches that improve fetal and early postnatal lung development and function in patients with CDH.


Meinen, R.D., Alali, Y.I., Al-Subu, A., Wilhelm, M., Wraight, C.L., McAdams, R.M., Limjoco, J.L., McCulley, D.J. Neurally-Adjusted Ventilatory Assist Can Facilitate Extubation in Neonates With Congenital Diaphragmatic Hernia. Respir Care. 2021; 66: 41-49.

Prieto JM, Harting MT, Calvo RY, Carroll JM, Sykes AG, Ignacio RC et al. Identifying risk factors for enteral access procedures in neonates with congenital diaphragmatic hernia: A novel risk-assessment score. Journal of Pediatric Surgery 2021; 56: 1130–1134.

Aljohani OA, Rao R, Mackie D, Haldeman S, Karamlou T. Combination of PGE1 and Pulmonary Vasodilator Therapy in Managing a Challenging Case of Severe PAH Secondary to CDH. World J Pediatr Congenit Heart Surg 2020; 11: 525–527.

Abramov, A., Fan, W., Hernan, R., Zenilman, A.L., Wynn, J., Aspelund, G., Khlevner, J., Krishnan, U., Lim, F.Y., Mychaliska, G.B., Warner, B.W., Cusick, R., Crombleholme, T., Chung, D., Danko, M.E., Wagner, A.J., Azarow, K., Schindel, D., Potoka, D., Soffer, S., Fishder, J., McCulley, D., Farkouh-Karoleski, C., Chung, W.K., Duron, V. Comparative outcomes of right versus left congenital diaphragmatic hernia: A multicenter analysis. J Pediatr Surg. 2020; 55: 33-38.

Wise AC, Boutin MA, Knodel EM, Proudfoot JA, Lane BP, Evans ML et al. Heliox Adjunct Therapy for Neonates With Congenital Diaphragmatic Hernia. Respir Care 2018; 63: 1147–1153.

Wise A, Evans M. Secondary multicystic changes in the contralateral lung associated with Congenital Diaphragmatic Hernia. Journal of Pediatric Surgery Case Reports 2018; 31: 39–42.

Sweeney NM, Nahas SA, Chowdhury S, Campo MD, Jones MC, Dimmock DP et al. The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections. Cold Spring Harb Mol Case Stud 2018; 4: a002469.

McCulley, D.J., Wienhold, M.D., Hines, E.A., Hacker, T.A., Rogers, A., Pewowaruk, R.J., Zewdu, R. Chesler, N.C., Selleri, L., Sun, X. PBX transcription factors drive pulmonary vascular adaptation to birth. J Clin Invest. 2018; 128: 655-667.

Ward EP, Wang A, Thangarajah H, Lazar D, Bickler S, Fairbanks T et al. Preemptive Ladd Procedure in congenital diaphragmatic hernia and Abdominal Wall defects does not reduce the risk of future volvulus. J Pediatr Surg 2017; 52: 1956–1961.

Hines, E.A., Verheyden, J.M., Lashua, A.J., Larson, S.C., Branchfield, K., Domyan, E.T., Gao, J., Harvey, J.F., Herriges, J.C., Hu, L., McCulley, D.J., Throckmorton, K., Yokoyama, S., Ikeda, A., Xu, G., Sun, X. Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis. Dev Dyn2016; 245: 497-507.

Branchfield, K., Li, R, Lungova, V, Verheyden J., M., McCulley, D., Sun, X. MEF2C regulates outflow tract alignment and transcriptional control of Tdgf1. Development. 2016; 143: 774-9.