Charles DiFalco, MD, FACMG

Dr. Charles DiFalco is Clinical Director of the Pediatric Genetics Clinic at Texas Children’s Hospital Austin. He is a pediatric geneticist who specializes in the diagnosis and management of children with both genetic and metabolic conditions, including disorders of neurologic function, global development and mitochondrial health. He has expertise in cutting-edge genetic testing technologies such as genome sequencing, RNA sequencing and multi-omics analysis to improve detection and understanding of rare genetic disorders. In addition to his clinical duties, Dr. DiFalco maintains active involvement in researching novel diagnostic approaches to mitochondrial disease, with the goal of advancing diagnostic accuracy and guiding multidisciplinary treatment strategies for affected individuals. He is a frequent presenter at national conferences including the United Mitochondrial Disease Foundation and has published extensively in the field.

Personal Statement

I am committed to providing a highly collaborative and family-centered approach to patient care, working closely with children and their families to discuss the nature of their symptoms and navigate the complex processes of clinical diagnosis, medical management and connection with support networks. My research is driven by the same goal as my clinical work: to improve how we recognize, understand and manage both rare and common disorders so that affected individuals can identify the root causes of their symptoms and receive the treatment that they need.

Outside of clinic and research, I enjoy spending time outdoors with my spouse and our many animals including a corgi, Australian cattle dog and two competition horses.

Clinical Interests

Mitochondrial disease, inborn errors of metabolism, neurodevelopmental disorders

Education

Organizations

Board Certifications

Honors and awards

2025, 2026 - Bryan Fleming Scholarship, United Mitochondrial Disease Foundation

2025 - Clinical Resident of the Year Award, Baylor College of Medicine, Department of Molecular and Human Genetics

* Texas Children’s Hospital physicians’ licenses and credentials are reviewed prior to practicing at any of our facilities. Sections titled From the Doctor, Professional Organizations and Publications were provided by the physician’s office and were not verified by Texas Children’s Hospital.

Research interests

Clinical diagnostics, complex genetic testing analysis, quality improvement in clinical practice

DiFalco, C. R., Williams, A., Soler-Alfonso, C., Waskow, E., Mizerik, E., Scaglia, F., & Murali, C. N. (2026). A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature. American Journal of Medical Genetics. Part A, 10.1002/ajmg.a.70213. https://doi.org/10.1002/ajmg.a.70213

Williams, A., Mizerik, E., Chang, H. C., Difalco, C. R., Liu, N., Bacino, C., Bertuch, A. A., Rosenfeld, J. A., Undiagnosed Diseases Network, Lee, B. H., Elsea, S. H., Murali, C. N., & Scaglia, F. (2026). Multi-generational mitochondrial complex V deficiency due to the recurrent ATP5F1A c.620G>A (p.Arg207His) pathogenic variant: A novel family and a review of the literature. Molecular Genetics and Metabolism, 149(1-2), 110207. https://doi.org/10.1016/j.ymgme.2026.110207

DiFalco, C. R., Gijavanekar, C., Wang, Y., Grace, A. N., Machol, K., Emrick, L., Liu, N., Mizerik, E., Mackay, L., Dai, H., Vossaert, L., Xia, F., Elsea, S. H., & Scaglia, F. (2025). Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes. Molecular Genetics and Metabolism, 144(3), 109009. https://doi.org/10.1016/j.ymgme.2024.109009

Walimbe, A. S., Waskow, E., Mackay, L., Miller, M., Gijavanekar, C., Difalco, C. R., Elsea, S. H., & Scaglia, F. (2025). Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency. American Journal of Medical Genetics, Part A, 197(6), e64014. https://doi.org/10.1002/ajmg.a.64014