Avinash Dharmadhikari

Avinash Dharmadhikari, PhD, is an Assistant Professor of Clinical Pathology at the University of Southern California. His research focuses on genomic and genetic mechanisms underlying rare diseases, particularly in pediatric and prenatal populations. He specializes in molecular diagnostics, exome sequencing, and the identification of genetic variants associated with neurodevelopmental disorders, metabolic conditions, and developmental anomalies.

Key research interests include the application of optical genome mapping and copy number variation analysis to improve clinical interpretation of genetic data, as well as the study of genes involved in intellectual disability and autism spectrum disorders. His work has contributed to understanding the genetic basis of alveolar capillary dysplasia, coenzyme Q deficiencies, and stillbirth etiologies.

Publications highlight advancements in genomic technologies, such as the use of UMI-based panels for vascular anomaly diagnosis and the validation of prenatal gene curation methods. His studies emphasize translational applications, bridging genomic discoveries with clinical management strategies for infants and children in intensive care.

No scientific awards or grants are explicitly listed in the provided materials. Collaborations may include work with the ClinGen Prenatal Gene Curation Expert Panel and the Epilepsy Genetics Initiative, as indicated by co-authored publications.