CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

Avni Santani

Avni Santani

Director – CLIA Laboratories, Strategic Partnerships and Innovation

Dr. Avni Santani, Ph.D, is Director of CLIA Laboratories, Strategic Partnerships and Innovation at CAG, where she oversees the clinical genomics program for rare pediatric disorders. She is also an Associate Professor of Clinical Pathology at the University of Pennsylvania. Dr. Santani received her Master’s in Medical Molecular Genetics at the University of Aberdeen and her PhD in Genetics at Texas A&M University. She holds specialty board certifications in Clinical Molecular Genetics and Clinical Cytogenetics.
Under Dr. Santani’s leadership, the multi-disciplinary CLIA accredited program at CAG is focused on creating comprehensive genomics program for patients with rare genetic disorders by forming strategic alliances with pharmaceutical companies, advancing gene discovery, developing comprehensive genetic tests, and developing innovative technologies and informatics tools. Dr. Santani is an experienced leader in molecular diagnostics with years of experience in clinical testing, genomics, strategy and laboratory administration. Her research focuses on leveraging advanced technology and informatics for the diagnosis of rare genetic disorders. Her work in the area of clinical genomics led to her receiving the Innovator of the Year Award (2015) by the Philadelphia Business Journal and Outstanding Contributions to the Prevention of Birth Defects Award by the National China Gene Bank. She also is actively involved with several national working groups including College of American Pathologists Genome Medicine Committee, the Association for Molecular Pathology, American College of Medical Genetics and the Clinical Laboratory Standards Institute and is considered an international leader in the advancement of genomic medicine.