Dr. Robert Hufnagel is a physician-scientist who joined the Center for Integrated Healthcare Research in 2023. After receiving his M.D. and Ph.D. from the University of Cincinnati (Cincinnati, Ohio), he completed his Pediatrics and Clinical Genetics residency at Cincinnati Children’s Hospital, followed by fellowships in Clinical Ophthalmic Genetics at the National Eye Institute (NEI/NIH) and Clinical Molecular Genetics and Genomics at the National Human Genome Research Institute (NHGRI/NIH).
His research is dedicated to improving utilization of genomic data in medicine at point-of-care. Research focuses include the role of genome sequencing for rare and common diseases, models for variant classification of pathogenicity, and genotype-first approaches to diagnosis and management. These projects combine clinical data, biostatistics, and high-throughput sequencing analysis to establish patient-centered disease models for translational and preclinical studies.
Dr. Hufnagel also serves in leadership roles in several clinical and research organizations, including the American College of Medical Genetics and Genomics (ACMG), the Clinical Genome Resource (ClinGen), the Association for Research in Vision and Ophthalmology (ARVO), and the Foundation Fighting Blindness (FFB).
