Robert B Hufnagel, MD, PhD, FACMG

Robert B Hufnagel, MD, PhD, FACMG
Senior Investigator
Contact Info
Email: Robert.B.Hufnagel@kp.org
Phone: (808) 432-5777 x1938

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 is the Genomics Implementation Lead at the Kaiser Permanente Research Bank (KPRB), including nearly 450,000 research participants. He 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).

Professional Activities:

Selected Publications:

Full List of Publications:

Studies: 

CLINICAL UTILITY OF GENOTYPING ARRAY TO DEFINE ACTIONABLE GENETIC DISEASE BURDEN IN KP RESEARCH BANK

The KP Research Bank aims to understand the frequency of actionable and incidental genomic results in KPRB participants in regard to clinical sensitivity and specificity of the genotyping array and estimate genetic risk burden in the KPRB genotyping project.

Sponsor: Kaiser Community Benefit

KPHI Principal Investigator: Robert Hufnagel, MD, PhD, FACMG

MICROPHTHALMIA, ANOPHTHALMIA, AND COLOBOMA GENETIC EPIDEMIOLOGY IN CHILDREN (MAGIC) STUDY

Congenital defects of the eye occur in approximately 5 per 10,000 live births. While there is a paucity of epidemiologic information about these conditions, there is a growing awareness of the long-term complications among children with these malformations. Among the more common visually threatening congenital eye defects are anophthalmia (total absence of the globe); microphthalmia (anomalously small eye in the orbit); and coloboma (failure of the closure of the fetal fissure). Collectively, these defects are referred to as MAC complex and are considered part of an embryologic continuum of ocular malformations. This study will be the first to comprehensively characterize the genotypic and phenotypic spectrum on a population-based sample of children living with MAC. 
NIH Reporter: https://reporter.nih.gov/search/vnfs0BFKd06gunYgDeLohg/project-details/10157486

Sponsor: NIH / NEI

KPHI Principal Investigator: Robert Hufnagel, MD, PhD, FACMG

NAC ATTACK, A PHASE-3, MULTICENTER, RANDOMIZED, PLACEBO-CONTROLLED TRIAL IN PATIENTS WITH RETINITIS PIGMENTOSA

Retinitis Pigmentosa (RP) is an inherited retinal degeneration caused by one or more of a large number of genetic mutations. It is a major cause of blindness and severe vision loss in people aged 20-60 years. Currently, there is no treatment for preventing vision loss in RP. NAC Attack is a phase-3 multicenter, randomized, double masked, parallel and placebo-controlled clinical trial to evaluate the efficacy and safety of oral N-acetylcysteine (NAC) in patients with RP. NAC Attack has the potential to identify a pharmacological therapy benefitting all patients with RP, irrespective of the identification of their causative mutation, and thus to impact on the clinical management of RP.

NIH Reporter: https://reporter.nih.gov/search/OlkdPVvZJUic0vzdwqXX9w/project-details/11179132

Sponsor: NIH / NEI

KPHI Principal Investigator: Robert Hufnagel, MD, PhD, FACMG