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Adjunct Investigator

Center for Precision Health Research

Investigator, Lasker Clinical Research Scholar

Medical Genetics and Ophthalmic Genomics Unit, National Eye Institute


B.S, Hillsdale College

M.D, Ph.D., University of Cincinnati


Dr. Hufnagel is an adjunct investigator with NHGRI’s Center for Precision Health Research, whose primary appointment is as a 2021 Lasker Clinical Research Scholar and director of the National Eye Institute’s Ophthalmic Genomics Laboratory. His research focus is on understanding the mechanistic basis of human heritable ocular disorders, including those in children and adults with rare eye diseases and syndromes. He uses a translational approach combining clinical molecular approaches and developmental biology to improve diagnosis and establish gene:disease and genotype:phenotype relationships. Using genomics, stem cell engineering, and gene editing, he seeks to establish patient-centered disease models for translational and preclinical studies. Dr. Hufnagel’s research includes clinical molecular diagnostics from patients at the NIH Clinical Center and through the eyeGENE® program to develop population genomic datasets for rare eye diseases, coupled with scientific investigations validating candidate disease genes and mapping disease-relevant noncoding genome of eye tissues. Model systems include human cells, mice, zebrafish and foveate lizards.

After receiving his M.D. and Ph.D. from the University of Cincinnati, Dr. Hufnagel completed his pediatrics and clinical genetics residency at Cincinnati Children’s Hospital, followed by fellowships in clinical ophthalmic genetics at the National Eye Institute and clinical molecular genetics and genomics at NHGRI. In addition to being a board-certified pediatrician, Dr. Hufnagel is board-certified in clinical and clinical molecular genetics and genomics.


Guan B, Frank KM, Maldonado JO, Beach M, Pelayo E, Warner BM, Hufnagel RB. Sensitive extraction-free SARS-CoV-2 RNA virus detection using a novel RNA preparation method. medRxiv [Preprint]. 2021 Feb 1:2021.01.29.21250790. doi: 10.1101/2021.01.29.21250790. Update in: iScience. 2021 Sep 24;24(9):102960. 

Prasov L, Guan B, Ullah E, Archer SM, Ayres BM, Besirli CG, Wiinikka-Buesser L, Comer GM, Del Monte MA, Elner SG, Garnai SJ, Huryn LA, Johnson K, Kamat SS, Lieu P, Mian SI, Rygiel CA, Serpen JY, Pawar HS, Brooks BP, Moroi SE, Richards JE, Hufnagel RB. Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. Sci Rep. 2020 Nov 17;10(1):19986. doi: 10.1038/s41598-020-76725-8. 

Goetz KE, Reeves MJ, Gagadam S, Blain D, Bender C, Lwin C, Naik A, Tumminia SJ, Hufnagel RB. Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):828-837. doi: 10.1002/ajmg.c.31843. Epub 2020 Sep 7.

Reeves MJ, Goetz KE, Guan B, Ullah E, Blain D, Zein WM, Tumminia SJ, Hufnagel RB. Genotype-phenotype associations in a large PRPH2-related retinopathy cohort. Hum Mutat. 2020 Sep;41(9):1528-1539. doi: 10.1002/humu.24065. Epub 2020 Jul 5. 

Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. 

Last updated: March 22, 2022