Katherine Uyhazi, MD, PhD
Assistant Professor of Ophthalmology
CHOP Affiliate, Children's Hospital of Philadelphia
Department: Ophthalmology
Graduate Group Affiliations
Contact information
Stellar Chance Laboratories, Rm 313A
422 Curie Blvd
Philadelphia, PA 19104
422 Curie Blvd
Philadelphia, PA 19104
Office: (215) 662-8816
Education:
B.S (Biology)
The College of New Jersey, 2005.
M.D/Ph.D. (Cell Biology)
Yale School of Medicine, 2013.
Permanent linkB.S (Biology)
The College of New Jersey, 2005.
M.D/Ph.D. (Cell Biology)
Yale School of Medicine, 2013.
Description of Clinical Expertise
Inherited retinal degenerationsRetinitis pigmentosa
Stargardt disease
Cone rod dystrophy
Leber congenital amaurosis
Gyrate atrophy
Electroretinography (ERG)
Genetic testing
Description of Research Expertise
Retinal gene therapyStem cell therapy
Retinal regeneration
Photoreceptor development
Subretinal injections
Induced Pluripotent Stem Cells (iPSCs)
Murine models of eye disease
Single cell RNA sequencing (scRNAseq)
Retinal histology
Selected Publications
Bedoukian E, Bennett J, Uyhazi KE, Maguire AM, O’Neil EC, Krauss E, Roman AJ, Sumaroka A, Swider M, Scoles D, Garafalo AV, Cideciyan AV, Aleman TS: Treatment Potential of RPGRIP1-associated Inherited Retinal Degenerations. Association for Research in Vision and Ophthalmology (ARVO) 2024 Annual Meeting (Seattle, WA). Notes: Poster #A0063. 2024.Wilder RJ, Duong T, Yano JJ, An A, Uyhazi KE: AAV-mediated gene therapy improves cell viability in a patient-derived induced pluripotent stem cell model of gyrate atrophy. Association for Research in Vision and Ophthalmology (ARVO) 2024 Annual Meeting (Seattle, WA) 2024.
Yano JJ, Wei Z, Bell BA, Uyhazi KE: Identification of Photoreceptor Precursor Cells for Subretinal Transplantation in a Mouse Model of Leber Congenital Amaurosis. Association for Research in Vision and Ophthalmology (ARVO) 2024 Annual Meeting (Seattle, WA) 2024.
Aleman TS, Cideciyan AV, Weber ML, Santos A, Uyhazi KE, Parchinski K, Chung W, Margaritas P, Sun J, Scoles D, Garafolo AV, Jayagopal A, Yerxa BR, Tuller S, Maguire AM, Bennett J: AAV8-hLCA5 Subretinal Delivery to the Macula in LCA5-associated Leber Congenital Amaurosis (LCA5-LCA): Preliminary Safety and Efficacy Results of an Ongoing Phase I/II Clinical Trial. Association for Research in Vision and Ophthalmology (ARVO) 2024 Annual Meeting (Seattle, WA) 2024.
Yano JJ, Wei Z, Bell BA, Uyhazi KE: Characterizing Photoreceptor Precursor Cells During Murine Retinal Development. 2024 Mid-Atlantic Society for Developmental Biology (SDB) Regional Meeting (College Park, MD). 2024.
Yano JJ, Wei Z, Bell BA, Uyhazi KE: Characterizing Photoreceptor Precursor Cells for Transplantation in a Mouse Model of Leber Congenital Amaurosis. 2024 Gordon Research Conference, Visual System Development – Establishing Form and Function in the Eye and Visual Brain. (Lucca, Italy). 2024.
Soucy JR, Aguzzi EA, Cho J, Gilhooley MJ, Keuthan C, Luo Z, Monavarfeshani A, Saleem MA, Wang XW, Wohlschlegel J, RReSTORe Consortium, Baranov P, Di Polo A, Fortune B, Gokoffski KK, Goldberg JL, Guido W, Kolodkin AL, Mason CA, Ou Y, Reh TA, Ross AG, Samuels BC, Welsbie D, Zack DJ, Johnson TV: Retinal ganglion cell repopulation for vision restoration in optic neuropathy: a roadmap from the RReSTORe Consortium. Molecular Neurodegeneration 18(64), Sep 2023.
O'Neil E, Qin V, Weber M, Uyhazi KE, Scoles D, Jiang Y, Maguire A, Bennett J, Morgan J, Aleman TS: Structural and Functional Relationships in RDH12-Associated Early-Onset Severe Inherited Retinal Degeneration. Association for Research in Vision and Ophthalmology (ARVO) 2023 Annual Meeting (New Orleans, LA) 2023 Notes: Poster Abstract #3885122.
Wilder R, Duong T, Fossett G, Wei Z, Uyhazi KE: Developing Gene Therapy for Gyrate Atrophy. 150th Anniversary Meeting of the Scheie Eye Institute. (Philadelphia, PA) 2023 Notes: Poster.
Uyhazi KE, Yano JJ, Fossett G, Wei Z: Novel Populations of Photoreceptor Precursor Cells by Single Cell Transcriptomics. 150th Anniversary Meeting of the Scheie Eye Institute. (Philadelphia, PA) 2023.