Assistant Professor in Ophthalmology
Dr. Kinga Bujakowska earned her PhD in Molecular Genetics from the University College London, UK, where she studied the disease mechanism of a specific form of Retinitis Pigmentosa caused by mutations in the splicing factor gene PRPF31. She did her first post-doctoral training in the Insitut de la Vision, France, where she was involved in mapping new genetic defects in patients with Retinitis Pigmentosa and Congenital Stationary Night Blindness.
Kinga joined the Ocular Genomics Institute in September 2012, where she is involved in the genetic characterization of patients with inherited retinal degenerations.
Contact Information:
Phone: 617-573-6944
Research Fellow
Dr. Riccardo Sangermano graduated in Medical Biotechnology from the Federico II University of Naples, Italy. In Naples, he also worked as fellow at the Telethon Institute of Genetics and Medicine (TIGEM). In September 2013 he obtained a Marie Curie Early Stage Researcher fellowship and moved to the Netherlands, where he joined the group of Prof. Frans Cremers at the Department of Human Genetics, Radboud University Medical Center. His research mainly focused on the investigation of novel genetic causes in inherited retinal dystrophies and on unraveling the missing heritability in ABCA4-associated Stargardt disease. In July 2018 he obtained his PhD in Medical Science from the Radboud University, The Netherlands.
Riccardo joined the Ocular Genomics Institute in August 2018, where he is involved in the investigation and functional characterization of genetic modifiers in patients with inherited retinal dystrophies.
Research Fellow
Dr. Egle Galdikaite-Braziene graduated in Molecular biology and Biotechnology from Vytautas Magnus University in Kaunas, Lithuania. She joined the group of Prof.dr. Algimantas Paulauskas and focused on tick borne-disease research. In 2016 earned her PhD in Molecular Biology from Vytautas Magnus University, Kaunas, Lithuania where she studied genetic variability of Ixodes ricinus ticks.
Egle joined the Ocular Genomics Institute in July 2020 for Dr. Kinga Bujakowska and is involved in the investigation of therapeutic strategies for EYS gene associated retinal degenerations.
Han Jinu
Jinu Han is a pediatric ophthalmologist and neuro-ophthalmologist at Yonsei University College of Medicine, South Korea. He obtained his MD at Yonsei University College of Medicine, and he completed ophthalmology residency and fellowship training at the same institution, where he also took his faculty position. His work aims to identify genetic defects in patients with infantile nystagmus syndrome and inherited retinal degeneration, to better understand various molecular causes of childhood onset inherited eye diseases and develop patient-specific treatments. His work has led to expand phenotypes in infantile nystagmus syndrome including SLC38A8 foveal hypoplasia, helped highlight the importance of non-coding mutations in FRMD7-related infantile nystagmus. Dr. Han’s research work is focused on improving our understanding of the genetic causality of non-coding variants and developing software to analyze whole genome sequencing in patients with genetically unsolved after targeted panel or exome sequencing. Dr. Han has been involved in Consortium of Pediatric Neuro-ophthalmologists (CPNO) and Foveal Development Investigator Group (FDIG). He has authored over 60 peer reviewed articles, including articles published in JAMA ophthalmology and Ophthalmology. In 2023, he joined Bujakowska Lab, OGI and will spend a year in OGI as a sabbatical year where his focus is on genomic data analysis and interpretation of variants in whole genome sequencing data.