Lab Members
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. Hilary Scott earned her PhD in genetics from Texas A&M University studying the role of sialylation, a post-translational modification of glycoproteins, on neuronal-glial functional coupling and its impact on neural development and physiology.
Hilary joined Ocular Genomics Institute in July 2018 focusing on developing methods to detect and validate pathogenic mutations in new and known IRD genes to find missing genetic causality in patients with inherited retina degenerations.
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.