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Retina Pathology Lab
Retinal diseases pose significant challenges to global eye health, affecting millions of individuals worldwide with a profound impact on individuals' quality of life and a considerable burden on healthcare systems. In the Retina Pathology Lab, we are dedicated to advancing our understanding of retinal diseases, such as age-related macular degeneration (AMD), diabetic retinopathy (DR) and Macular Telangiectasia type 2 (MacTel). Led by Professor Marcus Fruttiger, our research team is committed to unravelling the intricate mechanisms underlying these sight-threatening conditions and developing innovative strategies for diagnosis and treatment.
We employ a multidisciplinary approach, combining genetics, transcriptomics, metabolomics, and advanced imaging techniques to uncover the underlying causes and pathological processes driving retinal pathology. We focus on studying human biosamples to discover and/or validate molecular mechanisms, which we then further test in human cell culture models. By dissecting the complex interactions between genes, metabolism, and retinal cell function, we aim to identify novel biomarkers and therapeutic targets that will advance disease management.
Through our collaborative efforts with clinicians, scientists, and industry partners, we strive to translate our research findings into clinical applications that will directly benefit patients. Our ultimate goal is to improve the early detection, prognosis, and personalized treatment options for individuals affected by retinal diseases.
Active Collaborations and Projects
Retina Discovery Group
We have a longstanding and impactful collaboration with Moorfields Eye Hospital, working closely with Medical Retina consultants Ms Cathy Egan and Prof Adnan Tufail. This partnership between laboratory-based researchers and clinicians combines cutting-edge scientific discoveries with real-world clinical expertise. By bridging the gap between fundamental research and clinical practice, we aim to accelerate the translation of scientific breakthroughs into tangible benefits for patients.
Our collaboration, the Retina Discovery Group, enables us to gain valuable insights from patient data and clinical observations, guiding our research focus and helping us address the most pressing challenges in retinal diseases. This close interaction with clinicians allows us to refine our research goals and develop innovative approaches to prevent, diagnose, and treat these sight-threatening diseases more effectively, relevant to patient care.
MacTel Project
We have been actively involved in the MacTel project, which is funded by the Lowy Medical Research Institute (LMRI). This international, collaborative effort aims to unravel the complexities of MacTel, a rare retinal disease characterized by glial cell and photoreceptor degeneration leading to central vision loss. With their combined expertise in ophthalmology and basic research, Egan and Fruttiger have made significant contributions to understanding the underlying mechanisms and potential therapeutic strategies for MacTel. They have made important contributions towards the discovery of retinal histopathological and systemic metabolic changes associated with the disease and continue to research the pathobiological mechanisms of MacTel.
Dry AMD Initiative
This research initiative, led by Prof Tufail and Prof Fruttiger, aims to address current knowledge gaps in dry AMD to identify and validate novel targets for therapeutic intervention. To this end, we are focusing on three key approaches. Firstly, we are using large clinical datasets and genetics to better characterise and phenotype different patient populations. Secondly, we are studying human biosamples with modern readout methods to discover and validate pathobiological mechanisms and drug targets. Thirdly, we are using iPSC-derived cells in “disease in dish models” to functionally investigate the molecular mechanisms that lead to cellular dysfunction in dry AMD. By using a continuous feedback loop between studies in model systems and humans (clinical studies, genetics and biosamples) we aim to significantly accelerate disease research as well as therapy development for dry AMD.
Contact us
Professor Marcus Fruttiger
Email: m.fruttiger@ucl.ac.uk
External website: ORCID
Find us
We are based at UCL Institute of Ophthalmology,
11-43 Bath Street London EC1V 9EL.