Prof. Dr. rer. nat. Bernhard Weber
Bernhard H.F. Weber, Ph.D., is professor and head of the Institute of Human Genetics at the University of Regensburg, Germany, where he currently serves as Vice President of Research. Prior to his current position, Prof. Weber held the position of associate professor at the University of Würzburg, Germany. From 1988 to 1993, he was research assistant and later assistant professor in the Department of Medical Genetics with cross-appointment in the Department of Ophthalmology at the University of British Columbia in Vancouver, Canada. In 1988, Prof. Weber completed his Ph.D. at the Institute of Human Genetics at the University of Freiburg, Germany.
Prof. Weber established a comprehensive research program on the hereditary retinal degenerations and the genetically complex age-related macular degeneration (AMD). He is particularly interested in understanding underlying monogenic and complex disease pathologies. Ongoing research involves the identification of the genetic factors associated with retinal disease, the development and analysis of animal models as tools to understand the in vivo function and dysfunction of retinal disease genes. Importantly, his research addressing genetic variation and its consequences on cellular function has been greatly extended by including state-of-the-art technologies such as induced pluripotent stem cell approaches to generate cellular model system for patient-derived retinal and retinal pigment epithelium cells. His work has a strong focus on translational aspects to explore concepts of innovative therapeutic intervention in retinal disease. To this end, his bibliography which comprises overall of over 280 peer reviewed publications, provides testimony to various treatment approaches applying innovative technologies such as small molecule compound testing or gene replacement via adeno-associated viruses and nanoparticles. In this context, his Institute has a longstanding commitment towards DNA diagnostics for hereditary retinal dystrophies. His DNA diagnostics unit offers single gene analysis and gene panel testing via next generation sequencing, with the latter technology specifically addressing the striking genetic heterogeneity in retinal diseases.
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