Finlands Akademi  
Sökande / Kontakt person Battersby, Brendan
Organisation Helsingfors universitet
Projektets titel Molecular basis of a ribosome rescue pathway in the pathogenesis of human mitochondrial disease.
Beslutnr 314706
Beslutsdatum 03.05.2018
Finansierings period 01.09.2018 - 31.08.2022
Finansiering 450 000
Beskrivning av projektet
Sequencing of the human genome has fundamentally transformed molecular medicine. This milestone in science and medicine generated resources, technology, and infrastructure that allows the genetic foundation of human disease to be diagnosed at an unprecedented rate. Despite this amazing development in medicine, our ability to capitalise on the data and to develop patient therapies, unfortunately, lags far behind. A major bottleneck remains our limited understanding of biology, and how mutations affect protein function and the interconnected pathways within a cell, tissue, and across the whole body. In this proposal, we are studying the molecular basis by which inherited genetic mutations affect a protein synthesis pathway needed for energy metabolism, particularly affecting young children. Ultimately, our goal is to map out the key responses that could be suitable targets for drug modulation as a future therapeutic strategy for patients.