Dr Horvath Laboratory
Rita Horvath’s laboratory research focusses on understanding the molecular mechanisms of tissue specific clinical presentations in some forms of mitochondrial diseases (abnormal mitochondrial protein synthesis), with the aim of developing treatments. They also study molecular mechanisms and clinical biomarkers in inherited peripheral neuropathies (Charcot-Marie-Tooth Disease). In the skeletal muscle and cells of patients with tissue specific mitochondrial diseases Dr Horvath’s group has identified some molecular targets which they continue to investigate in primary fibroblasts, myoblasts and iPSC-derived neurons and muscle cells. In parallel, the group also uses zebrafish models of mitochondrial diseases caused by abnormal mitochondrial translation or mtDNA depletion to study the effect of targeted treatments in transgenic zebrafish. Comparing the results in human cells and zebrafish will validate molecular targets, which can be further studied in the clinic.
[custom-twitter-feeds screenname=”HorvathLab” num=1]
Professor Chinnery Laboratory
Professor Chinnery’s mitochondrial genomics and human diseases laboratory aims to determine the major nuclear and mitochondrial genetic factors that modulate the clinical expression of mitochondrial disorders. His laboratory research involves three main themes (i) defining the sub-cellular mechanism responsible for the mtDNA genetic bottleneck (ii) characterising novel nuclear gene defects in patients with Mendelian mitochondrial disorders (iii) defining the critical nuclear-mtDNA interactions responsible for mitochondrial disorders and their variable phenotype in patients.
Dr Van den Ameele’s Laboratory
Dr Van den Ameele’s laboratory focuses on the molecular mechanisms of tissue specificity in mitochondrial disease
In the lab, Jelle’s group studies how cells and tissues respond to mitochondrial dysfunction. His research themes are (1) how cell-type composition of a tissue and cell-to-cell communication may provide protection against mitochondrial disease, and (2) how transcription of the nuclear genome is regulated when a cell is confronted with mitochondrial dysfunction.
Using the model system of the fruit fly Drosophila melanogaster, Jelle employs advanced genetic tools and combines these with confocal and super-resolution imaging, biosensors, and innovative sequencing approaches to study the effects of tissue- and cell-type specific mitochondrial dysfunction in vivo, in the developing and aging brain.
Dr Yu Wai Man’s Laboratory
Dr Yu Wai Man’s laboratory focuses on the molecular genetic basis of the inherited optic neuropathies and the application of gene therapy to treat this group of disorders. The group is also using transgenic zebrafish models to study the mechanisms leading to retinal and optic nerve degeneration. In collaboration with Professor Michael Cheetham at the UCL Institute of Ophthalmology, there is an advanced research programme capitalising on the use of patient-derived induced pluripotent cells to generate various retinal cell types. We are using these in vitro disease models to test new treatment strategies working closely with industrial partners.