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Gonzalo Blanco is a lecturer in eukaryotic genetics in Biology since 2010. His PhD at the university of Seville (Spain) and first postdoctoral research at Sussex University focused on manipulating nitrogen fixation pathways in free-living bacteria. A highlight was the successful modification of Azotobacter vinelindii to excrete ammonium, patented work published in Molecular Microbiology and other journals. He switched fields in 1994 to study neuromuscular mouse models of disease with Prof Steve Brown at Imperial College and, later on, at the MRC Harwell. The association of two novel proteins, KY and PKD1L2, with muscle disease in the mouse are noteworthy findings from this period. His current research focuses on understanding the molecular basis of the muscle mechanotransduction.
|2010 -||Lecturer||Department of Biology, University of York|
|2003 - 2010||Programme Leader||MRC Mammalian Genetics Unit, Harwell|
|1998 - 2002||Investigator Scientist||MRC Mammalian Genetics Unit, Harwell|
|1996 - 1998||Post-doc||MRC Mouse Genome Centre, Harwell|
|1993 - 1995||Post-doc||St. Mary’s Hospital Medical School, Imperial College|
|1989 - 1992||Post-doc||University of Sussex|
|1989||PhD||University of Seville|
|1985||Degree||University of Seville|
Lecturer in Eukaryotic Genetics
Exams committee member
Biology service facility committee member
Genetics Society local delegate
Our objective is to elucidate mechanisms of neuromuscular disease and muscle hypertrophy. We described that KY –a novel protein at the time- and Pkd1l2 -a homologue of the polycystic kidney disease gene- are associated with distinctive neuromuscular diseases in the mouse. We have also show that a recessive mutation in the most abundant skeletal muscle myosin in the mouse (MYHC IIb) causes a fulminant myofibrillar myopathy.
The role of the KY protein in muscle function has been a continuous focus in the group since we discovered that the ky gene was responsible for a muscular dystrophy and a lack of normal hypertrophic response in the mouse. Muscle atrophy is a common denominator in all of our neuromuscular mutants, but this feature is particularly relevant in the ky mouse. We are currently addressing the hypothesis that novel players of the muscle hypertrophic process may be revealed by disentangling the KY protein complex. Understanding the molecular dynamic underlying muscle adaptations is co-substantial to the prevention of muscle loss and quality of life caused by age, disease or environmental conditions.
|PhD student||Xiang Li||Characterisation of IGFN1 and ZAK|
|PhD student||Elliot Jokl||Mechanotransduction through Z-disc complexes of the skeletal muscle|
|PhD student||Tobias Cracknell||Revealing IGFN1 functional roles through in vivo CRISPR/Cas9 targeting and in vitro mechanical prote|
CRISPR/CAS mediated gene therapy of adult muscle (2015-16)
CRISPR/CAS is rapidly becoming the tool of choice for custom designed genome alterations in vitro and in vivo. Genome editing mediated by these nucleases has been used to efficiently modify endogenous genes in a wide variety of cell types and organisms. The primary objective of this project is to edit the genome of adult muscles using an efficient and mild electroporation protocol in vivo to deliver CRISPR/CAS vectors. To evaluate the translational potential of this technology we will use as experimental paradigm the well-characterized mouse muscular dystrophy ky-kyphoscoliosis. The distinctive pathology and overt phenotype displayed by ky/ky mice will greatly facilitate assessment of the genomic modification in adult mice. The KY protein deficiency results and typical dystrophic changes in slow type muscles (Blanco et al, Hum Mol Gen, 2001; Baker et al, Exp Cell Res, 2010), general muscle weakness of supporting muscles and chronic spinal deformity. In this project, the ky mutation will be reversed to wild type by providing a CRISPR/CAS vector designed to cause a double strand breaks near the mutation together with a homologous recombination template with the correct ky sequence. The functional changes of the genomic modification of paraspinal and hindlimb muscles will be assessed at molecular, cellular and whole organismal levels.
Co directors - Paul Genever