Current project: Validation of preclinical models of ZAK-linked myopathy
Advice to aspiring scientists: “Its a very competitive time, so you need to be ready to accept no for an answer and keep going. If you believe in your vision and hypothesis that should be more important than any short-term negation.”
Selected publication: Jokl EJ & Blanco G (2017) Disrupted Autophagy undermines skeletal muscle adaptation and integrity. Mammalian Genome
Between two non-related humans, there is an average of >5 million genetic differences which correspond to variations in characteristics such as height and eye colour. Alongside coding for superficial traits, these differences can include mutations leading to inherited diseases. These disease-causing variations often lead to changes or loss of protein function which can consequently contribute to neurodegeneration, macular degeneration and a myriad of other conditions. One of the many goals of genetic research is to identify which genes and respective mutations of the gene are linked to certain diseases. Discovery of this information consequently allows for the study of the encoded mutated protein. Until recently, causal mutation identification was an immensely difficult task which required years of research from devoted groups. Modern technological advancements making compilation and analysis of genetic information much more efficient mean this is no longer such a monumental challenge. As a researcher whose goals have changed with these improvements in the field, the academic career of Dr Gonzalo Blanco is a great example of how the implementation of scientific findings is improving the way research itself is done.
Dr Blanco began his scientific career by specialising in the manipulation of the nitrogen fixating pathways of free-living bacterial organisms following the completion of his PhD in Seville, Spain. It was at this time in the early 90s that mice were quickly becoming the go-to model for human disease study and that Dr Blanco made the switch to studying neuromuscular mice models of disease through his first postdoctorate research experience at Imperial College in London. Due to the limited capabilities of gene manipulation and sequencing technologies at the time, rather than knocking genes out of mice selectively and studying the effects, the genetic code of mice was randomly mutated through mutagenesis leading to different effects or phenotypes. Different research groups went on to focus on the various mutagenic strains showing distinct phenotypes. In 2001 after extensive study of a mutagenised mouse strain which showed an inability to build muscle, Dr Blanco and colleagues were able to identify a mutation in a protein later notated ‘KY’ responsible for the condition.
The identification of the gene and the KY protein which it encoded for gave Dr Gonzalo and colleagues a precedent to work with. It meant that a gene within similar functions known as a homologue could be searched for in humans suffering muscular atrophy and studied for signs of mutation. Following this discovery, Dr Gonzalo could either continue to apply genetic techniques in attempts to further identify genes in mice linked to neuromuscular diseases or could devote his career to the characterisation of the KY protein in an attempt to suggest treatment methods for muscular atrophy.
Dr Gonzalo has gone on to do a bit of both; working on the experimental analysis of the molecular role of the KY protein as well as attempting to further identify other mutations linked to muscular atrophy in mice models. To Dr Gonzalo’s satisfaction, there were 3 scientific reports identifying mutations in the KY homologue of humans last year. The individuals expressing these mutations showed similar conditions of muscular atrophy. The researcher who also holds editorial roles for the ‘Open Journal of Genetics’ and ‘Advances in Microbiology Research’ is satisfied to see his long-term work come to fruition and recognises the massive impact that the development of next-generation sequencing techniques have had on the field of human genetics. It has allowed labs to get access to rare disease mutations using techniques such as whole exome sequencing even in minimally equipped scenarios.
To date, Dr Blanco is in cooperation with a research group in Israel studying a neuromuscular disease prevalent in a particular Bedouin tribe in an attempt to study the genetics of the secluded population and identify causal mutations. The career of the distinguished geneticist who is also a painter and a father is an exemplary case which demonstrates passion and perseverance are enough to allow a change in research path. Like other academics of the University, Gonzalo is driven by his genuine curiosity and hopes of discovery.