Get to know Sandra Louzada, Researcher, GER Group
In this edition we interview Sandra Louzada, who was recently awarded in the FCT Concurso Estímulo ao Emprego Científico – a junior researcher contract and will soon join BioISI!
Tell us about your research interests.
My research has been in the field of molecular cytogenetics, the study of chromosomes (their structure and evolution), genome variation and expression, using fluorescent in situ hybridization (FISH) and molecular biology techniques. During my PhD, I focused in the study of karyotype restructuring during species evolution and cancer, and the role of satellite DNA (highly repetitive sequences in the genome) in that dynamics, using rodents as model. After my PhD I started to work in the Molecular Cytogenetics Core Facility at the Wellcome Sanger Institute where I deepen my experience in molecular cytogenetics and also stayed alongside with the latest developments in the field of molecular biology and genomics. This position has allowed me to collaborate with different groups from diverse research areas. So in the last few years, my research has been focused in the visualization and characterization of complex genomic structural variants; characterisation of chromosomal structural and numerical rearrangements in cancer cell lines, and in mouse models of human tumours; karyotyping by multiplex-FISH iPSC and ESC lines from human and mouse; high-resolution mapping of genomic DNA clones (BACs & fosmids) assisting the assembly and ordering of sequence contigs of genomic sequences, validation of cancer fusion genes; RNA expression analysis; and cross-species comparative studies.
What are the main projects you’ve worked on?
From the collaborative projects in which I have been involved I can mention some examples. One project that was very interesting and also received attention from the media was the study showing that alcohol exposure causes damage to the chromosomes in the mouse blood cells resulting in rearrangements of their chromosomes. Besides that, I can also mention the optimization of techniques for obtaining single-molecule DNA fibres by molecular combing followed by multicolour fibre-FISH and its application to study multiallelic gene families with internal complex structures. These methods were used for the visualization and characterization of structural variants in the human amylase and glycophorin locus, which have been identified but not fully resolved by different genomic technologies.
You will join BioISI soon – tell us about your project and expectations
My project aims to study the mechanism of Robertsonian translocations in humans by analysing its centromere structure. Robertsonian translocations result from the centric fusion between two acrocentric chromosomes and they represent the most common structural rearrangements in the human population, playing a significant role in human fertility, genetic disorders (such as Down syndrome) and cancer. We all know that the chromosomes centromeres are populated by highly repetitive sequences, the satellite DNAs, and that these sequences have been underrepresented in the human genome assemblies. This was due to their repetitive nature combined with sequencing technologies that were not capable to produce long enough reads. The recently improved Nanopore-sequencing technology holds the promise to provide insights to these genomic sequences. So, the innovative nature of this work will be the use of improved sequencing techniques to increase our knowledge about these repetitive sequences structure in both normal and rearranged chromosomes. We expect to shed some light into the mechanism of such rearrangements, and also study its epigenetic signature by comparing the transcriptional profile of translocated and non-translocated chromosomes. The study of the repetitive sequences of the genome is not new to me, although I am aware that it represents a big challenge. But I won’t be alone of course. I will integrate a wonderful research team with expertise in this field and together with them and other collaborators, I will try my best to successfully achieve relevant findings.
How will the FCT Concurso Estímulo ao Emprego Científico – Individual award benefit your career?
I believe that this award will benefit my career, once it will allow me to develop a very interesting and challenging project. This position will permit me to be more independent, to further grow as a researcher and hopefully lead to significant contributions. I am very excited with this new project.
What do you consider your greatest achievement in science?
I have had a lot of good experiences working in science so far and I had the opportunity to work with some of the world research leading groups, which resulted in meaningful contributions to science, so I can say that I feel already quite happy. I will continue to work hard doing something I really like and I hope that big achievements will be a part of my future
Which science figure do you most identify with?
I cannot say that I have or had any particular science figure that I identify myself with. My decision to pursue a research career was the idea of a constant challenge and the excitement of being able to contribute to something that would improve people’s life. So, in that sense I can say that I identify myself with all the researchers that also thinks the same way, everyone that feels that science makes them exited and gives them a sense of accomplishment even when facing long hours of work, frustrations, or lack of funding. But one thing I can certainly say, that along my way so far, I have met some inspiring people that taught me so much and whose advices and learnings I will always remember.