Project Supervisor

Jairo Rodriguez Lumbiarres


After completing my degree in Biology (UAB, Spain) I pursued a Ph.D in Genetics (IDIBELL,Spain) studying the epigenetic regulation of gene silencing and chromosomal instability in colorectal cancer, from a genomic perspective. I later joined Dr. Toshio Tsukiyama’s lab at FHCRC (Seattle, USA) as a postdoc, where I refined my understanding of how chromatin structure regulates essential functions by studying chromatin structure during DNA replication using genomic analysis tools.

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During all my training years I combined both wet lab experiments and bioinformatic/statistical analyses, which allowed me to be independent when it comes to producing and analyzing genomic data. I made a career switch when I joined qGenomics in 2015, a private company focused on the use and development of genomic tools to diagnose rare genetic diseases. Since 2018 I direct the R&D department and I oversee NGS data production (wet lab) and analysis (bioinformatics) as well as many of the research projects that aim at developing the next set of genomic analysis tools with a special interest in cell free DNA analysis.

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As a company, we strive to provide our clients the best service possible when it comes to genetic diagnostic and screening of rare diseases. In this context we focus on the development of novel strategies that will allow us to offer both the best services today as well as the next generation of diagnostic tools. We are specially interested in the identification of novel biomarkers in the bloodstream that can be used as non-invasive diagnostic markers.

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This is the case of cell free DNA (cfDNA), a biomarker that harbours different kinds of information such as the genetic and epigenetic footprints of the tissues that originated them. cfDNA is already being extensively used in the context of prenatal diagnostics (NIPT) and we have been focused on its use as a tool to monitor tumor relapse. For the present project we are going back to the placenta to identify changes in its cfDNA signatures that can be used as early biomarkers of complications and disease.

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Garcia P., Fernandez-Hernandez R., Cuadrado A., Coca I., Gomez A., Maqueda M., Latorre-Pellicer A., Puisac B., Ramos FJ., Sandoval J., Esteller M., Mosquera JL., Rodriguez J., Pié J., Losada A., Queralt E. (2021). Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome. Nature Communications. 12(1):4551.

Rodriguez J., Lee L., Lynch B., Tsukiyama T. (2017). Nucleosome occupancy as a novel chromatin parameter for replication origin functions. Genome Research. Feb;27(2):269-277.

Azagra A., Román-González L., Collazo O., Rodríguez-Ubreva J., de Yébenes VG., Barneda-Zahonero B., Rodríguez J., Castro de Moura M., Grego-Bessa J., Fernández-Duran I., Islam AB., Esteller M., Ramiro AR., Ballestar E., Parra M (2016). In vivo conditional deletion of HDAC7 reveals its requirement to establish proper B lymphocyte identity and development. Journal Experimental Medicine. 14;213(12):2591-2601.

Rodriguez J., Tsukiyama T. (2013). ATR-like kinase Mec1 facilitates both chromatin accessibility at DNA replication forks and replication fork progression during replication stress. Genes and Development. 27 – 1, pp. 74 - 86.