After completing my elementary education, I went to the University of Granada in Spain and obtained the bachelor in Biology. During this period, I also worked as an undergraduate student in the Genetics department of this University, under the supervision of Dr. Rafael Jimenez Medina and Dr. Miguel Burgos Poyatos. The research in which I was involved then was the genetics of sex determination and development using murine and talpid models. My first scientific publication came from that work (F. D. Carmona, D. G. Lupiañez, J. E. Martin et al, The spatio-temporal pattern of testis organogenesis in mammals - insights from the mole. Int J Dev Biol, 2009).

For my Doctoral Thesis, I moved to the CSIC (or research Spanish council) with Prof. Javier Martin. Until then, I was already fascinated with Genetics, but it was at that point that I learned that I could do a living out of the two things I love the most: Genetics and computers. From this unexpected marriage came my doctoral work under Prof. Martin supervision. One of the first papers I participated in during this period was the first GWAS in the autoimmune disease systemic sclerosis, published in Nature Genetics (Timothy R D J Radstake, Olga Gorlova, Blanca Rueda, Jose-Ezequiel Martin et al. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nature Genetics. 2010). This was the fruit of an unexpected collaboration with our now dear colleges in the United States, Dr Maureen Mayes and Dr. Shervin Assassi, for which I had to travel to Houston with three days notice. From then on, everything was systemic sclerosis Genetics for me during the next three years. During this time I performed several important studies in the Genetics of this disease, including one published in PLoS Genetics, two in Human Molecular Genetics and another one in the American Journal of Human Genetics. Also, during my Doctoral Thesis, in addition to the Houston (very) short stay of two weeks, I stayed two months in the laboratory of Dr. Bobby P. C. Koeleman in Utrecht (The Netherlands), and another month in the laboratory of Professor Jane Worthington in Manchester (UK). As probably anyone working in Genetics knows by now, you can do no longer science without computers, and as it happens you cannot always find the piece of software that suit your needs. This was the reason I also learnt to write code in BASH, R, and (some) Pearl during my PhD.

Due to the paramount need of large case/control cohorts for genetic analysis in our field, my work has been highly collaborative. The people I have worked with during these four years include (but are not limited to) Dr. Leonid Padyukov (Sweden), Prof. Timothy Radstake (The Netherlands), Peter Gregersen (USA), and the previously mentioned collaborators from the USA, The Netherlands and the UK any of which you can feel free to contact for further reference.

After the completion of my PhD, my supervisor (Prof. Javier Martin) put me in charge of an NGS project to refine the already known genetic factors in systemic sclerosis and find new ones, in which I will be working until December 2014. In addition, I intensively collaborate with other members of the lab in several side projects in the genetics of different human genetic complex disorders.

On September 2014 I moved to the fabled Cambridge to join Prof. Eamonn Maher’s team in the Medical Genetics department of the University of Cambridge based in the Addenbrookes Hospital. In there I was initially (and still officially) hired as a research associate. Soon after arriving I started my own research lines here which include a tool to prioritize genetic variants from any kind of data and disease to predict the most probable causing one from the available data using supervised and unsupervised machine learning. Additionally, upon arrival, the Stratified Medicine Core Laboratory (fancy name for the sequencing facility) here was being established and besides being formidably equipped and maned for the wet lab side of things, no bioinformatic personal was allocated, so I took the reins of this project and the admin of servers and for the processing of all the data, both for internal and external clients (among which AztraZeneca, Cambridge Epigenetics, CRUK are counted). On top of that and since I still had some free time, I have also provided bioinformatic support for the more than twenty people here in the department since computers and code writing seem such an alien thing to the average wet lab scientist. The last three years in Cambridge have been busy, but I don’t regret a single thing I have done professionally in this time.

And from this point on, the future is still unseen, but I am certain that Genetics and computers will be in it for me.