The first steps of my scientific career were taken in 1999, when I joined the Prof. Rafael Jiménez’s research group as undergraduate student of the Department of Genetics of the University of Granada (Spain). It represented the fulfillment of a dream that I had since the very first time that I heard about the Mendel’s principles of inheritance in the high school. Therefore, although my research has been relatively multidisciplinary, Genetics has been always a common topic in my investigations.

My PhD was focused on the study of the genetics of gonad development from an evolutionary point of view. During my first postdoc in the Prof. Martin Collinson’s group (Institute of Medical Sciences, University of Aberdeen, UK), I studied the molecular mechanisms underlying the eye development in a new model of dysgenetic eyes (moles of the Talpidae family), in order to increase the knowledge about the functionality and evolution of the eye and its possible pathogenic mechanisms in human diseases. The results of my research were published in prestigious scientific journals and had international media coverage.

I started working in Human Genetics as a senior postdoc in the Prof. Javier Martin’s group (Institute of Parasitology and Biomedicine ‘López-Neyra’, CSIC, Granada, Spain) in 2010. The main research line in which I was involved during my stay at that institution (from 2010 to 2016) was the study of the genetic basis of human autoimmune diseases. I would like to highlight my central role in the coordination and publication of the first large-scale genetic analyses in giant cell arteritis (a systemic vasculitis that may lead to blindness and stroke), with the participation of several international consortia such as the VCRC and the EUVAS, amongst others. The result of such international effort was the publication of two high impact papers in the prestigious journal ‘American Journal of Human Genetics’ (D1 in ‘Genetics and Heredity’), in which I were first and corresponding author (Carmona et al. 2015 and Carmona et al. 2017). Our research generated much interest and public discussion. During my postdoc at IPBLN, I participated as speaker in 8 international congresses (including the two most relevant congresses of Rheumatology worldwide: ‘ACR’ and ‘EULAR’, in which I also chaired two sessions on Genetics), and I gave several conferences by invitation at national and international meetings (including the ‘Third International Symposium & Imaging Workshop on GCA, PMR & LVV’, Southend-on -Sea, UK).

In 2016, I was awarded with a ‘Ramón y Cajal’ grant and came back to the Department of Genetics of the University of Granada, where I obtained an Associate Professor position in May 2021. I started working on a new research line focused on the identification of the molecular causes of non-obstructive azoospermia (one of the most extreme manifestations of male infertility). This line, which I coordinate together with my colleague Dr. Rogelio Palomino, received funding from the Spanish Government through the National and Regional grants SAF2016-78722-R (from 2017 to 2021), PID2020-120157RB-I00 (from 2021 to 2024), PY20_00212 (from 2021 to 2023), and B-CTS-584-UGR20 (from 2021 to 2023), and it is being developed in collaboration with IVI-RMA, the largest assisted reproduction group in the world, as well as different researchers and clinicians from both national centres (University of Granada, Instituto Biosanitario ibs. GRANADA, Hospital ‘La Fé’ in Valencia, Hospital ‘Virgen de las Nieves’ in Granada, ‘Complejo Hospitalario’ in Jaén, IDIBELL and Puigvert Foundation in Barcelona) as well as international centres (IPATIMUP ‘Institute of Pathology and Molecular Immunology’ of the University of Porto in Portugal, ‘Instituto Nacional de Saúde Doutor Ricardo Jorge’ of Lisbon in Portugal, ‘Institute of Human Genetics’ of the University of Münster in Germany, and the ‘Wellcome Sanger Institute’ of Cambridge). This big collaborative effort allowed us to conduct the first well-powered genome-wide association study of severe spermatogenic failure (SPGF) in a population of European descent, which was published in Communications Biology. In total, more than seven million genetic variants were analysed in 1,274 infertile men due to SPGF and 1,951 unaffected controls from Spain, Portugal, and Germany. Our results showed associations between two genomic regions and the most extreme histological pattern of SPGF, defined by the Sertoli cell-only (SCO) phenotype. Specifically, 1) the class II major compatibility complex gene HLA-DRB1 and 2) a nearby region of the VRK1 gene, which encodes a protein kinase involved in the regulation of spermatogenesis and whose depletion causes SCO-like male infertility in murine models. Therefore, our data support the notion of unexplained SPGF as a complex trait influenced by common variation in the genome, with the SCO phenotype probably representing an immune-mediated condition. We believe that the data generated during this study may contribute to a solid basis for future translational studies, especially those aimed at developing genetic panels predictive of sperm retrieval success from testicular biopsies in patients with unexplained SPGF, one of the current challenges in the field of reproductive medicine.

Overall, I have contributed so far to the publication of 79 JCR articles (32 in the last 5 years) with an average impact factor of 5.484 (6.926 in the last 5 years), I have participated in 68 congresses (49 of them being international and 25 as oral presentations), I have been actively involved in 14 research projects (including the European projects BTCure and PRECISESAD in the framework of the Innovative Medicines Initiative, IMI), acting as Principal Investigator in 4 of them (2 within the Spanish National Research Plan), and I have supervised 14 Master’s Theses (TFM) and 2 Doctoral Theses.

Currently, I am member of the Excellence Unit AD®ULT of the Biomedical Research Centre (CIBM, Granada, Spain), the Health Research Institute of Granada (ibs.GRANADA), the Institute of Biotechnology of the University of Granada, and the State Agency for Evaluation and Prospective (ANEP) expert base in the area of Biomedicine.