[Biografia, versió en valencià]

[Biografia, versió en valencià]

As a university student (Universitat de València, UV), I belonged to the research team awarded with the prize “Certamen de Jóvenes Investigadores” with a proposal about polymorphisms associated with alcoholism (1993). I got my degree in Biology (1993) and my dissertation about Usher syndrome” (1998) was awarded as the best doctoral thesis by ONCE - UV. With this study, I initiated my career on genetics of rare Mendelian diseases. The main scientific contributions were the characterization of genetic bases of Usher syndrome in clinical series and the estimate of prevalence in Spain. My postdoctoral period started in the Unit of Congenital Bleeding Disorders at the University Hospital La Fe (1998-2003), where I got a fellowship from the Instituto de Salud Carlos III (ISCIII). I collaborated on research lines focused on genetics of hemophilia A and B, coagulation FVII deficiency and von Willebrand disease as a postdoctoral researcher. I participated in the genetic study of cohorts of Spanish patients with several coagulopathies. In 2003, I moved to the Instituto de Biomedicina de Valencia – CSIC where I collaborated with open research lines focused on genetics of ataxias, peripheral neuropathies and movement disorders. I described for the first time the genetic bases of an ultrare disease: uroconase deficiency. I started as a group leader with my Miguel Servet I (MSI, 2009-15), and with the first grants, I initiated my own research lines. In 2014, I was evaluated and obtained the MSII contract as PI (2015-18). My group provided new data to better understand the disease mechanism of Charcot-Marie-Tooth type 4C (CMT4C); to characterize genetics associated with CMT and generate genetic tools for diagnosis; to discover junctophilin as a genetic modifier of CMT2K; and to establish MORC2 as a new gene involved in CMT2Z. I initiated new lines focused on the molecular bases and biomarkers for NBIA (Neurodegeneration with Brain Iron Accumulation) and Wilson’s disease (WD). I participated in the development of a new clinical scale for NBIA patients as well as the description of the genetic bases. My group reported the genetics of clinical series of WD and detected a miRNA profile as biomarkers (patent).

During these years as MS researcher and group leader, I got projects funded by public or private institutions such as ISCIII, IRDiRC, CNAG, Foundation La Marató TV3, Foundation Ramón Areces, Foundation Per Amor a l'Art, AFM-Téléthon and EASIGenomics. Recently, I was awarded with my sixth national public project funded by the ISCIII (PI24-00017).

Technological development activities, in 2012, I moved my MSI contract to the Hospital U. La Fe where I created the Neurogenetics Platform, a service in which we offered genetic analysis of rare hereditary neuropathies. In 2013, I moved to the CIPF where, do I ran my own group and also worked in the Service of Genomics and Translational Genetics (SGGT), in which I carried out genetic analysis of rare neuropathies. In 2016, we generated a gene panel for hereditary peripheral neuropathies that we traded in the service. I was the SGGT’s director from 2015 until its closing in 2021.

In 2024, I obtained a teaching position in the Genetics Department of the University of Valencia where I currently carry out my teaching and research activities.

I work close with PAOs (patient advocacy organizations): (1) I belong to the scientific board of the Spanish PAOs on Wilson disease (AEFE Wilson) and ataxias (FEDAES), and I usually collaborate in meetings with others (ADIBI, ASVAH). (2) I am the chair-woman of AITER (consortium with 15 institutions for the Translational Research in Rare Diseases in Valencia). (3) I organize since 2016, the National Conference of Female Researchers in Rare Diseases, which binds science, women and rare diseases, and aims to bring science about rare diseases made by women closer to citizens.

Doctora en Farmàcia per la Universitat de València (1991), vaig realitzar una estada postdoctoral de més de 3 anys a l'Eccles Institute of Human Genetics (Universitat de Utah, USA). Després de 15 anys dedicada a l'estudi del llevat Saccharomyces cerevisiae des de gairebé qualsevol punt de vista (estudi de la paret cel·lular, sistema model per a l'estudi de gens supressors de tumors humans, anàlisi d'estrès i contaminació en llevats cervesers o l'expressió gènica global en llevats vínics), em vaig incorporar al camp de l'evolució genòmica bacteriana, en què treballe des de 2001 com a membre del grup de Genètica Evolutiva de la Universitat de València, en la qual actualment sóc Catedràtica de Genètica.

Faig la meva investigació a l'Institut de Biologia Integrativa de Sistemes (I2SysBio), centre mixt UV-CSIC ubicat al Parc Científic de la Universitat de València (Paterna). Des del 2001, m'he dedicat principalment a l'estudi del genoma de bacteris endosimbionts, que viuen dins de cèl·lules especialitzades d'insectes amb dietes restringides (com pugons, corcons o cotonets), per comprendre la relació entre estes bactèries i els seus hostatgers, la reducció del genoma bacterià en estes condicions i les conseqüències per a la xarxa metabòlica inferida. Com a complement a aquests treballs, he participat també en estudis sobre la definició del genoma mínim, fonamental per al manteniment d'una cèl·lula viva, i les seves implicacions en el camp de la Biologia Sintètica.

En els darrers anys, el nostre sistema model consolidat per estudiar interaccions simbiòtiques és la panderola alemanya Blattella germanica. Les panderoles són especialment interessants perquè en cada individu coexisteixen dos sistemes simbiòtics, un endosimbiont obligat i una complexa microbiota intestinal. Hem desenvolupat estratègies per comprendre millor la implicació de cada sistema en el benestar de l'hostatger i el suposat diàleg entre els participants en la relació. Actualment ens estem centrant en l'estudi dels mecanismes moleculars utilitzats per l’hostatger per controlar els simbionts, prestant especial atenció als pèptids antimicrobians i als microRNAs.

Projectes d’investigació actuals

- Host-symbiont communication and its utility in biological pest and pathogen control (SYMB-CONTROL, PID2021-128201NB-I00; co-financed MICIN-UEFEDER-AEI)
- Temperature and antibiotics stress: effects on phage bacteria interactions in the gut microbiota of Blatella germanica (CIPROM/2021/042; Generalitat Valenciana).
- RNA communication across kingdoms: new mechanisms and strategies in pathogen control (exRNA-PATH, CA20110; COST action, EU)

Publicacions recents i seleccionades

Cazzaniga, M., R. Domínguez-Santos, J. Marín-Miret, R. Gil, A. Latorre, C. García-Ferris (2023). Exploring gut microbial dynamics and symbiotic interaction in Blattella germanica using rifampicin. Biology 12:955. doi: 10.3390/biology12070955

Latorre, A., R. Domínguez-Santos, C. García-Ferris, R. Gil (2022). Of cockroaches and symbionts: recent advances in the characterization of the relationship between Blattella germanica and its dual symbiotic system. Live 12: 290. doi: 10.3390/life12020290

Garzón, M.J., M. Reyes-Prieto, R Gil (2022). The minimal translation machinery: what we can learn from naturally and experimentally reduced genomes. Front. Microbiol. 13:858983. doi: 10.3389/fmicb.2022.858983

Solana, J., E. Garrote-Sánchez, R. Gil (2021). DELEAT: gene essentiality prediction and deletion design for bacterial genome reduction. BMC Bioinformatics 22:444. doi:10.1186/s12859-021-04348-5 doi: 10.1186/s12859-021-04348-5

Domínguez-Santos R, A.E. Pérez-Cobas, P. Cuti, V. Pérez-Brocal, C. García-Ferris, A. Moya, A. Latorre, R. Gil (2021). Interkingdom gut microbiome and resistome of the cockroach Blattella germanica. mSystems 6:e01213-20. doi: 10.1128/mSystems.01213-20

Reyes-Prieto, M., R. Gil, M. Llabrés, P. Palmer-Rodríguez, A. Moya (2021). The metabolic building blocks of a minimal cell. Biology 10:5. doi: 10.3390/biology10010005

Gil, R., A. Latorre (2019). Unity makes strength: a review on mutualistic symbiosis in representative insect clades. Life 9:21; doi:10.3390/life9010021.

Gil, R., C. Vargas-Chavez, S. López-Madrigal, D. Santos-García, A. Latorre, A. Moya (2018). Tremblaya phenacola PPER: An evolutionary beta-gammaproteobacterium collage. ISME J. 12:124-135. doi: 10.1038/ismej.2017.144

López-Madrigal, S., R. Gil (2017). Et tu, Brute? Not even intracellular mutualistic symbionts escape horizontal gene transfer. Genes 8:247. doi: 10.3390/genes8100247

Lloréns-Rico, V., J. Cano, T. Kamminga, R. Gil, A. Latorre, W. H. Chen, P. Bork, J. I. Glass, L. Serrano, M. Lluch-Senar (2016). Bacterial antisense RNAs are mainly the product of transcriptional noise. Sci. Adv. 2:e1501363. doi: 10.1126/sciadv.1501363

Klein, A., L. Schrader, R. Gil, A. Manzano-Marín, L. Flórez, D. Wheeler, J. H. Werren, A. Latorre, J. Heinze, M. Kaltenpoth, A. Moya, J. Oettler (2016). A novel intracellular mutualistic bacterium in the invasive ant Cardiocondyla obscurior. ISME J. 10:376-388. doi: 10.1038/ismej.2015.119

Gil, R., J. Peretó (2015). Small genomes and the difficulty to define minimal translation and metabolic machineries. Front. Ecol. Evol. 3:123. doi: 10.3389/fevo.2015.00123

López-Madrigal, S., A. Latorre, A. Moya, R. Gil (2015). The link between independent acquisition of intracellular gamma-endosymbionts and concerted evolution in Tremblaya princeps. Front. Microbiol. 6:642. doi: 10.3389/fmicb.2015.00642

Gil, R. (2014). The minimal gene-set machinery. In Encyclopedia of Molecular Cell Biology and Molecular Medicine: Synthetic Biology, 2nd edition. Meyers RA (ed.). Wiley-VCH Verlag GmbH & Co. pp. 1-36. doi: 10.1002/3527600906.mcb.20130079

López-Madrigal, S., A. Beltrà, S. Resurrección, A. Soto, A. Latorre, A. Moya, R. Gil (2014). Molecular evidence for ongoing complementarity and horizontal gene transfer in endosymbiotic systems of mealybugs. Front. Microbiol. 5:449. doi: 10.3389/fmicb.2014.00449

Oakeson, K. F.*, R. Gil*, A. L. Clayton, D. M. Dunn, A. C. von Niederhausern, C. Hamil, A. Aoyagi, B. Duval, A. Baca, F.J. Silva, A. Vallier, D. G. Jackson, A. Latorre, R. B. Weiss, A. Heddi, A. Moya, C. Dale (2014). Genome degeneration and adaptation in a nascent stage of symbiosis. Genome Biol. Evol. 6:76-93. doi: 10.1093/gbe/evt210 *Equal contribution.

López-Madrigal, S., A. Latorre, M. Porcar, A. Moya, R. Gil (2013). Mealybugs nested endosymbiosis: going into the ‘matryoshka’system in Planococcus citri in depth. BMC Microbiol. 13:74. doi: 10.1186/1471-2180-13-74

Moya, A., R. Gil, A. Latorre., J. Peretó, M.P. Garcillán-Barcia, F. de la Cruz (2009). Towards minimal bacterial cells: evolution versus design. FEMS Microbiol. Rev. 33:225-235. doi: 10.1111/j.1574-6976.2008.00151.x

Moya, A., J. Peretó, R. Gil, A. Latorre (2008). Learning how to live together: genomic insights into prokaryote-animal symbioses. Nature Rev. Genet. 9:218-229. doi:10.1038/nrg2319 

Tamames, J.*, R. Gil*, A. Latorre, J. Peretó, F.J. Silva, A. Moya (2006). The frontier between cell and organelle: genome analysis of Candidatus Carsonella ruddii. BMC Ecol. Evol. 7:181. doi: 10.1186/1471-2148-7-181 *Equal contribution.

T. Gabaldón, J. Peretó, F. Montero, R. Gil, A. Latorre, A. Moya (2007). Structural analyses of a hypothetical minimal metabolism. Phil. Trans. R. Soc. B. Biol. Sci. 362:1751-1762. doi:  10.1098/rstb.2007.2067

Pérez-Brocal, V., R. Gil, S. Ramos, A. Lamelas, M. Postigo, J. M. Michelena, F. J. Silva, A. Moya, A. Latorre (2006). A small microbial genome: the end of a long symbiotic relationship? Science 314:312-313. doi: 10.1126/science.1130441

Gil, R., F. J. Silva, J. Peretó, A. Moya (2004). Determination of the core of the minimal bacterial gene set. Microbiol. Mol. Biol. Rev. 68: 518-537. doi: 10.1128/MMBR.68.3.518-537.2004

Gil, R., B. Sabater-Muñoz, A. Latorre, F. J. Silva, A. Moya (2002). Extreme genome reduction in Buchnera spp.: towards the minimal genome needed for symbiotic life. Proc. Natl. Acad. Sci. USA 99: 4454-4458. doi: 10.1073/pnas.062067299

[Biografia, Vaig estudiar Biologia (1998-2003) i em vaig doctorar en Biologia a la Universitat de València (UV), Espanya, el 2009. Després del meu doctorat, vaig treballar com a investigador associat durant 14 anys al Departament de Genètica de la UV continuant amb la mateixa línia de recerca del meu doctorat. Finalment el 2023, vaig passar a la figura d'Ajudant Doctor a l'àrea de genètica. La meva investigació està associada a l'Institut de Biotecnologia i Biomedicina de la UV (Biotecmed). Els meus interessos de recerca actuals són: (a) estudiar el mode d'acció de les proteïnes de Bacillus thuringiensis (Bt); (b) estudiar el mecanisme de resposta dels diferents hostes després del desafiament amb proteïnes Bt; (c) i comprendre les bases bioquímiques i genètiques de la resistència de les plagues d'insectes agrícoles a les proteïnes Bt.versió en valencià]