PERSONAL INFORMATION
ORCID:https://orcid.org/0000-0002-9829-6393
Twitter:@CristinaFonten
Mail:mariacristina.rodriguez.fontenla@usc.es
EDUCATION
Biology Degree, orientation Molecular biology and Biotechnology
University of Santiago de Compostela, Spain-2007
PhD in Molecular Medicine (Sobresaliente cum laude, Extraordinary Medicine Award)- 2013
CURRENT POSITION(S)
2017-Junior PI / Genomic Medicine Group (GMX)/Faculty of Medicine, University of Santiago de Compostela
CAREER
Cristina’s research career has been marked by a strong focus on the genetic basis of complex disorders, with significant contributions to osteoarthritis (OA) and neurodevelopmental disorders (NDDs).
Cristina has carried out her PhD, thanks to a Xunta de Galicia predoctoral grant (2007) and to a competitive PFIS contract, (Ministry of Health, ISCIII)(2008). Her doctoral research, which earned her a Sobresaliente cum laude distinction and the Extraordinary Medicine Award, was focused on understanding the genetic basis of OA. During this period, Cristina played a key role in global research efforts, collaborating with the arcOGEN Consortium participating in the top worldwide studies at the moment. Later, she obtained a competitive postdoctoral Marie Curie IF (2015)(King's College London) and she did a postdoctoral stay at the Neurodevelopmental Disorders Lab of the Institut Imagine, INSERM/Université de Paris, France.
Since 2017, Cristina has been a part of the Genomic Medicine Group at the CIMUS, University of Santiago de Compostela, where she is currently a Junior PI.The research lines that she led are focused on the discovery of risk genes in NDDs, mainly in ASD, using sequencing data (NGS) and mining them using bioinformatic tools, to identify new risk genes and characterize the underlying molecular and cellular processes. Her long career and expertise in genetics has led her to establish a strong network of national and international collaborators as the ASC (Autism Sequencing Consortium) and the PGC (Psychiatric Genomics Consortium)
Cristina has enhanced her expertise through advanced training, such as the Human Population Genomics course at the Institut Pasteur (2018). She has also been an invited speaker at prestigious international conferences, including the International Congresses of Rheumatology (OARSI, EULAR), the Genomics of Brain Disorders Congress at the Wellcome Trust (Cambridge, UK), and the Non-Coding Genome Course at Institut Curie (2021), among others.
Cristina has actively contributed to education and mentoring, having directed 3 Ph.D. and 4 Master’ s students. Since 2018, she has also served as a tutor for the StemBach program at the University of Santiago de Compostela. This program aims to foster interest in science, technology, engineering, and mathematics (STEM) among high school students by providing advanced educational experiences and research opportunities. Through her involvement in StemBach, Cristina helps inspire and guide young students in exploring scientific research, encouraging them to pursue careers in STEM fields.
RESEARCH LINES
Cristina;s research is focused on the discovery of novel risk genes in NDDs, mainly in ASD , using genetic and functional data (transcriptomic) and mining them using bioinformatic tools, to characterize the underlying molecular and cellular processes. Her group's research spans three main lines:
-Discovering the role of the 3D (three-dimensional) genome in ASD etiology.
-Unraveling the role of mosaic mutations in ASD through ultra sequencing strategies and functional studies in animal models -Studying the role of the non-coding genome in ASD.
GROUP
Aitana Alonso-Gonzalez, Sara Dominguez-Alonso (past PhDs)
Pablo Carballo-Pacoret (current PhD)
Virginia Sestelo-Prado (research internship)
PROJECTS
1.Project.PI24/00595. ISCIII.Role.PI. Unraveling the role of mosaic mutations in ASD (Autism Spectrum Disorders) through ultra sequencing strategies. 132.773,79 €
1.Project. PI22/00208. ISCIII.Role: Collaborator.Head of the genetics work package. Unravelling ASD aetiology. 3D genome and functional studies. PI:Angel Carracedo Alvarez. Instituto de Salud Carlos III. University of Santiago de Compostela).256.520€.01/01/2023-01/01/2026.Researcher.
3.Project. PI19/00809.ISCIII. Role: Collaborator.Head of the genetics work package. Comprehensive and translational approach for ASD diagnosis: genetic and functional assessment. Instituto de Salud Carlos III.
PI: Angel Carracedo Alvarez. (University of Santiago de Compostela). 01/01/2020-01/01/2023. 207.515 €.
RELEVANT PUBLICATIONS
1.Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs). Carballo-Pacoret P, Carracedo A, Rodriguez-Fontenla C. Neurogenetics. 2024 Aug 27. doi: 10.1007/s10048-024-00774-8. Online ahead of print. PMID: 39190242 Review.
2.Genome-wide association study identifies 30 obsessive-compulsive disorder associated loci.
Strom NI, Gerring ZF, Galimberti M, Yu D, Halvorsen MW, Abdellaoui A, Rodriguez-Fontenla C, Sealock JM, Bigdeli T, Coleman JR, Mahjani B, Thorp JG, Bey K, Burton CL, Luykx JJ, Zai G, Alemany S, Andre C, Askland KD, Banaj N, Barlassina C, Nissen JB, Bienvenu OJ, Black D, Bloch MH, Boberg J, Børte S, Bosch R, Breen M, Brennan BP, Brentani H, Buxbaum JD, Bybjerg-Grauholm J, Byrne EM, Cabana-Dominguez J, Camarena B, Camarena A, Cappi C, Carracedo A, Casas M, Cavallini MC, Ciullo V, Cook EH, Crosby J, Cullen BA, De Schipper EJ, Delorme R, Djurovic S, Elias JA, Estivill X, Falkenstein MJ, Fundin BT, Garner L, German C, Gironda C, Goes FS, Grados MA, Grove J, Guo W, Haavik J, Hagen K, Harrington K, Havdahl A, Höffler KD, Hounie AG, Hucks D, Hultman C, Janecka M, Jenike E, Karlsson EK, Kelley K, Klawohn J, Krasnow JE, Krebs K, Lange C, Lanzagorta N, Levey D, Lindblad-Toh K, Macciardi F, Maher B, Mathes B, McArthur E, McGregor N, McLaughlin NC, Meier S, Miguel EC, Mulhern M, Nestadt PS, Nurmi EL, O'Connell KS, Osiecki L, Ousdal OT, Palviainen T, Pedersen NL, Piras F, Piras F, Potluri S, Rabionet R, Ramirez A, Rauch S, Reichenberg A, Riddle MA, Ripke S, Rosário MC, Sampaio AS, Schiele MA, Skogholt AH, Sloofman LGSG, Smit J, Soler AM, Thomas LF, Tifft E, Vallada H, van Kirk N, Veenstra-VanderWeele J, Vulink NN, Walker CP, Wang Y, Wendland JR, Winsvold BS, Yao Y, Zhou H; 23andMe
Research Team; VA Million Veteran Program, Estonian Biobank; CoGa research team; iPSYCH, HUNT research team; NORDiC research team; Agrawal A, Alonso P, Berberich G, Bucholz KK, Bulik CM, Cath D, Denys D, Eapen V, Edenberg H, Falkai P, Fernandez TV, Fyer AJ, Gaziano JM, Geller DA, Grabe HJ, Greenberg BD, Hanna GL, Hickie IB, Hougaard DM, Kathmann N, Kennedy J, Lai D, Landén M, Le Hellard S, Leboyer M, Lochner C, McCracken JT, Medland SE, Mortensen PB, Neale BM, Nicolini H, Nordentoft M, Pato M, Pato C, Pauls DL, Piacentini J, Pittenger C, Posthuma D, Ramos-Quiroga JA, Rasmussen SA, Richter MA, Rosenberg DR, Ruhrmann S, Samuels JF, Sandin S, Sandor P, Spalletta G, Stein DJ, Stewart SE, Storch EA, Stranger BE, Turiel M, Werge T, Andreassen OA, Børglum AD, Walitza S, Hveem K, Hansen BK, Rück CP, Martin NG, Milani L, Mors O, Reichborn-Kjennerud T, Ribasés M, Kvale G, Mataix- Cols D, Domschke K, Grünblatt E, Wagner M, Zwart JA, Breen G, Nestadt G, Kaprio J, Arnold PD, Grice DE, Knowles JA, Ask H, Verweij KJ, Davis LK, Smit DJ, Crowley JJ, Scharf JM, Stein MB, Gelernter J, Mathews CA, Derks EM, Mattheisen M. medRxiv [Preprint]. 2024 Mar 13:2024.03.13.24304161. doi: 10.1101/2024.03.13.24304161.
PMID: 38712091 Free PMC article. Preprint.
3.eQTL colocalization analysis highlights novel susceptibility genes in Autism Spectrum Disorders (ASD).
Dominguez-Alonso S, Carracedo A, Rodriguez-Fontenla C.
Transl Psychiatry. 2023 Oct 31;13(1):336. doi: 10.1038/s41398-023-02621-0.
PMID: 37907504 Free PMC article.
4.The non-coding genome in Autism Spectrum Disorders.
Dominguez-Alonso S, Carracedo A, Rodriguez-Fontenla C.
Eur J Med Genet. 2023 Jun;66(6):104752. doi: 10.1016/j.ejmg.2023.104752. Epub 2023 Apr 5.
PMID: 37023975 Review.
5.UTMOST, a single and cross-tissue TWAS (Transcriptome Wide Association Study), reveals new ASD (Autism Spectrum Disorder) associated genes.
Rodriguez-Fontenla C, Carracedo A. Transl Psychiatry. 2021 Apr 30;11(1):256. doi: 10.1038/s41398-021-01378-8.
PMID: 33931583 Free PMC article.
6.Exploring the biological role of postzygotic and germinal de novo mutations in ASD.
Alonso-Gonzalez A, Calaza M, Amigo J, González-Peñas J, Martínez-Regueiro R, Fernández-Prieto M,
Parellada M, Arango C, Rodriguez-Fontenla C, Carracedo A.
Sci Rep. 2021 Jan 11;11(1):319. doi: 10.1038/s41598-020-79412-w.
PMID: 33431980 Free PMC article.
7.Psychiatric comorbidities in Asperger syndrome are related with polygenic overlap and differ from other Autism subtypes.
González-Peñas J, Costas JC, García-Alcón A, Penzol MJ, Rodríguez J, Rodríguez-Fontenla C, Alonso-
González A, Fernández-Prieto M, Carracedo Á, Arango C, Parellada M.
Transl Psychiatry. 2020 Jul 30;10(1):258. doi: 10.1038/s41398-020-00939-7.
PMID: 32732888 Free PMC article.
