Cristina Rodríguez Fontenla

Dr Cristina Rodríguez Fontenla is an accredited R3 researcher at CIMUS, University of Santiago de Compostela, and a member of IDIS. She obtained her PhD in 2013 (cum laude, Extraordinary Award in Medicine) and completed postdoctoral training at Institut Imagine (INSERM/Université de Paris), focusing on genomic studies of families with speech disorders.

Since joining CIMUS in 2017, her research has focused on the genetic architecture of neurodevelopmental disorders, particularly Autism Spectrum Disorder (ASD), integrating large-scale genomics with advanced bioinformatics and systems biology. Her work has been instrumental in characterising the contribution of both de novo germline and postzygotic mutations to ASD risk, identifying novel candidate genes and uncovering their functional impact across molecular pathways, gene regulation and brain-specific expression. She has also contributed to understanding the role of common genetic variation in ASD through transcriptome-wide and cross-tissue analyses, highlighting genes with potential causal roles.

Dr Rodríguez Fontenla has participated in major collaborative initiatives, including the Autism Sequencing Consortium and the Psychiatric Genomics Consortium, and is a member of CIBERER. Her research has been supported by competitive funding, including projects on the genetic basis of ASD, IMPaCT-Data 2—where she is group leader—and a Marie Skłodowska-Curie Fellowship at King’s College London.

She currently leads, as Principal Investigator, the project “Unravelling the role of mosaic mutations in Autism Spectrum Disorders through ultra-sequencing strategies” (PI24/00595; 2024–2027; €210,000), which aims to clarify the contribution of mosaic mutations to ASD using advanced sequencing approaches.

She has authored more than 25 peer-reviewed publications, primarily in high-impact journals, with over 1,100 citations and an h-index of 16, and has acted as corresponding author on several key papers. In addition, she supervises doctoral and master’s students, has undertaken international research stays (including at UCSF), and actively participates in training and scientific outreach activities.

Overall, her research integrates genomic variation, transcriptomic regulation and systems-level analyses to advance the understanding of ASD biology, with a strong translational focus on molecular diagnosis and precision medicine.