Javier González-Peñas (0000-0002-3850-3012)

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Biography

Javier González Peñas, M.Sc, PhD, holds a degree in Chemistry (2009, University of Santiago de Compostela (USC), awarded the End of Degree Prize), a master's degree in Biotechnology (2011, USC), a master's degree in Bioinformatics (2020, National School of Public Health, ISCIII), and a PhD in Molecular Medicine (2016, USC) with a focus on psychiatric genetics. Additionally, he has conducted research at the Psychiatric Institute of the State of New York (Columbia University, USA). Since October 2016, he has served as a postdoctoral researcher at the Institute of Psychiatry and Mental Health of the General University Hospital Gregorio Marañón (HGUGM), and since 2019 at the Spanish Network for Mental Health Biomedical Research (CIBERSAM). He has acquired state-of-the-art skills in analyzing and interpreting complex genetic data derived from various sources, including whole exome sequencing (WES), RNA sequencing (RNA-seq), whole-genome genotyping arrays, whole-genome methylation, human evolutionary markers, and gene-environment interaction (GxE) studies, among others. These technical and scientific capabilities have played a crucial role in the successful development of his independent research lines: the investigation of genetic heterogeneity in complex psychiatric disorders and the environmental modulation of their genetic architecture. These research lines have been developed based on hypotheses involving the existence of dynamic genetic susceptibility to psychiatric disorders throughout neurodevelopment, the presence of different biological subtypes within the framework of psychiatric diagnoses, and the involvement of complex structures in gene-environment interaction (GxE).

He has demonstrated a remarkable ability to secure funding to support his research endeavors: he has been funded through competitive personal grants (including a Sara Borrell Postdoctoral fellowship in 2020) and has participated in 17 national and international R&D projects (one as PI, 14 as a team member, and 2 as an external collaborator). In these projects, he has played a leadership role, significantly contributing to the acquisition of funding and the achievement of the proposed goals. He has co-authored 56 scientific publications (10 as first or corresponding last author) in ISI journals, including Nature, Nature Genetics, Cell, Nature Neuroscience, or Translational Psychiatry, among others, garnering up to 4,801 citations (4,696 since 2019). He has contributed to 1 book chapter. He has presented the findings of his research in 24 scientific congress presentations, noteworthy for his participation as a discussant or invited speaker on 6 occasions. The social impact of his work led to his involvement in various outreach activities, including interviews with TVE, Telemadrid, and Cadena SER, contributions to dissemination podcasts, and informative articles in medical journals.

Currently, he heads the psychiatric genetics laboratory at the HGUGM, overseeing an independent team of five members (including one postdoc, one Ph.D. student, and two M.Sc.). He has cultivated an extensive scientific network with both national and international collaborators. He is a collaborating member in international leading consortia, including the Psychiatric Genomics Consortium (PGC), the European network for the study of Gene-Environment interaction in schizophrenia (EU-GEI), and the Autism Sequencing Consortium (ASC). Notably, he has established and manages the CIBERSAM - schizophrenia platform for the utilization of genetic data generated in international projects, fueling numerous active collaborations. Engaged in educational activities, he has organized two editions of the mental health genetics course for the Spanish Society of Biological Psychiatry (SEPB; 2019 and 2023) and numerous departmental seminars. He has supervised three doctoral theses (2022, 2023, and one ongoing), three master's theses (2020, 2023, and 2023), and one bachelor's thesis (2022). These former students have secured stable research positions abroad or are employed in related industries. In addition to his mentoring roles, he has contributed as a reviewer for esteemed journals, including Nature Communications, Biological Psychiatry, and Schizophrenia Bulletin.

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Hospital General Universitario Gregorio Marañón: Madrid, Madrid, ES

2016-10-01 to present | Post-Doctoral researcher (Child and Adolescent Psychiatry Department)

Employment

Javier González-Peñas

https://orcid.org/0000-0002-3850-3012

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Employment (3)

Hospital General Universitario Gregorio Marañón: Madrid, Madrid, ES

Instituto de Investigación Sanitaria de Santiago: Santiago de Compostela, Galicia, ES

New York State Psychiatric Institute: New York, NY, US

Education and qualifications (4)

Escuela Nacional de Sanidad: Madrid, Madrid, ES

Universidade de Santiago de Compostela: Santiago de Compostela, Galicia, ES

Universidade de Santiago de Compostela: Santiago de Compostela, Galicia, ES

Universidade de Santiago de Compostela: Santiago de Compostela, Galicia, ES

Professional activities (3)

Fundación Pedro Barrié de la Maza: A Coruna, Galicia, ES

Xunta de Galicia: Santiago de Compostela, Galicia, ES

Universidade de Santiago de Compostela: Santiago de Compostela, Galicia, ES

Funding (2)

Sara Borrell post-doctoral fellowship

Predoctoral fellowship

Works (50 of 51)

Accelerated Cortical Thinning in Schizophrenia is Associated With Rare and Common Predisposing Variation to Schizophrenia and Neurodevelopmental Disorders

<i>HLA‐A*11:01</i> and <i>HLA‐C*04:01</i> are associated with severe <scp>COVID</scp>‐19

Correction: Common genetic variants contribute to heritability of age at onset of schizophrenia

Clustering Schizophrenia Genes by Their Temporal Expression Patterns Aids Functional Interpretation

Common genetic variants contribute to heritability of age at onset of schizophrenia

Examining the association between exposome score for schizophrenia and cognition in schizophrenia, siblings, and healthy controls: Results from the EUGEI study

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Validation of the Collaborative Outcomes study on Health and Functioning during Infection Times (COH-FIT) questionnaire for adults

Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

Role of cortical excitatory/inhibitory imbalance in autism spectrum disorders from a symptom severity trajectories framework: a study protocol

Analysis of common genetic variation across targets of microRNAs dysregulated both in ASD and epilepsy reveals negative correlation

Oxytocin Exposure in Labor and its Relationship with Cognitive Impairment and the Genetic Architecture of Autism

Novel genes and sex differences in COVID-19 severity

The association between cannabis use and facial emotion recognition in schizophrenia, siblings, and healthy controls: Results from the EUGEI study

Metabolic polygenic risk scores effect on antipsychotic-induced metabolic dysregulation: A longitudinal study in a first episode psychosis cohort

The role of BDNF and NGF plasma levels in first-episode schizophrenia: A longitudinal study

Gene co-expression architecture in peripheral blood in a cohort of remitted first-episode schizophrenia patients

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Rare coding variants in ten genes confer substantial risk for schizophrenia

Genetic variants associated with longitudinal changes in brain structure across the lifespan.

Physical and mental health impact of COVID-19 on children, adolescents, and their families: The Collaborative Outcomes study on Health and Functioning during Infection Times - Children and Adolescents (COH-FIT-C&amp;A)

The collaborative outcomes study on health and functioning during infection times in adults (COH-FIT-Adults): Design and methods of an international online survey targeting physical and mental health effects of the COVID-19 pandemic

A polygenic approach to the association between smoking and schizophrenia

An exploratory analysis of parental autism traits, age at conception and polygenic background in Autism Spectrum Disorders

A longitudinal study of gene expression in first-episode schizophrenia; exploring relapse mechanisms by co-expression analysis in peripheral blood

Examining facial emotion recognition as an intermediate phenotype for psychosis: Findings from the EUGEI study

Characterisation of the clinical phenotype in Phelan-McDermid syndrome

Examining the association between exposome score for schizophrenia and functioning in schizophrenia, siblings, and healthy controls: Results from the EUGEI study.

Study of the pathophysiological mechanisms associated with the onset and course of neurodevelopmental disorders in preterm infants (the PeriSTRESS-PremTEA study): Rationale, objectives, design and sample description.

Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings.

Examining the independent and joint effects of genomic and exposomic liabilities for schizophrenia across the psychosis spectrum.

Evidence, and replication thereof, that molecular-genetic and environmental risks for psychosis impact through an affective pathway.

A replication study of JTC bias, genetic liability for psychosis and delusional ideation.

Psychiatric comorbidities in Asperger syndrome are related with polygenic overlap and differ from other Autism subtypes

Examining Gene-Environment Interactions Using Aggregate Scores in a First-Episode Psychosis Cohort.

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia.

Personalized medicine begins with the phenotype: identifying antipsychotic response phenotypes in a first-episode psychosis cohort.

White Noise Speech Illusions: A Trait-Dependent Risk Marker for Psychotic Disorder?

Estimating Exposome Score for Schizophrenia Using Predictive Modeling Approach in Two Independent Samples: The Results From the EUGEI Study.

Replicated evidence that endophenotypic expression of schizophrenia polygenic risk is greater in healthy siblings of patients compared to controls, suggesting gene-environment interaction. The EUGEI study.

Premorbid Adjustment and IQ in Patients With First-Episode Psychosis: A Multisite Case-Control Study of Their Relationship With Cannabis Use.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Examining the independent and joint effects of molecular genetic liability and environmental exposures in schizophrenia: results from the EUGEI study.

The contribution of cannabis use to variation in the incidence of psychotic disorder across Europe (EU-GEI): a multicentre case-control study.

Enrichment of rare genetic variants in astrocyte gene enriched co-expression modules altered in postmortem brain samples of schizophrenia.

Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare functional variants at chromatin repressive states.

Cumulative role of rare and common putative functional genetic variants at NPAS3 in schizophrenia susceptibility.

Absence of low frequency variants associated with schizophrenia at the ultraconserved non-coding region of TCF4.

Peer review (6 reviews for 5 publications/grants)

<i>HLA‐A11:01</i> and <i>HLA‐C04:01</i> are associated with severe <scp>COVID</scp>‐19

Physical and mental health impact of COVID-19 on children, adolescents, and their families: The Collaborative Outcomes study on Health and Functioning during Infection Times - Children and Adolescents (COH-FIT-C&A)