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Eduardo Esteban Pérez Palma

Profesor Investigador Asociado

Universidad del Desarrollo

Santiago, Chile

Líneas de Investigación


The genetics behind epilepsy and neurodevelopmental disorders. Understand disease presentation and predict prognosis. Develop methods and tools for variant interpretation. Build bridges between novel genetic knowledge and clinical practice.

Educación

  •  Human genetics, Bioinformatics, UNIVERSIDAD ANDRES BELLO. Chile, 2017
  •  Bioengineering, UNIVERSIDAD DE CONCEPCION. Chile, 2011

Experiencia Académica

  •   Assintant Teacher Part Time

    UNIVERSIDAD ANDRES BELLO

    Biological sciences

    Santiago, Chile

    2010 - 2011

  •   Profesor Asociado Full Time

    Universidad del Desarrollo

    Facultad de Medicina Clinica Alemana

    Santiago de Chile, Chile

    2021 - At present

Experiencia Profesional

  •   Postdoctoral Fellow Full Time

    University of Cologne

    Cologne, Alemania

    2017 - 2019

  •   Tesista de doctorado Full Time

    FONDAP Center for Genome Regulation (CRG 15090007)

    Santiago, Chile

    2013 - 2016

  •   Research associate Full Time

    Cleveland Clinic

    Cleveland, Estados Unidos

    2019 - 2020

  •   Profesor Investigador Asociado Full Time

    Universidad del Desarrollo

    Santiago de Chile, Chile

    2021 - At present


 

Article (44)

CNV-ClinViewer: Enhancing the clinical interpretation of large copy-number variants online
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
Data-driven historical characterization of epilepsy-associated genes
Delineation of functionally essential protein regions for 242 neurodevelopmental genes
Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies
Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies
Gene variant effects across sodium channelopathies predict function and guide precision therapy
Incidence and prevalence of major epilepsy-associated brain lesions
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis
SimText: a text mining framework for interactive analysis and visualization of similarities among biomedical entities
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants
Copy number variants in lipid metabolism genes are associated with gallstones disease in men
Current knowledge of SLC6A1-related neurodevelopmental disorders
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients
Identification of pathogenic variant enriched regions across genes and gene families
MISCAST: MIssense variant to protein StruCture Analysis web SuiTe
Polygenic risk heterogeneity among focal epilepsies
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization
The role of sodium channels in sudden unexpected death in pediatrics
Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies
Assessment of genetic variant burden in epilepsy-associated brain lesions
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database
Spectrum of GABA(A) receptor variants in epilepsy
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region
Variant Score Ranker-a web application for intuitive missense variant prioritization
Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry
Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans
Duplications at 19q13.33 in patients with neurodevelopmental disorders
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
Early Transcriptional Changes Induced by Wnt/ ? -Catenin Signaling in Hippocampal Neurons
Overrepresentation of Glutamate Signaling in Alzheimer's Disease: Network-Based Pathway Enrichment Using Meta-Analysis of Genome-Wide Association Studies
Wnt/?-catenin signaling in Alzheimer's disease
A novel functional low-density lipoprotein receptor-related protein 6 gene alternative splice variant is associated with Alzheimer's disease

BookSection (1)

Copy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders

Proyecto (9)

Identification of common and rare genomic factors in Chilean epilepsy patients
Genética en Epilepsia: Caracterización de variantes genéticas raras y comunes en pacientes Chilenos con epilepsias y encefalopatías epilépticas del desarrollo
Integrating clinical and genetic variables to model SCN2A variant pathogenicity and outcomes
Proyecto de investigación Clinica Alemana. “Expandiendo el análisis genómico en pacientes pediátricos con epilepsias refractarias de causa no precisada”
A Novel System to evaluate SCN1A Pathogenicity
MODULACION DE LA ACTIVIDAD TRANSCRIPCIONAL DE GENES COMUNMENTE TRANSLOCADOS EN LEUCEMIA POR LA VIA DE SEÑALIZACION WNT/BETA-CATENINA
Identification of genetic and metabolic risk factors of gallstone disease in the Chilean population and development of novel strategies for primary prevention
Center for Genome Regulation (CRG)
Identification and characterization of functional common genetic variants affecting Wnt signaling by integrative molecular genomics
49
Eduardo Pérez

Profesor Investigador Asociado

Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana

Universidad del Desarrollo

Santiago, Chile

3
Giancarlo De Ferrari

Full Professor

Biological Sciences

UNIVERSIDAD ANDRES BELLO

Santiago, Chile

3
Klaus Puschel

Full Professor

Family Medicine

FACULTAD MEDICINA PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, Chile

3
Matías Medina

Docente

Ciencias

Universidad San Sebastián

Puerto Montt, Chile

3
Miguel Ávila

Docente/Investigador

Universidad de las Américas

Santiago, Chile

2
Eleodoro Riveras

Investigador postdoctoral

Instituto de Biologia Integrativa, Ibio

Santiago, Chile

2
Rodrigo Gutierrez

Full Professor

Molecular Genetics & Microbiology

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

1
Claudia Muñoz

Investigadora

Biotecnología

Instituto de Investigaciones Agropecuarias INIA-La Platina

Santiago, Chile

1
Mabel Vidal

Directora Magíster en Data Science

Universidad San Sebastián

Concepcion, Chile

1
Miguel Allende

Director

Biología

FACULTAD DE CIENCIAS, UNIVERSIDAD DE CHILE

Santiago, Chile

1
Angelica Reyes

Profesor Asociado

INTA UNIVERSIDAD DE CHILE

Santiago, Chile

1
Veronica Cambiazo

Profesora titular

Unidad de Nutrición Básica

UNIVERSIDAD DE CHILE - INTA

Santiago, Chile

1
JOSE SANTOS

Full Professor

Department of Nutrition, Diabetes and Metabolism

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, Chile

1
CLAUDIA BAMBS

PROFESORA ASOCIADA

SALUD PÚBLICA

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

1
Mauricio Gonzalez

Profesor Titular

INTA

UNIVERSIDAD DE CHILE - INSTITUTO DE NUTRICION Y TECNOLOGIA DE ALIMENTOS

Santiago, Chile

1
Pedro Chana Cuevas

Profesor Titular

Facultad de Ciencias Medicas

Universidad de Santiago

Santiago, Chile

1
Susana Eyheramendy

Full Professor

Universidad Adolfo Ibánez

Santiago, Chile

1
Mauricio Moraga

Profesor Asociado

Programa de Genética Humana

FACULTAD DE MEDICINA, UNIVERSIDAD DE CHILE

SANTIAGO, Chile

1
Ariel Orellana

Profesor Titular

Centro de Biotecnologia Vegetal

UNIVERSIDAD ANDRES BELLO

Santiago, Chile

1
Martín Montecino

Director

Institute of Biomedical Sciences

UNIVERSIDAD ANDRES BELLO

Santiago, Chile

1
Christian Hodar

ASSISTANT PROFESSOR

BIOINFORMATICS & GENEXPRESSION LAB - INTA

UNIVERSIDAD DE CHILE

Santiago, Chile

1
Alex Di Genova

Associate professor

Engineering sciences

Universidad de O'Higgins

Rancagua, Chile

1
Carol Moraga

Assistant professor

Instituto Ciencias de la Ingeniería

Universidad de O'Higgins

Rancagua, Chile

1
Elena Vidal

Directora Programas de Doctorado

Centro de Genomica y Bioinformatica

Universidad Mayor de Chile

Santiago, Chile

1
Ariel Reyes

Director de Departamento

Ciencias Biológicas

UNIVERSIDAD ANDRÉS BELLO

Santiago, Chile

1
Juan Roa

Chair

Pathology

Pontificia Universidad Catolica de Chile

santiago, Chile

1
Dante Travisany

Profesor Asociado

Facultad de Ingeniería y Negocios

Universidad de Las Américas

Santiago, Chile