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Eduardo Esteban Pérez Palma

Profesor Investigador

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, 2010

Experiencia Académica

  •   Assintant Teacher Part Time

    UNIVERSIDAD ANDRES BELLO

    Biological sciences

    Santiago, Chile

    2010 - 2011

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


 

Article (29)

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis
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

Proyecto (8)

EXPANDIENDO EL ANÁLISIS GENÓMICO EN PACIENTES PEDIÁTRICOS CON EPILEPSIAS REFRACTARIAS DE CAUSA NO PRECISADA
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
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
32
Eduardo Pérez

Profesor Investigador

Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana

Universidad del Desarrollo

Santiago, Chile

3
Klaus Puschel

Full Professor

Family Medicine

FACULTAD MEDICINA PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, Chile

3
Giancarlo De Ferrari

Full Professor

Biological Sciences

UNIVERSIDAD ANDRES BELLO

Santiago, Chile

2
Rodrigo Gutierrez

Full Professor

Molecular Genetics & Microbiology

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

2
Miguel Avila

Docente/Investigador

Universidad de las Américas

Santiago, Chile

1
JOSE SANTOS

Full Professor

Department of Nutrition, Diabetes and Metabolism

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, 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

Associate Professor

Unidad de Nutrición Básica

UNIVERSIDAD DE CHILE - INTA

Santiago, Chile

1
Mabel Vidal

Estudiante de doctorado

Ciencias de la Computación

Universidad de Concepción

Concepcion, Chile

1
Dante Travisany

Scientist

CMM

Universidad de Chile

Santiago, Chile

1
Mauricio Gonzalez

Profesor Titular

INTA

UNIVERSIDAD DE CHILE - INSTITUTO DE NUTRICION Y TECNOLOGIA DE ALIMENTOS

Santiago, Chile

1
Claudia Muñoz

Investigadora

Biotecnología

Instituto de Investigaciones Agropecuarias INIA-La Platina

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

Assistant professor

Engineering sciences

Universidad de O'Higgins

Rancagua, Chile

1
Ariel Reyes

Director de Departamento

Ciencias Biológicas

UNIVERSIDAD ANDRÉS BELLO

Santiago, Chile

1
Pedro Chana

Profesor Titular

Facultad de Ciencias Medicas

Universidad de Santiago

Santiago, Chile

1
CLAUDIA BAMBS

PROFESORA ASOCIADA

SALUD PÚBLICA

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile