Man

Maria Gabriela Repetto Lisboa

Profesor Titular

FACULTAD DE MEDICINA CLINICA ALEMANA-UNIVERSIDAD DEL DESARROLLO

Santiago, Chile

Líneas de Investigación


Genetics and genomics of human diseases; Rare Diseases; chromosomal and monogenic disorders; congenital heart disease; cognitive disabilites; 22q11.2 microdeletion syndrome (velocardiofacial syndrome); cystic fibrosis; psychiatric disease

Educación

  •  Medical Doctor (MD), PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE. Chile, 1991
  •  Residency in Pediatrics, UNIVERSITY OF WISCONSIN-MADISON. Estados Unidos, 1995
  •  Fellowship in Genetics, Children´s Hospital- Boston. Estados Unidos, 1997

Experiencia Académica

  •   Assistant Professor Full Time

    PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

    Medicine

    Santiago, Chile

    1998 - 2002

  •   Associate Professor Full Time

    UNIVERSIDAD DEL DESARROLLO

    Medicine

    Santiago, Chile

    2003 - 2009

  •   Full Professor Full Time

    Clinica Alemana-Universidad del Desarrollo

    Medicina

    Santiago, Chile

    2009 - A la fecha

Experiencia Profesional

  •   Assistant Professor; Dept of Pediatrics Full Time

    P. Universidad Catolica de Chile

    Santiago, Chile

    1998 - 2003

  •   Director, Center for Genetics and Genomics Full Time

    Universidad del Desarrollo

    Santiago, Chile

    2003 - 2018

  •   Clinical Geneticist Part Time

    Hospital Padre Hurtado

    Santiago, Chile

    2003 - 2017

  •   Profesor Titular Full Time

    Universidad del Desarrollo

    Santiago, Chile

    2003 - A la fecha

  •   Clinical Geneticist Part Time

    Clinica Alemana

    Santiago, Chile

    2003 - A la fecha

  •   Director, Rare and Unknown Diseases Program Full Time

    Universidad del Desarrollo

    Santiago, Chile

    2018 - A la fecha

Formación de Capital Humano


At Facultad de Medicina, Clinica Alemana Universidad del Desarrollo

Undergraduate Medical Education
1. Director of Human Genetics Course, Medicine, 4th semester (2003-date) (20 weeks/year)
2. Co tutor, Genetics rotation during Pediatrics Internship, 11-12th semester
3. Co tutor, elective research projects for Medical Students. 3 students /year

Graduate Medical Education
1. Tutor, Genetics Rotation for Pediatric and Genetics Residents

Graduate Program, PhD in Medical Sciences
1. Participant/Lecturer in Human Genetics Course


Premios y Distinciones

  •   100 Mujeres Lideres

    DIARIO EL MERCURIO

    Chile, 2011

    Outstanding work in professional/academic fields

  •   Docente de Excelencia

    UNIVERSIDAD DEL DESARROLLO

    Chile, 2010

    Teaching Award to distinguished faculty

  •   Docente de Excelencia

    UNIVERSIDAD DEL DESARROLLO

    Chile, 2012

    Teaching award to distinguished faculty

  •   Best published article in 2019 General Category

    Sociedad de Pediatria de Chile

    Chile, 2020

    Premio mejores trabajos publicados en Revista Chilena de Pediatría (RChP), categoría GENERAL "Síndrome de Rett: análisis molecular del gen MECP2 en pacientes chilenas" de Aron C et al


 

Article (49)

Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome
Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
Human genetics and genomics meetings going virtual: practical lessons learned from two international meetings in early 2020
Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness
No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
Factores de riesgo socio-demográficos del síndrome cardiopulmonar por hantavirus
Rare diseases in Chile: challenges and recommendations in universal health coverage context
Rett Syndrome: MECP2 gene molecular analysis in Chilean patients
Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome
Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
Efficacy of gamification-based smartphone application for weight loss in overweight and obese adolescents: study protocol for a phase II randomized controlled trial
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the &ITGPR98&IT Locus on 5q14.3
Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson's disease
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome
Accuracy of a genetic test for the diagnosis of hypolactasia in chilean children: Comparison with the breath test
Molecular diagnosis in patients with retinoblastoma: Report of a series of cases.
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies
Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency
Effect of VKORC1 and CYP2C9 variants on dosage of oral anticoagulants in Chilean individuals
Genetic structure characterization of Chileans reflects historical immigration patterns
Genetic structure characterization of Chileans reflects historical immigration patterns.
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
Case fatality rate and associated factors in 22q11 microdeletion syndrome patients
Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study.
Secuenciación del gen CFTR en un grupo de pacientes chilenos con fibrosis quística
The genetic basis of DOORS syndrome: an exome-sequencing study
Angiotensin-converting enzyme insertion/deletion polymorphism is associated with severe hypoxemia in pediatric ARDS
De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome
Diagnóstico de intolerancia a la lactosa en adultos: rendimiento comparativo de la clínica, test de hidrógeno espirado y test genético
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
Growth in Chilean infants with chromosome 22q11 microdeletion syndrome
Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome
Pathogenesis of preeclampsia: The genetic component
Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations
Genetic Defects in Human Pericentrin are Associated with Severe Insulin Resistance and Diabetes Mellitus
Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients
Genetic Modifiers of Liver Disease in Cystic Fibrosis
Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results
VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/ Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain [6]
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telanglectasia associated with mutations in MADH4 (SMAD4)

BookSection (5)

Rare Diseases: Genomics and Public Health
Congenital malformation syndromes
Genética y Perinatología
Aproximación Genética a las Enfermedades Pulmonares
Fibrosis Quística

Proyecto (8)

“Solving the unsolved”: an interdisciplinary evaluation of personal, social and health system effects of the use of genomic strategies for rare undiagnosed disorders
Development of novel imaging techniques to study the brain in severe mental health disorders
Advancing discoveries on Rare Disorders through International Collaboration
Manifestaciones prodrómicas de la Enfermedad de Parkinson en un grupo de alto riesgo=> personas con síndrome de microdeleción 22q11.2
A connectomic neuroimaging study of the 22q11 deletion syndrome=> a window into schizophrenia and its genetic causes
Chromosome 22q11.2 microdeletion syndrome=> a window into understanding developmental diseases of the heart and brain.
Anomalías congénitas y trastornos del desarrollo=> E valuación de costo-efectividad de las nuevas herramientas dia gnósticas.
International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome (Genomic Risk and Resilience in 22q11 Deletion Syndrome=> A Window into the Genetic Architecture of Mental Disorders)

Review (1)

Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency
45
Maria Repetto

Profesor Titular

Center for Genetics and Genomics

FACULTAD DE MEDICINA CLINICA ALEMANA-UNIVERSIDAD DEL DESARROLLO

Santiago, Chile

4
Guillermo Lay-Son

PROFESOR ASISTENTE

CENTRO DE GENÉTICA Y GENÓMICA

UNIVERSIDAD DEL DESARROLLO

Santiago, Chile

3
Juan Calderon

Investigador

Facultad de Medicina

Universidad del Desarrollo

Santiago, Chile

2
Maria Vial

Associate Professor/Profesor Asociado

Instituto de Ciencias e Innovación de Medicina

UNIVERSIDAD DEL DESARROLLO

Santiago, Chile

2
Luis Leon

Director of Bioinformatics

R&D

Genoma Mayor SpA

Santiago, Chile

2
Carla Castillo

Assistant Professor

Centro de Epidemiología y Políticas de Salud / Center of Epidemiology and Health Policy

Universidad del Desarrollo

Santiago, Chile

1
Yalda Lucero

Profesor Asistente

Programa de Microbiología y Micología; Departamento de Pediatría y Cirugía infantil;

DIVISIÓN NORTE, FACULTAD DE MEDICINA, UNIVERSIDAD DE CHILE, DEPARTAMENTO DE PEDIATRÍA Y CIRUGÍA INFANTIL-HOSPITAL LUIS CALVO MACKENNA

Santiago, Chile

1
Ximena Aguilera

Full Professor; Director Centro de Epidemiología y Políticas de Salud /Center of Epidemiology and Health Policy

Centro de Epidemiología y Políticas de Salud (CEPS)/ Center of Epidemiology and Health Policy/Centro de Epidemiología y Políticas de Salud (CEPS)

Universidad del Desarrollo

Santiago, Chile

1
Rosemarie Fritsch

UNIVERSIDAD DE CHILE

Santiago, Chile

1
Benjamín Erranz

Investigador-Docente

Instituto de Ciencias e Innovación en Medicina

Universidad del Desarrollo

Santiago, Chile

1
Susanne Kramer

Profesor Asistente

Departamento del Niño y Ortopedia Dentomaxilar

Universidad de Chile

Santiago, Chile

1
ANDRES KLEIN

Assistant Professor/Director (Head) Center for Genetics and Genomics; Director, PhD Program in Sciences and Innovation in Medicine

Centro de Genética y Genómica

Universidad del Desarrollo-Clínica Alemana

SANTIAGO, Chile

1
Marta Arriaza

Medico staff

Pediatría

Hospital Dr. Gustavo Fricke

Viña del Mar, Chile

1
Cesar Carvajal

Socio

ACQ

Santiago, Chile

1
Sebastián Illanes

professor, Director of Reproductive Biology Laboratory

Medicine

UNIVERSIDAD DE LOS ANDES

Santiago, Chile

1
Grazielle Ribeiro

PhD candidate

Medicina

Universidad del Desarrollo- UDD

Santiago, Chile

1
Francisco Valenzuela

Academico

Ciencias Básicas

UNIVERSIDAD DEL BÍO BÍO

Chillan, Chile

1
Orozimba Delgado

Profesor Asociado

Facultad de Medicina Clinica Alemana Universidad del Desarrollo

UNIVERSIDAD DEL DESARROLLO

Santiago, Chile

1
Cristian Carvajal

Associate Professor

Endocrinologia

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

1
Franco Diaz

Residente

Pediatría

Hospital El Carmen de Maipú

Santiago, Chile

1
Pablo Cruces

MEDICO RESIDENTE

PEDIATRIA

HOSPITAL EL CARMEN DE MAIPU

SANTIAGO, Chile

1
KAREN DUBOIS

Postdoctoral fellow Fondef IDeA ID17I10064 IDI17

Instituto de Ciencias Biomédicas

Universidad de Chile

Santiago, Chile

1
Juan Lecaros

Associate professor

Observatory of Bioethics and Law

Universidad del Desarrollo

Santiago, Chile

1
Teresa Aravena

Profesor asistente

Medicina

UNIVERSIDAD DE CHILE

santiago, Chile