About us

Genunio is a research group recognized by the Minister of Science, Technology and Innovation (MinCiencias) of Colombia, focused on the development of new knowledge in molecular biology, genetics and precision medicine.

Vision

By the year 2027, we will be recognized nationally and internationally as a research group that generates new high quality scientific knowledge. We will be known for participating in collaborative studies of great impact, standing out because of the excellence in our processes and the adoption of good practices based on ethical principles. GENuino researchers will be recognized for their significant contributions to the National System of Science, Technology and Innovation of Colombia.

Our objectives

To contribute to the knowledge of genetic bases of important diseases in the Colombian population.
To support and work in coordination with different national and international research groups involved in our areas of interest.
To encourage the student community in human genetics, molecular biology and rigorous scientific research

Lines of research

Our participations

Clinico-molecular characterization of a group of Colombian patients with Colombian patients with variants in genes associated with colorectal to colorectal cancer.

Molecular characterization of the JAK2 gene in a cross section of cross-section of Colombian patients with suspected colorectal neoplasms

Frequency of carriers of neonatal screening diseases in a population of 1000 Colombian subjects.

We are proud to announce that the Genuino group won first place in papers presented in ophthalmopediatrics at the XLI National and International Congress of Ophthalmology!

Partial 18p11 deletion and trisomy 21 associated with a complex phenotype: a case report.

Genetic characterization of a group of Colombian patients with suspected skeletal dysplasias.

Significance of pharmacogenetic profiling in a patient with epilepsy and hyperammonemia.

Pik3ca-associated overgrowth syndrome: clinical and molecular correlation of two cases.

Clinico-Molecular Characterization of a Court of Patients with Suspected Monogenic Diabetes

Molecular characterization of a Colombian group of patients with clinical suspicion of dystrophinopathies. - Molecular and phenotypic characterization of a group of Colombian patients with clinical suspicion of a dystrophinopathy.

Genotypic characterization of a court of Colombian patients with movement disorders such as parkinsonism or dystonia.

Institutionality and Governance of the National Science, Technology and Innovation System.

Oncological biomarkers identified by NGS: characterization of the Colombian population tumors from 2019 to 2022

Genetic charaterization and in silico modelling of secondary protein abnormalities on gene variants liked to monogenic diabetes.

Identification of genetic variants related to hereditary dyslipidemias: characterization of a Colombian population.

Members

Danyela Faisury Valero Rubio, MSc

Andrés Mauricio Cabrera Lasso, MD

Eliana Garzon Venegas, MSc

Laura Catalina Parada Niño, MD, Msc

Monica Suarez Rubiano, MD, MSc

Andrea Eslava Otálora, MD, MSc

Luisa Fernanda Rodríguez Vallejo, MD, MSc

Yohjana Carolina Suarez Useche, MD, MSc

Asid De Jesús Rodríguez Villanueva, MD, MSc

Diego Andrés Otero Rodríguez, MSc

Miguel Esteban Chacón Gómez, MSc

Fabio Andres Zapata, Mgtr

Research leaders

Lider 1 Genuino
Group leader:
Marcela Gálvez Bermúdez, MD, MSc
Medical Doctor, Master in Human Genetics from Universidad del Rosario. Master in Genetic Epidemiology from Erasmus University of Rotterdam. Professional with extensive experience in clinical genetics, family genetic counseling and management of research projects focused on human genetics.
Lider 3 Genuino
Research Coordinator:
Sandra Bello Uyaban, MD, Esp, MSc
Medical Doctor, Master in Human Genetics from Universidad del Rosario. Specialist in Epidemiology from Universidad CES
Lider 4 Genuino
José Jorge Geles, MD, Esp.
Medical Doctor from Universidad del Rosario, Specialist in clinical epidemiology from Universidad de los Andes.
Nuevo miembro de Genuino
Camilo Andres Velandia-Piedrahita
Physician of the Universidad del Rosario. Young researcher Minciencias 2020. Extensive experience in the development of research projects in human genetics, rare and infectious diseases through the use of cellular and molecular biology techniques.

Publications

Frequency of neonatal screening disease carriers in a population of 1000 Colombian subjects.

Methods: Cross-sectional study, including cases referred for WES, between January and October 2023, for suspected monogenic disease.
Authors: Manuel Latorre Quintana, Luis Fernando Visbal, Sandra Bello Uyaban, Juan Carlos Prieto, Marcela Gálvez Bermudez.
View poster
10/2024

Caracterización molecular del gen JAK2 en una corte transversal de pacientes colombianos con sospecha de neoplasias mieloproliferativas.

Methods: A descriptive cross-sectional study was performed, including patients diagnosed with cancer who underwent next-generation sequencing (NGS) in a reference molecular laboratory between November 2021 and August 2024. Those with positive results in at least one of the 25 genes of interest were included. Variants were classified according to American College of Medical Genetics and Genomics (ACMG) criteria, and STATA software was used for statistical analysis.
Authors: Laura Bolaño, Jose Geles, Andres Cabrera, Jair Perez, y Asid Rodriguez.
View poster
10/2024

Caracterización molecular del gen JAK2 en una corte transversal de pacientes colombianos con sospecha de neoplasias mieloproliferativas.

Methods: We conducted a cross-sectional descriptive observational study from May 2021 to July 2024 in which the molecular study was performed by Sanger sequencing of the V617F variant in the JAK2 gene in patients with suspected myeloproliferative neoplasia in a Colombian molecular reference laboratory. The variants were classified using the system proposed by the American College of Medical Genetics and Genomics and for the statistical analysis of the variables, SPSS software.
Authors: heremy Reyes, Ana Lorena Montealegre Páez, Camilo Andrés Velandia-Piedrahita, Sandra Bello, Marcela Gálvez.
View poster
10/2024

Effectiveness of the Booster Dose in Protecting against COVID-19, Colombia 2022

Methods: We conducted a cross-sectional study that included individuals who underwent a RT-PCR test for COVID-19 detection at a specific laboratory in Bogotá, Colombia, between 30 December 2021 and 7 February 2022. A total of 1468 subjects was included in the study.
Authors: Jubby Marcela Gálvez, Ángela María Pinzón-Rondón, Henry Mauricio Chaparro-Solano, Hanna Valentina Tovar-Romero, Juliana Ramírez-Prieto, Sergio Andrés Ortigoza-Espitia, Ángela María Ruiz-Sternberg.

DOI: 10.3390/vaccines11091461

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07/2023

Identificación de variantes genéticas relacionadas con dislipidemias hereditarias: caracterización de una población colombiana.

Metodología: Estudio observacional descriptivo retrospectivo de pacientes con sospecha de HF y SQF a quienes se realizó un estudio de secuenciación de nueva generación (NGS) para los genes de interés, entre julio 2019 y agosto 2022.

Autores: Sandra Bello, Andrés Cabrera, Manuel Latorre, Marcela Gálvez .
View poster
06/2023

Genetic heterogeneity of epileptic syndromes found by WES: characterization in a cross-section of Colombian patients

Metodología: Observational study of Colombian patients with a clinical diagnosis of epileptic encephalopathy. WES was performed to find a possible genetic cause within 2 years.
Authors: Laura Parada, Sandra Bello, Manuel Latorre, Marcela Galvez.
View poster
06/2023

Mutation profile of SARS-CoV-2 genome in a sample from the first year of the pandemic in Colombia.

Methods: Prospective samples were evaluated by RT-PCR to detect SARS-CoV-2 presence; alternatively, SARS-CoV-2 antigen positive tests were performed followed by a nasopharyngeal swab/ aspirate for confirmation by RT-PCR, within 72 h.
Authors: Jubby Marcela Gárvez, Henry Mauricio Chaparro-Solano, Ángela María Pinzón-Rondón, Ludwig L.Albornoz, Juan Mauricio Pardo-Oviedo, Fabio Andrés Zapata-Gómez, Andrés Felipe Patiño-Aldana, Andrea del pila Hernández-Rodríguez, Mateo Díaz-Quiroz, Ángela María Ruiz-Sternberg.

DOI: 10.1016/j.meegid.2021.105192

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02/2022

Caracterización genética de los síndromes de cáncer hereditario en una corte trasversal de pacientes colombianos y ecuatorianos

Methods: Estudio descriptivo y retrospectivo Mayo 2019 – Junio 2022 Sospecha de cancér hereditario, estudio molecular en línea germinal usando la tecnología de NGS y variantes identificadas y clasificadas según las guías de la ACMG
Autores: Manuel Latorre, Sandra  Bello, Marcela Gálvez, William Torres, Jose Guerra.
View poster
11/2022

Oncological biomarkers identified by NGS: characterization of the colombian population tumors from 2019 to 2022

Methods: Retrospective cross-sectional and descriptive observational study, in subjects with diagnosis of cancer, who had molecular testing by NGS in liquid biopsy or tumor tissue, and normalized with a germline sample, from May 2019 to April 2022.
Authors: M. Gálvez Bermudez1, S. Bello Uyaban1, M. Latorre Quintana1, M. Lasso Carlosama.
View poster
10/2022

Diagnostic yield of trio and individual Whole Exome Sequencing in a group of Colombian patients with a suspected monogenic disease.

Methods: A cross-sectional descriptive, retrospective study, approved by an ethics board,was carried out. Medical records were reviewed to obtain phenotypic data and trio WES was performed. Variant calling was done using GATK best practices, withsubsequent annotation and filtering using Human Phenotype Ontology (HPO).
Authors: Estefanía Rodríguez Alvarino, Sandra Bello, Diego Otero, Marcela Galvez.
View poster
10/2022

Diagnostic yield of whole-exome sequencing in neuroregression in a Colombian cohort

Methods: We performed a descriptive, cross-sectional cohort study in paediatric patients with neuroregression who underwent WES. Phenolyzer (http://phenolyzer.usc.edu)1 identified 226 genes with a strong association (score 0.0742 to 1) to neurological regression. These genes were evaluated as well as other possible genes related to the patient’s phenotype.
Authors: Marcela Galvez, Sandra Bello, Eliana Garzón.
View poster
06/2022

Diagnostic yield of whole exome sequencing in a cohort of Colombian patients with clinical suspicion of inborn errors of metabolism.

Methods: We performed a descriptive, cross-sectional cohort study in a group of Colombian patients with a possible IEM for whom a WES was indicated between July 2019 and December 2021. WES including nuclear and mitochondrial genome was run and analyzed at Gencell Pharma.
Authors: Suarez M; Bello SP; Sanchez DC; Serrano D; Galvez JM
View poster
05/2022

Genomic characterization of SARS-CoV-2 and its association with clinical outcomes: a 1-year longitudinal study of the pandemic in Colombia.

methods: In total, 1000 patients with SARS-CoV-2 infection were included in this study. Clinical data were collected from 997 patients, and 678 whole-genome sequences were obtained by massively parallel sequencing.
Authors: Ángela María Ruiz-Sternberg, Henry Mauricio Chaparro-Solano, Ludwig L. Albornóz, Ángela María Pinzón-Rondón, Juan Mauricio Pardo-Oviedo, Nicolás Molano-González, Diego Andrés Otero-Rodríguez, Fabio Andrés Zapata-Gómez, Jubby Marcela Gálvez.

DOI: 10.1016/j.ijid.2021.12.326

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03/2022

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It is a research group recognized by Minciencias, which focuses on the development of new knowledge in the areas of molecular biology, genetics and precision medicine.

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Congreso ACGH 2023
POSTER ASHG UNAL
Galvez J Marcela - EP10.072-1
2 Póster version EIM - copia