HR job title
- Profesor titular de carrera
Restrepo Fernández, Carlos Martin | Faculty Member Person
Tutored Theses: 13
Grants: 13
Publications: 84
Positions
- Researcher (ResearchOrganization), Instituto de Medicina Traslacional - IMT , Escuela de Medicina y Ciencias de la Salud
- Profesor titular de carrera, Escuela de Medicina y Ciencias de la Salud , Universidad del Rosario
- Researcher (ResearchOrganization), Centro de Investigación en Genética y Genómica - CIGGUR , Instituto de Medicina Traslacional - IMT 2003 -
Full professor in genetics. Extensive skills in teaching, research and clinical care work in areas of molecular, medical and human genetics. Current areas of interest are related to genetics and functional genomics of rare diseases, particularly those that have not been yet diagnosed, as well as, cancer and pharmacogenetics and pharmacogenomics.
In terms of teaching, I am actively involved in developing genetics skills in undergraduate and graduate students at the School of Medicine and Health Sciences. At CIGGUR we are developing several research and innovation projects with practical applications towards the human health of people, population isolates and communities. Scientific contributions are evidenced by several publications, some of them in international collaborations, book chapters and dozens of other communicable documents. Training for research and formative research are currently offered for undergraduate and graduate students.
Research Areas
- Functional genomics (LCSH)
- Genomics (LCSH)
- Human genetics
- Medical genetics (LCSH)
- Molecular genetics (LCSH)
- Overview
- Affiliation
- Publications
- Research
- Service
- Background
- Contact
- Identity
- View All
Overview
Affiliation
member of
- Centro de Investigación en Genética y Genómica - CIGGUR Researcher (member)
Publications
selected publications
Research
principal investigator on
- Genómica funcional para la descripción de mutaciones en el diagnóstico molecular del cáncer de seno esporádico en población colombiana 2022-02-01 - 2023-08-31
- Genetic mapping of cardiac conduction disorders - Genetic architecture of ECG 2011-07-01 - 2017-12-01
- Creation of a DNA bank referring to pathologies associated with human reproduction and frequent neurological dysfunctions. 2011-01-01 - 2012-01-01
- Analysis of haplotypes constructed with microsatellites linked to the FMR-1 gene in families with Fragile X Syndrome in Cundinamarca, Eje Cafetero and Valle del Cauca. 2006-01-01 - 2012-01-01
- New algorithm for warfarin dosage. Genetic and non-genetic factors. 2010-08-01 - 2011-04-15
- Clinical cases with relevance in medical genetics 2006-01-01 - 2009-12-31
- Development of a new simple and inexpensive diagnostic method for Fragil X syndrome -Evaluation of a diagnostic concept 2004-01-01 - 2006-06-01
- Analysis of genetic ligation in a Colombian family with diagnosis of DYGGVE-MELCHIOR-CLAUSEN and/or late spondyloepiphyseal dysplasia. 2005-02-01 - 2006-04-01
- missing activity
co-principal investigator on
- A method to identify rare diseases with translational research in biogeographic isolates from the Boyacá department exploring ancestry. 2021-12-23 - 2024-11-26
- Factores genéticos asociados a la severidad clínica en población colombiana afectada por SARS-CoV-2 2022-02-01 - 2023-08-31
- Functional genomics for the description of mutations in the molecular diagnosis of sporadic colon and rectal cancer in a Colombian population. 2021-01-01 - 2022-12-31
- Implication of 3'UTR sequence variation in breast cancer. 2021-11-23 - 2022-11-23
- Impact of genetic and non-genetic factors on the severity of SARS-CoV-2 infection: towards the generation of a risk prediction model in a Colombian population. 2021-03-01 - 2022-03-31
- missing activity
Service
Tutor of
- Análisis genómico en pacientes con anomalía de Ebstein Thesis
- Desarrollo de una aplicación de computador para analizar parámetros estadísticos genético-poblacionales de microsatélites en poblaciones humanas Thesis
- El papel de polimorfismos del gen COMT en la susceptibilidad a la Depresión Mayor Thesis
- Genotipificación de HLA-B en pacientes colombianos afectados por el síndrome Stevens-Johnson y la Necrólisis Epidérmica Tóxica Thesis
- Hallazgos secundarios en la secuenciación del exoma según las recomendaciones del Colegio Americano de Genética Médica y Genómica (ACMG) en una muestra de la población colombiana Thesis
- Impacto de la tecnología de secuencia de nueva generación (NGS) sobre el análisis genético de casos complejos en identificación de personas desaparecidas en el conflicto armado colombiano Thesis
- Medicina genómica en el diagnóstico de enfermedades raras Thesis
- Mutaciones bialélicas en HERC1 en una forma sindrómica de sobrecrecimiento y retraso mental Thesis
- Nuevos datos estadísticos genético-poblacionales para microsatélites en Colombia Thesis
- Polimorfismos del gen Butirilcolinesterasa responsables de reacciones adversas en pacientes consumidores de “cocaína” Thesis
- Pruebas de diagnóstico y cribado genético Thesis
- Tamizaje combinado de aneuploidía durante el primer trimestre del embarazo en Colombia Thesis
- Understanding the heritability of heart rhythm and conduction disorders Thesis
Background
Educational Training Background
- 1983, Médico Cirujano, Universidad Libre - Barranquilla
- 2000, Magíster en Genética Humana, Universidad de Guadalajara
- 2006, Doctor en Genética Humana, Universidad de Guadalajara
Last degree obtained
- Doctorado en Genética Humana, Universidad de Guadalajara
awards and honors
Contact
full name
- Carlos Martín Restrepo Fernández
mailing address
-
Universidad del Rosario. Sede Quinta de Mutis. Carrera 24 # 63C-69. Bogotá, Colombia.
Identity
Also known as
- Carlos M. Restrepo / orcid.org/0000-0001-6410-0084
CVLAC
- https://scienti.minciencias.gov.co/cvlac/visualizador/generarCurriculoCv.do?cod_rh=0000173100
ORCID
- http://orcid.org/0000-0001-6410-0084
Google Scholar
- https://scholar.google.com/citations?user=JzeJnj4AAAAJ
Pure
- https://urosario.pure.elsevier.com/en/persons/5efa49c4-446f-476d-8bbb-0455f5ca6791