Development of a genome editing platform, using the CRISPR-Cas9 technique, for the treatment of orphan diseases associated with thoracic aortic aneurysms.

Project: Research Project

Project Details


Aortic aneurysms represent a high-risk pathology for patients, frequently requiring highly complex surgeries.

It is clearly established that a significant proportion of thoracic aortic aneurysms are associated with a group of orphan diseases of genetic origin that affect the proteins that form the extracellular matrix in the circulatory system.

Recent advances in genome editing technologies have the potential to correct genetic defects in many inherited diseases in which one or a few mutations are primarily responsible for the phenotype.

However, current models for evaluating the effectiveness and safety of these technologies have a number of deficiencies. The cells that produce the extracellular matrix in the aorta have established protocols for culture and introduction of proteins and nucleic acids, and form a tissue with a simple structure that can be studied in isolation without having to resort to animal models that can produce results that cannot be extrapolated. to human diseases.

Additionally, the mutations that cause the syndromes associated with thoracic aortic aneurysms are generally dominant and therefore heterozygous and allow repair by genomic editing using the normal allele as a template.

For this reason, we propose to carry out an in vitro study to study the feasibility of correcting the genetic defects that cause these diseases from cell cultures and tissues obtained from patients and determine the efficiency of personalized design of genome editing tools and the possibility to observe unwanted effects on the genome of the cells being studied.

The results of this study may contribute to the advancement of the implementation of genome editing for the correction of hereditary defects.
Effective start/end date1/31/191/31/22

UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This project contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

Main Funding Source

  • National


  • Bogotá D.C.


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