WE WILL NOT LEAVE THEM BEHIND! "The Colombian Programme for Undiagnosed Diseases (UDNCol)": Phase: 1. Multi-omic approach to deciphering undiagnosed rare diseases.

Project: Research Project

Project Details

Description

Undiagnosed diseases correspond to those conditions with a specific pattern of signs, symptoms and clinical findings, whose aetiology and mechanisms have not yet been fully described by health professionals. They are often genetic conditions, and people have been neglected or forgotten for years by healthcare systems, with little information and resources devoted to them. The Centro de Investigación en Genética y Genómica (CIGGUR) of the Universidad del Rosario has, since its inception in the 1990s, been working to introduce genetic diagnosis in Colombia for three diseases that were then neglected: Cystic Fibrosis, Haemophilia A and B and Sex-Linked Muscular Dystrophy. In 2024 it has decided, after developing several projects on rare diseases, to formalise a line of research on rare diseases that were not diagnosed.

This line of research currently exists in GrupLAC under the name of "Dysmorphology", which we will rename the "Colombian programme for undiagnosed diseases", focusing human and material resources to deal with the diagnosis of those who are not being attended to. The central objective is, as far as possible, that no one will be left behind without a diagnosis and/or understanding of their health condition. In the first phase of this proposal we will apply the experience gained in the multi-omic approach to these entities, which due to their molecular complexity have demonstrated the need to apply multiple strategies (genomics, transcriptomics, proteomics, epigenomics and functional validation) for the resolution of difficult cases. The proper understanding of the aetiology of these rare diseases is of impact, as it allows for appropriate genetic counselling, personalised treatment options and medical education for management in rural areas of the country, among others.

Keywords

rare diseases, genetics
StatusActive
Effective start/end date5/1/244/30/30

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

  • Installed Capacity (Academic Unit)

Location

  • Bogotá D.C.
  • Boyacá
  • Cundinamarca

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