EDA-COM tackles rare disease diagnosis in Valais

The EDA-COM project, supported by the Axe Santé, aims to revolutionize the diagnosis of rare diseases in Valais using advanced sequencing technologies. This interdisciplinary initiative brings together key partners, including the Institute of Life Sciences at HES-SO Valais-Wallis, Hôpital du Valais, Unisanté, and the MaRaVal association. Together, they are working to reduce diagnostic odyssey and improve patient care.

The complete sequencing of DNA has opened new perspectives for diagnosing rare genetic diseases. For the past 24 years, this technology has allowed us to explore our genome in depth, revealing crucial information for understanding diseases that affect fewer than one in 2,000 people. Although considered rare, these diseases impact over 580,000 individuals in Switzerland, representing approximately 7% of the population. This public health challenge is even more concerning given the lack of medical knowledge and insufficient insurance coverage.

An interdisciplinary commitment

At the helm of the EDA-COM project is Alexandre Kuhn, a professor at the Institute of Life Sciences at HES-SO Valais-Wallis, who strives to accelerate the diagnosis of rare diseases, particularly in children. His goal is to avoid the years of therapeutic wandering that patients often experience. This interdisciplinary project brings together experts from several institutions:

This collaboration aims to integrate the experiences of patients and their families into the core of the research process.

Oxford Nanopore : an innovative method for effective diagnosis

The EDA-COM project utilizes an innovative technology called Oxford Nanopore Technologies (ONT) to sequence the entire genome in longer fragments. This approach provides a more comprehensive view of the genome, facilitating the identification of genetic variants associated with rare diseases. By employing this method during diagnostics, it is possible to significantly reduce the time required to reach an accurate diagnosis.

>> Check this video to get to know how nanopore sequencing works

Evaluating impacts: a questionnaire for Families

Another important aspect of the project is the development of a questionnaire aimed at parents of children with rare diseases. This questionnaire assesses:

  • The emotional impact of the diagnosis
  • Practical challenges faced by families

Adapted to Swiss realities, this questionnaire is essential for better understanding family needs and guiding future research.

Bioinformatics at the service of diagnosis

Rapid diagnosis also hinges on managing the complexity of the human genome, which contains about 3 billion nucleobase pairs. Bioinformatics plays a crucial role in filtering this data to identify relevant mutations. The steps include:

  1. Comparison with non-affected parents’ genomes to identify benign mutations.
  2. Functional prediction of detected mutations.
  3. Searching medical databases to determine whether mutations are pathogenic.

A committed researcher with clear goals

Alexandre Kuhn now aims to expand this method to a larger sample size to validate its effectiveness. As a biologist and bioinformatician, he has always sought to apply his research towards concrete solutions that enhance patient lives.

A model for the future

The support from Axe Santé has been crucial for this ambitious project, which perfectly illustrates the importance of inter-institutional collaborations in life sciences. By bringing together researchers, healthcare professionals, and associations like MaRaVal, the EDA-COM project paves the way for a future where rare disease diagnostics will be faster and more effective, thereby improving patients’ quality of life in Valais and beyond.This initiative positions Valais at the forefront of health innovation and demonstrates how collaborative approaches can transform medical landscapes when faced with complex challenges.

Source : Axe Santé

16 January 2025
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