Reconstruction and Computational Modelling for Inherited Metabolic Diseases
As associations and people dealing with inherited metabolic diseases well know, the path to obtaining a diagnosis can be long and complex, a true diagnostic odyssey. Currently, over 1450 rare inherited metabolic diseases are known, but the diagnostic process remains based on descriptive and intuitive methodologies, limited by the sequential nature of the process:
- Initial classification of symptomatic patients based on symptoms and clinical signs.
- Further classification through targeted biochemical and genetic tests.
- In some cases, whole genome sequencing.
For many rare inherited metabolic diseases, specific therapies and dietary interventions are available and can drastically improve patients quality of life. Therefore, receiving an accurate and timely diagnosis is essential.
Limits of Current Non-Personalized Therapies
Today, even with available diagnosis, it is not always possible to correctly stratify patients or determine the optimal therapeutic approach. Therapies administered at standard dosages have limited benefits, as they do not take into account the real needs and individual response to treatment. The absence of a personalized approach negatively impacts patients’ quality of life, especially in the presence of conditions involving the central nervous system.
The Ambition of Recon4IMD
The Recon4IMD study aims to provide physicians across Europe with advanced tools to diagnose and classify patients with rare inherited metabolic diseases, thanks to specific computational models. The main objectives of Recon4IMD include:
- Accelerating diagnosis,
- Enabling personalized clinical management of rare inherited metabolic diseases,
- Classifying patients based on genetic variants in metabolic pathways and molecular characteristics related to symptom severity,
- Improving the stratification of patients affected by Gaucher’s disease.
Integrated Technologies for Diagnosis
Nowadays, technologies for genomic analysis, protein structure prediction, and metabolic network modeling are available but they are still not integrated.
Recon4IMD will use these technologies in an integrated manner, applying them to the genomic, transcriptomic, metabolomic, and proteomic data of participants to create tailored computational models.
A computational model is a mathematical or logical representation of a system, simulatable via computer. This model allows the reproduction of the behavior of complex processes without the need of real-world experiments. Developing a personalized computational model to identify mechanisms influencing the clinical severity of Gaucher’s disease represents a first step in applying this approach to numerous other rare inherited metabolic diseases.
Who Can Participate in the Clinical Study?
The study will involve people with:
- Diagnosis of a rare inherited metabolic disease,
- Suspected diagnosis of a rare inherited metabolic disease,
- Diagnoses other than IMD and without secondary metabolic dysfunctions or healthy subjects,
- Diagnosis of Gaucher’s disease.
Contributing to the Recon4IMD Project without participating in the clinical study is possible!
Even those who cannot participate directly in the clinical study have the opportunity to make a significant contribution.
By filling out the two surveys prepared as part of the project, you can support researchers in developing innovative guidelines and tools designed to improve the diagnosis, treatment and quality of life of patients with inherited metabolic diseases and their families.
FIRST SURVEY
This survey aims to analyse the experience related to the diagnosis and management of rare metabolic diseases.
Click here to access the first survey
Experience of Diagnosis and Management of Inherited Metabolic Diseases: Patients and caregivers
SECOND SURVEY
We are conducting this survey to better understand the expectations of patients with rare inherited metabolic diseases and their caregivers regarding new diagnostic technologies in MMR.
Click here to access the second survey
Patient Hopes and Expectations for New Diagnostic Technologies in IMDs
Participation is invaluable for the achievement of the project objectives!
Recon4IMD is a European project involving doctors, researchers, and patients across Europe.
Recon4IMD is co-funded by the European Union's Horizon Europe Framework Programme (101080997), the Swiss State Secretariat for Education, Research and Innovation (23.00232), and by United Kingdom Research and Innovation (10083717 & 10080153).
