A new sequencer for faster and more accurate genetic diagnoses

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Genetic neuromuscular and neurodegenerative diseases often involve long and complex diagnostic pathways. When diagnosis is delayed, the clinical process is affected: treatments may begin only after the disease has already progressed, making therapeutic decisions more difficult to guide. Reducing this waiting time means being able to identify the disease sooner, direct families more quickly toward appropriate therapeutic and care choices, and better support the patient throughout their care journey.

With this goal in mind, the Centro Dino Ferrari has launched a project to acquire a new state-of-the-art genetic sequencer, essential for obtaining faster and more reliable diagnostic confirmations, in line with the gold standard of genetic diagnostics. This instrument will be applicable to the genetic study of neuromuscular and neurodegenerative diseases with neonatal, pediatric, and adult onset, strengthening the Center’s diagnostic and research autonomy.

Methods and Technologies

The project involves the acquisition and use of a state-of-the-art genetic sequencer based on capillary electrophoresis, a well-established technology for the diagnostic confirmation of genetic variants identified through Next Generation Sequencing (NGS) approaches. Specifically, the sequencer will be used for:

rapid and reliable confirmation of genetic variants identified in patients
analysis of biological samples (blood, tissues, biopsies) from both pediatric and adult patients
family segregation studies, essential for clarifying the hereditary transmission of diseases
identification of complex mutations (deletions, duplications, expansions) that are not always detectable with standard approaches

Expected Impact

Achieve faster and more reliable genetic diagnoses to support clinical decision-making
Enable earlier initiation of therapies and improve patient management
Improve the accuracy of family studies, which are essential for genetic disorders
Support therapy monitoring and the identification of new genetic variants
Strengthen the diagnostic and research autonomy of the “Dino Ferrari Center”, reducing reliance on external services

Budget: €120,000

Reference laboratory

Laboratorio Cellule Staminali Neurali
Gruppo Parkinson e disordini del movimento
Laboratorio di Biochimica e Genetica

Contacts and informations

neurologia@policlinico.mi.it

This project is supported by

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