NET-RARE. Workshop 3: Identification of Biomarkers and Diagnostic Models for Rare Diseases

NET-RARE third workshop third workshop focuses on the latest technologies for identifying new biomarkers to enable early detection and better characterization of rare diseases. It also aims to explore strategies for using biomarkers to monitor disease progression and incorporate them as secondary endpoints in clinical trials.

The session will open with Marina Giannotti from IBEC’s Nanoprobes & Nanoswitches group, whose research explores mechanical biomarkers and evaluates therapeutic approaches for several rare conditions, including lysosomal storage disorders and collagen VI-related dystrophies. This will be followed by a presentation from Turgut Durduran of ICFO’s Medical Optics group (ICFO-MEDOPT), who will showcase his collaborative work with Sant Joan de Déu Hospital on rare paediatric diseases. This interdisciplinary group focuses on creating advanced photonic technologies to support pre-clinical and clinical biomedicine.

The plenary lecture will be delivered by international guest Pietro Spitali, from the Department of Human Genetics at Leiden University Medical Center (Netherlands). His research focuses on advancing our understanding of neuromuscular disorders through biomarker-based approaches. His group combines spatial technologies to connect biomarker signatures with tissue morphology and employs a multidisciplinary strategy that integrates molecular biomarker discovery in blood samples with a range of “omics” techniques. His work spans quantitative laboratory methods, statistical modeling, and the integration of complex datasets.

After a networking break, Marc Moltó from VHIR’s Clinical Biochemistry, Drug Delivery and Therapy group will present their recent progress in biomarker identification for lysosomal storage disorders. The workshop will conclude with a talk by Aranzazu Villasante of IBEC’s Nanobioengineering group, who will present their work on biomarker discovery using engineered models of rare cancers

 Join us to explore the next steps to tackle rare diseases !

Workshop held in the framework of the IBEC Thematic Networks.

Registration (below) is mandatory.

PROGRAMME

09:20 – Registration

09:30 – Welcome and introduction

09:40 – Marina Giannotti, IBEC group “Nanoprobes & Nanoswitches”, “Nanomechanics in the search for Disease Markers: Focus on Molecular Dystrophy and Lipidosis”

10:10 – National invited speaker: Turgut Durduran from ICFO-Medical Optics (ICFO-MEDOPT) group. «Non-invasive measurement of deep tissue oxygen metabolism and blood flow:  background, clinical relevance and potential for personalized treatment of rare diseases».

10:40 – International invited speaker: Pietro Spitali from Human Genetics Department of the Leiden University Medical Center (Netherlands), “Circulating and local biomarkers in neuromuscular disorders”

11:30 – Coffee break and Networking

12:00 – National invited speaker: Marc Moltó from VHIR group “Clinical Biochemistry, Drug Delivery and Therapy”, “Biomarkers in Fabry disease: Challenges in clinical diagnosis and follow-up”

12:30 –Aranzazu Villasante, IBEC Group “Nanobioengineering”, “Predictive Bioengineered Niches for Biomarker Discovery in Developmental Cancers”

13:00 – Remarks and Closing

Abstracts of the plenary talks will be available here (Network programme).