Description
Rare diseases are a diverse group of disorders with low prevalence, but if we combined all patients, they would form the world’s 3rd largest population. These diseases pose significant challenges for patients and healthcare providers due to their chronic, debilitating nature and limited prevalence, resulting in restricted sample availability and genetic variability. Many rare diseases lack established diagnostic methods or treatment guidelines, and existing therapies often only alleviate symptoms rather than cure the conditions.
To address these issues, the Rare Disease Thematic Network promotes collaboration among IBEC groups, facilitating the sharing of advanced technologies, bioengineered models, and analytical techniques. The Network aims to streamline research and minimize variability. Additionally, through a concluding roundtable with medical experts, it seeks to bridge clinical needs and scientific methods, fostering interdisciplinary collaboration and advancing our understanding of rare disorders, ultimately leading to more effective treatments. This integrated approach is essential for improving research quality and developing effective treatments for rare disease patients
NET-RARE counts on the participation of the following IBEC research groups:
- Bacterial Infections: Antimicrobial Therapies
- Biosensors for Bioengineering
- Nanoprobes & Nanoswitches
- Nanobioengineering
- Molecular and Cellular Neurobiotechlogy
- Molecular Imaging for Precision Medicine
Contact us:
Chiara Ninfali: cninfali@ibecbarcelona.eu
Network Members
The six IBEC groups in the Rare Disease Network use methods from basic to translational research, including 3D models, organ-on-chip technologies and biomarker biosensors, to study disease complexity and foster collaboration.
Network Coordinator:
Chiara Ninfali
Postdoctoral Researcher
She is actively involved in developing 3D co-culture muscle models for the study of different rare muscle diseases.
Network Representatives:
Marina I. Giannotti
CIBER-BBN Senior Researcher
She works on finding mechanical biomarkers and treatments for lysosomal and collagen VI disorders.
Aránzazu Villasante Bermejo
Arantzazu Villasante works on bioengineered models for rare cancers.
Pol Picón Pagès
Postdoctoral researcher
He works on rare neurodegenerative diseases
Adriana González
Postdoctoral researcher
She works on myotonic dystrophy type I biomarkers using nuclear magnetic resonance techniques.
Eduard Torrents Serra
Senior Group Leader
He works at finding new strategies to treat bacterial chronic infections in cystic fibrosis patients. he works on the development of new light-activatable nanoswitches for the control of neuronal activity with nanoscale precision for brain circuits studies and innovative neurotherapeutic strategies.
Network Programme
NET-RARE will organize 3 half-day workshops (WS) and one in-person roundtable, each focusing on key topics in rare disease research. Each workshop will feature a one-hour seminar led by a distinguished national or international expert, followed by 30-minute presentations from two IBEC group speakers and one local expert from outside IBEC, broadening perspectives on the theme.
A final retreat will be held to synthesize the main concepts of the workshops, discuss the main challenges and conclusions emerged from the round table and prepare for future collaborative “proof of concept” projects.
Workshops information
Workshop 1: Advancements in Personalized Therapies for Rare Diseases
Date: 27 February 2025
In this first workshop, we will explore how various IBEC groups and external researchers are using new technologies to develop personalized therapies for rare diseases. The opening seminar features Adriana Gonzalez from IBEC’s “Molecular Imaging for Precision Medicine” group. She will explain how the group studies myotonic dystrophy type I, a rare muscular disease, using nuclear magnetic resonance techniques. Next, Silvia Muro from IBEC’s “Targeted Therapeutics and Nanodevices” group will present recent progress in using targeted nanotechnology to deliver drugs for treating genetic lysosomal disorders. We are also pleased to welcome Frances Platt, professor of Biochemistry and Pharmacology, Department of Pharmacology, University of Oxford (UK). Her group studies fundamental disease mechanisms in lysosomal disorders to identify novel clinical interventions strategies. They use small molecule drugs to target unique steps in the pathogenic cascade and test them as mono-therapies or in combination with other therapies. After a networking break, Belen Perez Dueñas from VHIR’s “Therapeutics and Innovations in Neuropediatrics” group will describe her team’s efforts to address rare neuromuscular disorders through molecular diagnostics and personalized genetic therapies. Finally, Eduard Torrents Serra, leader of IBEC’s “Bacterial Infections: Antimicrobial Therapies” group, will talk about his research on antimicrobial treatments for cystic fibrosis.
Scheduled Program:
09.30-09.40: Welcome and short introduction of the workshop
09.40-10.10: Seminar from Adriana Gonzalez, IBEC group “Molecular Imaging for Precision Medicine”
10.10-10.40: Seminar from Silvia Muro (to be confirmed next week), IBEC group “Targeted therapeutics and nanodevices”
10.40-11.30: External international speaker seminar: Frances Platt, professor of Biochemistry and Pharmacology, Department of Pharmacology, University of Oxford (UK).
11.30-12.00: Coffee Break and Networking
12.00-12.30: External national speaker seminar: Belen Perez Dueñas / David Gómez Andrés from the VHIR group “Therapeutics and innovations in neuropediatrics”.
12.30-13.00: Seminar from Eduard Torrents Serra, IBEC group “Bacterial Infections: Antimicrobial Therapies”
13.00-13.10: Remarks and Closing
Lunch with invited speakers followed by a brief tour showcasing some of our laboratories.
Workshop 2: Humanized Models for Studying Rare Diseases
Date: 4 July 2025
In this second workshop, we will explore how humanized and bioengineered models can replace 2D cultures and murine models to better understand and replicate rare disorders. The goal is to examine the latest approaches for studying rare diseases in personalized human models. The opening seminar features Aranzazu Villasante Bermejo from IBEC’s “Nanobioengineering” group, who will discuss their work on creating bioengineered models for studying rare cancers. Following this, international speaker Francesco Saverio Tedesco, leader of the Stem Cells and Neuromuscular Regeneration Laboratory at University College London, will present his research on enhancing muscle regeneration to develop treatments for severe and incurable childhood diseases, like muscular dystrophies. Recently, his team has developed a novel human engineered muscle model for advanced in vitro modelling of muscle disorders involving extracellular matrix, including COL6-related dystrophies. After a networking break, Maria del Mar Mañú from VHIR’s “Childhood Cancer and Blood Disorders” group will introduce their new personalized model for studying rare anaemia disorders. Her team, in collaboration with IBEC, has developed a spleen-like microfluidic filtering unit to model disease progression and create a diagnostic device for prognosis and patient stratification. Finally, José Antonio del Rio and Pol Picón Pagès from IBEC’s “Molecular and Cellular Neurobiology” group will share their research on neurodegenerative diseases.
Scheduled Program:
10.00-10.10: Welcome and short introduction of the workshop
10.10-10.40: Seminar from Aranzazu Villasante Bermejo, IBEC group “Nanobioengineering”
10.40-11.30: External international speaker seminar: Francesco Saverio Tedesco, professor of Neuromuscular Biology and Regenerative Medicine, Department of Cell and Developmental Biology, University College London (UK).
11.30-12.00: Coffee Break and Networking
12.00-12.30: External national speaker seminar: María del Mar Mañú Pereira/Anna Collado Gimbert from the VHIR group “Childhood Cancer and Blood disorders”.
12.30-13.00: Seminar from José Antonio del Rio/Pol Picón Pagès, IBEC group “Molecular and Cellular Neurobiology”
13.00-13.10: Remarks and Closing
Lunch with invited speakers followed by a brief tour showcasing some of our laboratories.
Workshop 3: Identification of Biomarkers and Diagnostic Models for Rare Diseases
Date: October/November 2025 (to be confirmed)
This 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.
Tentative schedule:
10.00-10.10: Welcome and short introduction of the workshop
10.10-10.40: Seminar from Marina Giannotti, IBEC group “Nanoprobes & Nanoswitches”
10.40-11.30: External international speaker seminar: to be confirmed
11.30-12.00: Coffee Break and Networking
12.00-12.30: External national speaker seminar: to be confirmed
12.30-13.00: Seminar from Chiara Ninfali, IBEC group “Biosensors for Bioengineering”
13.00-13.10: Remarks and Closing
Lunch with invited speakers followed by a brief tour showcasing some of our laboratories.
Roundtable: Bridging Rare Diseases Scientific Research and Clinical Needs
Date: to be confirmed.
This roundtable will foster a dialogue that integrates scientific insights with clinical perspectives, enhancing approaches to developing therapies tailored to each disease stage.