- Description
- Network Members
- Network Programme
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:
Network Representatives:
Marina I. Giannotti
Senior Researcher
She works on finding mechanical biomarkers and treatments for lysosomal and collagen VI disorders.
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 and Venue
Thursday 27/02/2025 · 09:30h – 13:10h
Baobab room, Tower I, Floor 11, IBEC
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: Silvia Blanco, IBEC group “Molecular Imaging for Precision Medicine”
10.10-10.40: Silvia Muro, IBEC group “Targeted therapeutics and nanodevices”
10.40-11.30: International invited speaker: 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: National invited speaker: Belen Perez Dueñas from the VHIR group “Therapeutics and innovations in neuropediatrics”.
12.30-13.00: Eduard Torrents Serra, IBEC group “Bacterial Infections: Antimicrobial Therapies”
13.00-13.10: Remarks and Closing
Plenary talks details:
Dr. Belén Pérez Dueñas, Clinical Scientist and Senior Consultant in Pediatric Neurology, Vall d’Hebron Hospital and Research Institute.
Advanced Therapies and New Technologies in Rare Neurological Diseases of Childhood
Pediatric neurological disorders constitute the largest group of rare diseases that manifest during childhood and pose a significant challenge due to their complexity and chronic nature. Our research group addresses these conditions by developing a personalized medicine approach based on precise genetic diagnosis and the study of their molecular bases. Simultaneously, our team works on innovative projects and the development of advanced therapies, including highly complex technological interventions such as deep brain stimulation, and gene therapies. Given the rarity and complexity of these diseases, the approach integrates neuroimaging techniques, neuromuscular imaging, and data analysis to achieve high-impact, personalized treatments.
Dr. Belén Pérez-Dueñas trained in Pediatrics at Hospital Sant Joan de Deu, University of Barcelona. She did a post-doctoral training at the Institute of Child Health, Great Ormond Street Hospital for Sick Children (UK), and joined the Pediatric Neurology Division at Vall d’Hebron Hospital in 2017. She is responsible for the Pediatric Deep Brain Stimulation Program and the national reference center for rare diseases causing Movement Disorders. She is also the research group leader of the lab “Therapeutics and Innovation in Pediatric Neurology” at Vall d’Hebron research institute. Her research aims to improve quality of life in children affected by rare neurogenetic diseases causing neurodevelopmental disorders and motor disability. She has led several national and international projects focused on neurogenetic and neurometabolic diseases, including genomic studies to identify new genetic defects, new biomarkers, natural history studies, design and validation of new clinical rating scales.
Prof. Fran Platt, Head of the Department of Pharmacology, University of Oxford, UK.
Advances in small molecule therapies for lysosomal storage diseases
The therapeutic landscape for lysosomal storage diseases (LSDs) has expanded over the years and has been dominated by approved biologics, primarily enzyme replacement therapies. Gene therapies are also being trialled. These biologics are disease specific in nature and so do not constitute platform therapies that can be used across multiple LSDs. More recently, small molecule drugs have also reached regulatory approval and some of these drugs can be used across multiple LSDs. In this presentation I will give an overview of the therapeutic landscape then focus on Niemann-Pick disease type C (NPC), which uniquely has three approved small molecule therapies. Two of these FDA approvals occurred very recently. I will discuss how this success story now poses the challenge of how to deliver the optimal personalised therapy to NPC patients, using combination therapy to maximise clinical benefit.
Frances M. Platt is Professor of Biochemistry and Pharmacology and Head of the Department of Pharmacology, University of Oxford, UK. She received her Ph.D. in Animal Physiology from the University of Bath, UK. After completing postdoctoral training at Washington University Medical School, St. Louis, she joined the faculty at the University of Oxford and was the recipient of a five-year Lister Institute Senior Research Fellowship. She and her colleagues pioneered a novel approach to treat lysosomal storage diseases that has led to the development of an approved drug (miglustat) for type 1 Gaucher disease and Niemann-Pick disease type C disease. She is an academic co-founder of the company IntraBio and her translational work has continued as the companies lead drug Aqneursa was FDA approved in 2024 for the treatment of Niemann-Pick disease type C. She was elected Fellow of the Academy of Medical Sciences in 2011 and Fellow of the Royal Society in 2021.
Workshop 2: Humanized Models for Studying Rare Diseases
Date and Venue
Thursday 04/07/2025 · 10:00 – 13:10 h
Baobab room, Tower I, Floor 11, IBEC
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 will feature Juanma Fernández from IBEC’s “Biosensors for Bioengineering” group. He will present a 3D model designed to study various muscular diseases, along with Organ-on-Chip (OOC) technology and a biosensor platform for detecting biomarkers of the pathology. Next, Anna Collado Gimbert 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. 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. 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, the next talk will be given by Laura Siles from the Instituto de Microcirugía Ocular (IMO) in Barcelona. The group develops 3D retina models using induced pluripotent stem (iPS) cells and has extensive expertise in gene editing with CRISPR technology applied to patient-derived iPS cells. Finally, Marc Riu-Villanueva from IBEC’s “Molecular and Cellular Neurobiology” group will share their research on neurodegenerative diseases.
Scheduled Program:
9.30-9.40:Welcome and short introduction of the workshop
9.40-10.10: Juanma Fernández-Costa, IBEC Group “Biosensors for Bioengineering”
10.10-10.40: National invited speaker: Anna Collado Gimbert from the VHIR group “Childhood Cancer and Blood disorders”.
10.40-11.30: International invited speaker: 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: National invited speaker: Laura Siles from the Instituto de Microcirugía Ocular (IMO)
12.30-13.00: Marc Riu-Villanueva, IBEC group “Molecular and Cellular Neurobiology”
13.00-13.10: Remarks and Closing
Selected abstracts:
Dr. Juan M. Fernández-Costa, Institute for Bioengineering of Catalonia (IBEC), Biosensors for Bioengineering Group
Next-Gen preclinical models: Muscle-on-Chip meets nanoplasmonic biosensors for drug evaluation in muscular dystrophies
Muscular dystrophies are a group of over 70 rare genetic disorders that often result in progressive muscle degeneration and life-threatening complications. Traditional preclinical models like standard cell cultures and animal studies have proven insufficient due to the complexity and variability of these diseases. To overcome these limitations, Dr. Fernández-Costa’s team has developed human bioengineered 3D skeletal muscle tissues embedded within microfluidic “muscle-on-chip” platforms. These systems replicate essential muscle functions, such as contractility under electrical pulse stimulation (EPS), and allow the study of disease-specific behaviors in a physiologically relevant setup. The innovation continues with the integration of nanoplasmonic biosensors, which provide real-time, non-invasive monitoring of key biomarkers related to muscle damage and fibrosis. This combined platform enables rapid and dynamic evaluation of therapeutic candidates, significantly accelerating drug discovery and advancing translational research for neuromuscular disorders.
Dr. Juan M. Fernández-Costa is a Senior Researcher at the Institute for Bioengineering of Catalonia (IBEC), where he leads the muscle research team within the Biosensors for Bioengineering group. His research focuses on developing organ-on-chip models to better understand and treat skeletal muscle disorders, particularly muscular dystrophies. He earned his PhD in Molecular Biology and Genetics from the University of Valencia and has more than 15 years of experience in neuromuscular disease research. As a PhD student, he discovered dysregulated microRNAs in myotonic dystrophy type 1 (DM1) and explored their therapeutic potential. During his postdoctoral training, he created Drosophila models for high-throughput drug screening and contributed to the development of antisense oligonucleotide (ASO) therapies. In recent years, Dr. Fernández-Costa has integrated tissue engineering with biosensor technology, creating advanced preclinical platforms that bridge the gap between lab research and clinical application. His work is at the forefront of developing next-generation tools for drug screening and biomarker discovery in rare muscle diseases.
Dr. Anna Collado Gimbert, Vall d’Hebron Research Institute (VHIR) – Childhood Cancer and Blood Disorders Group
Deep characterization of red blood cells in sickle cell disease and other rare anemia disorders by microfluidics and machine learning algorithms
Rare hereditary hemolytic anemias (RHHA) are a diverse group of disorders marked by chronic red blood cell (RBC) destruction and highly variable clinical outcomes. Traditional diagnostic methods often fail to fully capture the complexity of RBC behavior in these conditions. In this talk, Dr. Collado presents a novel microfluidic platform that mimics splenic microcirculation, paired with deep learning algorithms for single-cell-level phenotyping of RBCs in patients with RHHA. These machine learning models are trained to differentiate healthy vs. pathological RBCs and to classify various specific disease states. This approach enables detailed evaluation of RBC deformability and flow dynamics, paving the way for more accurate diagnosis, patient stratification, and in vitro drug testing. The system demonstrates strong potential as a tool for personalized medicine in rare anemias. Future work includes integrating oxygen control modules and validating findings across larger and more diverse patient cohorts.
Dr. Anna Collado Gimbert is a Pediatric Hematologist at Vall d’Hebron University Hospital and a clinical researcher in the Rare Anemias Laboratory within the Childhood Cancer and Hematological Diseases Research Group at VHIR. She specializes in the diagnosis, treatment, and long-term care of pediatric patients with rare red blood cell disorders and anemias, integrating her clinical expertise with translational research. She earned her MD from the Autonomous University of Barcelona (2014), completed her Pediatrics residency (2015–2019), and pursued a fellowship in Pediatric Oncology, Hematology, and Hematopoietic Stem Cell Transplantation (2019–2021) at Vall d’Hebron University Hospital. Since 2021, she has served as a Specialist Physician in Pediatric Hematology and an active clinical researcher. Her research leverages real-world data, clinical registries, and emerging technologies such as artificial intelligence to advance precision medicine for rare hematologic diseases. She contributes to several national and international projects, including Genomed4ALL, Synthema, ERDERA, and HELIOS, all aimed at improving outcomes for patients with rare blood disorders. Professional Affiliations:
- Spanish Society of Pediatric Hematology and Oncology (SEHOP) – Red Cell Disorders Working Group
- Catalan Society of Pediatrics – Pediatric Hematology Working Group
- Scientific Committee Member – Spanish Registry for Hemoglobinopathies and Rare Anemias (REHem-AR SEHOP)
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: Marina Giannotti, IBEC group “Nanoprobes & Nanoswitches”
10.40-11.30: International invited speaker: to be confirmed
11.30-12.00: Coffee Break and Networking
12.00-12.30: National invited speaker: to be confirmed
12.30-13.00: Chiara Ninfali, IBEC group “Biosensors for Bioengineering”
13.00-13.10: Remarks and Closing
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.
All IBEC groups are welcome to join the network and actively participate by sharing their insights.