Multidisciplinary approaches to tackle rare diseases with personalized medicine (diagnostics and therapies) (NET-RARE) 

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 

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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.

Date and Venue
Thursday 04/07/2025 · 09:30 – 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: 

09:20 – Registration

09:30 – Welcome and introduction

09:40 – Juanma Fernández-Costa, IBEC Group “Biosensors for Bioengineering”, “Next-Gen preclinical models: Muscle-on-Chip meets nanoplasmonic biosensors for drug evaluation in muscular dystrophies”

10:10 – National invited speaker: Anna Collado Gimbert from the VHIR group “Childhood Cancer and Blood disorders”, “Deep characterization of red blood cells in sickle cell disease and other rare anemia disorders by microfluidics and machine learning algorithms”

10:40 – International invited speaker: Francesco Saverio Tedesco, professor of Neuromuscular Biology and Regenerative Medicine, Department of Cell and Developmental Biology, University College London (UK), “Advanced in vitro modelling of neuromuscular diseases and therapeutics”  

11:30 – Coffee break and Networking

12:00 – National invited speaker: Laura Siles from the Instituto de Microcirugía Ocular (IMO), “Retinal organoids and gene editing in Inherited Retinal Dystrophies: disease modeling using patient-derived iPSCs and potential therapeutic approximation”

12:30 – Marc Riu-Villanueva, IBEC group “Molecular and Cellular Neurobiology”, “Biochemistry and functional analysis of P301L Tau in human brain cortical organoids modelling tauopathies of the FTLD spectrum”

13:00 – 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)

Prof. Francesco Saverio Tedesco, Francis Crick Institute

Advanced in vitro modelling of neuromuscular diseases and therapeutics

he Tedesco Laboratory (tedescolab.org) harnesses the regenerative potential of muscle stem cells to develop innovative in vitro models and gene therapies for incurable neuromuscular disorders. Their pioneering work includes engineering artificial chromosomes as vectors for gene therapy (Tedesco et al., Sci Transl Med 2011; Benedetti et al., EMBO Mol Med 2018) and the generation, genetic correction, and preclinical testing of patient-derived human iPSCs (Tedesco et al., Sci Transl Med 2012; Maffioletti et al., Nat Protoc 2015).

More recently, the lab has created 3D human muscle models with up to four isogenic cell lineages, capable of replicating disease phenotypes with high fidelity. These systems are being used to test advanced therapies, including gene delivery tools and myogenic cell transplantation (Maffioletti et al., Cell Reports 2018; Choi et al., EMBO Mol Med 2022; Pinton et al., Nat Protoc 2023).

In this talk, Prof. Tedesco will review the evolution of these iPSC-based modeling platforms and present new data on their application to congenital muscle disorders and the optimization of genetic therapies.

Prof. Francesco Saverio Tedesco is a clinician-scientist specializing in paediatric neuromuscular diseases, muscle regeneration, and disease modeling. He is Professor of Neuromuscular Biology and Regenerative Medicine at University College London, Senior Group Leader at the Francis Crick Institute, and an Honorary Consultant Paediatric Neurologist at the Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London. He earned his Medical Degree with honours from Sapienza University of Rome, with research training at the Pasteur Institute in Paris. He completed his PhD at San Raffaele Scientific Institute, Milan, and his specialist training in paediatrics and paediatric neurology in London. Prof. Tedesco has been awarded prestigious fellowships and grants, including:

• NIHR Academic Clinical Fellowship and Clinical Lectureship
• ERC Starting Grant
• Leadership of the Horizon Europe consortium «MAGIC» (€10M, 17 institutions, 22 PIs)

Awards & Honours:

• 2015 – Young Investigator Award, European Society of Gene and Cell Therapy
• 2020 – Simon Newell Investigator of the Year, Royal College of Paediatrics and Child Health
• 2021 – MacKeith Prize, British Paediatric Neurology Association
• 2024 – Elected Fellow of the Royal College of Paediatrics and Child Health

Dr. Laura Siles Mena, Instituto de Microcirugía Ocular (IMO), Barcelona

Retinal organoids and gene editing in Inherited Retinal Dystrophies: disease modeling using patient-derived iPSCs and potential therapeutic approximation

Inherited retinal dystrophies (IRD) comprise a heterogeneous group of rare genetic disorders affecting retinal cells, leading to progressive vision loss and ocular complications. With over 300 genes implicated and no cure for most conditions, modeling these diseases is crucial for therapeutic development. This work utilizes patient-derived induced pluripotent stem cells (iPSCs) differentiated into 3D retinal organoids, which recapitulate the structure and function of the human retina more faithfully than 2D cultures.

These organoids allow in-depth disease modeling of IRDs like retinitis pigmentosa and Stargardt disease. Furthermore, gene editing is applied both in iPSCs and retinal cells to correct disease-causing mutations. Corrected isogenic lines demonstrate a rescue of disease phenotypes, confirming the potential of gene editing as a therapeutic strategy, both ex vivo and in vivo. The study underscores the utility of combining patient-derived organoids with gene editing to uncover mechanisms of pathogenesis and to develop personalized therapies for rare retinal disorders.

Dr. Laura Siles Mena is a postdoctoral researcher in the Genetics Department at the Instituto de Microcirugía Ocular (IMO) in Barcelona. Her current research focuses on the genetic diagnosis and pathogenesis of inherited retinal dystrophies (IRDs), using patient-derived iPSCs, 3D retinal organoids, and gene editing to explore new therapeutic avenues. Prior to joining IMO, Dr. Siles conducted postdoctoral research at IDIBAPS, in the Transcriptional Regulation of Gene Expression Group, where she investigated skeletal muscle pathologies such as Duchenne muscular dystrophy, employing both mouse models and human embryonic stem cells. Her work also addressed the role of transcription factors in tumor progression and metastasis. Her interdisciplinary expertise bridges ophthalmic genetics, stem cell biology, and molecular medicine, with a focus on developing advanced disease models and personalized therapies for rare genetic conditions.

Marc Riu-Villanueva, IBEC – Molecular and Cellular Neurobiotechnology Group

Biochemistry and functional analysis of P301L Tau in human brain cortical organoids modelling tauopathies of the FTLD spectrum

The P301L mutation in the MAPT gene, which encodes the microtubule-associated protein Tau, is a well-established pathogenic variant linked to rare inherited tauopathies. This mutation disrupts Tau’s normal function by promoting toxic fibrillar aggregation, a key feature in several neurodegenerative conditions. These include Frontotemporal Dementia with Parkinsonism linked to chromosome 17 (FTDP-17) (Orpha 282), as well as, to a lesser extent, Progressive Supranuclear Palsy (PSP) (Orpha 683) and Corticobasal Degeneration (CBD) (Orpha 240103).

In this presentation, we will discuss the use of human cortical brain organoids (hCBOs) derived from pluripotent stem cells to model the biochemical and functional impact of P301L Tau. This 3D in vitro model allows detailed exploration of tau aggregation dynamics and offers a powerful platform for studying disease mechanisms and therapeutic responses in rare tauopathies of the FTLD spectrum.

Marc Riu-Villanueva is a PhD student in the Molecular and Cellular Neurobiotechnology Group at the Institute for Bioengineering of Catalonia (IBEC). He holds a degree in Biomedical Sciences from the International University of Catalonia and conducted his undergraduate thesis at the University of Coimbra, where he investigated neuronal plasticity and mitochondrial fission. Marc later obtained a Master’s in Neuroscience from the University of Barcelona, focusing his thesis on modeling the ultra-rare disease spastic paraplegia type 52 using patient-derived iPSCs. His current doctoral research explores rare tauopathies through 3D human brain organoid models, aiming to uncover the molecular consequences of disease-associated MAPT mutations and identify potential therapeutic interventions.

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 

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.