Beneficiaries

INSERM, France

Supervisor: Mario Gomes-Perira, Project Coordinator   

Research Center:  https://recherche-myologie.fr

Lab:  https://recherche-myologie.fr/research/labs/furling-gourdon-lab

For more than two decades, my focus has been on investigating the genetics and pathophysiology of myotonic dystrophy type 1, a multisystemic trinucleotide repeat expansion diseases. My journey in this field was initially driven by a profound curiosity about the dynamics of unstable DNA and their association with human disease. More recently I have focused on the molecular and cellular aetiology of brain dysfunction. This work has been pivotal in understanding how DNA repeat expansion and RNA toxicity disrupts neuronal pathways and neuroglial communication, leading to the neurological symptoms of myotonic dystrophy. Today I lead the group “RNA toxicity and brain cell communication”, team at the Centre of Research in Myology in Paris, a leading institution in neuromuscular disease research. In this multifaceted research environment, which combines unique scientific and clinical expertise, in a true synergistic and translational effort, we have been exploring the molecular and cellular mechanisms of brain dysfunction in DM1.

INSERM, France

Supervisor: Geneviève Gourdon

Research Center:  https://recherche-myologie.fr

Lab:  https://recherche-myologie.fr/research/labs/furling-gourdon-lab

 

I have focused my research interests on myotonic dystrophy type 1 (DM1) for 30 years. My group has generated several DM1 mouse models, with different CTG repeat lengths embedded in 45kb of human DM1 genomic sequences. These mouse models have proven very powerful to both study somatic repeat instability and pathogenesis and for preclinical assay. My group is involved in various collaborative studies aiming at developing new therapeutic strategies for DM1. In July 2019, my group joined the groups of Denis Furling and Guillaume Bassez at the Institute of Myology in order to synergize translational research programs on myotonic dystrophies. 

INSERM, France

Supervisor: Denis Furling

Research Center:  https://recherche-myologie.fr

Lab:  https://recherche-myologie.fr/research/labs/furling-gourdon-lab

 

The scope of our team entitled “Repeat Expansions & Myotonic Dystrophies - REDs”, co-directed by Geneviève Gourdon and Denis Furlingf, is mainly focused on myotonic dystrophy type 1 (DM1). This autosomal dominant disease is caused by expanded CTG repeats and belongs to the family of RNA gain-of-function disease. The two main aims of our translational research are i) to decipher the pathophysiological mechanisms induced by expanded repeats and involved in multisystem alterations, and ii) to develop and evaluate therapeutic strategies for DM1. For this purposes, we are developing in vitro and in vivo models and combining a variety of cutting-edge approaches and technologies. We also benefit from a high-quality environment to synergize our translational efforts. 

University of VALENCia, Spain 

Supervisor: Ruben Artero

Department: University Institute for Biotechnology and Biomedicine Research (BIOTECMED)  

https://www.uv.es/ 

Instiution website: www.uv.es/gt  

Advancing genetic research through innovative models and therapeutics 

Our lab is dedicated to uncovering the molecular mechanisms of rare neuromuscular disorders, with a strong focus on myotonic dystrophy (DM), limb-girdle muscular dystrophy D2 (LGMDD2), spinal muscular atrophy (SMA), and Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS). We integrate cutting-edge genomic technologies, transcriptomic approaches, and proteomic analyses to identify disease pathways and develop targeted therapies. A key area of our research is the development of oligonucleotide-based therapeutics, including gapmers and antimiR strategies to modulate disease-associated miRNAs, as well as optimizing drug delivery for enhanced efficacy. We also explore drug repurposing to accelerate treatment development and leverage whole-genome sequencing to identify genetic modifiers influencing disease progression. Our preclinical models—including cell-based 2 and 3D systems, mouse, and Drosophila—enable molecular phenotyping and high-throughput drug screening, bridging fundamental research with clinical applications. By combining molecular, cellular, and structural biology approaches, we aim to drive innovative therapeutic solutions and improve patient outcomes. We welcome highly motivated doctoral candidates eager to contribute to cutting-edge research with direct translational impact.

University of VALENCIA, Spain 

Supervisor: Arturo López Castel

Department: University Institute for Biotechnology and Biomedicine Research (BIOTECMED)  

https://www.uv.es/ 

Instiution website: www.uv.es/gt  

Advancing genetic research through innovative models and therapeutics 

Dr. López Castel, Assistant Prof. at the University of Valencia, has extensive experience in R&D&I projects focused on biology, genetics, human disease, and therapeutic research. During his PhD and postdoctoral work at the Autonomous University of Barcelona and The Hospital for Sick Children in Toronto, he conducted basic research using Drosophila, mice, human cell lines, and patient samples to uncover mechanisms underlying genetic-linked diseases, including myotonic dystrophy and fragile X syndrome. Transitioning to biotech, he contributed to Valentia BioPharma and Genera Biotech. He managed national and international projects on rare diseases, drug screening and development, biomarker discovery, and toxicological studies on genetic, neuromuscular, and hepatic pathologies. To enhance his translational research approach, he pursued an MBA. Currently, Dr. López Castel leads translational projects within the Human Translational Genomics group, connected to repeat expansion diseases such as myotonic dystrophy and CANVAS, bridging research and biotech innovation, and connecting Drosophila and human patients disease features.

Institute for Bioengineering of Catalonia (IBEC), SPAIN

Supervisor: Javier Ramón Azcón

Group: https://ibecbarcelona.eu/biosensors

IBEC: https://ibecbarcelona.eu

Our research group focuses on integrating organ-on-chip technology, tissue engineering, and biosensors to develop more accurate and representative models of human organs. Compared to traditional in vitro cell cultures or animal testing, our approach enhances the study of biological processes, validates disease models, and accelerates drug discovery. By leveraging patient-derived cells, we aim to advance personalized medicine, improve disease understanding, and expedite the development of effective treatments.

 

Institute for Bioengineering of Catalonia (IBEC), SPAIN

Supervisor: Juanma Fernández Costa

Group: https://ibecbarcelona.eu/biosensors

IBEC: https://ibecbarcelona.eu

Juanma Fernández-Costa is a senior researcher at the Institute for Bioengineering of Catalonia (IBEC), with over 15 years of experience in the study of muscular dystrophies, particularly myotonic dystrophies. He currently leads the Muscle Team within the Biosensors for Bioengineering group. The team develops advanced biomimetic models that integrate tissue engineering, organ-on-chip technology, and biosensors to model muscle diseases. Their goal is to deepen our understanding of molecular pathology, identify therapeutic targets, and accelerate drug development for these rare disorders.

 

Tor Vergata University of Rome, ITALY

Supervisor: Giuseppe Novelli

Laboratorio di Genetica Medica

Prof. Giuseppe Novelli is a Professor of Medical Genetics at the University of Rome Tor Vergata. His expertise focuses on identifying and characterizing genes associated with several human diseases. Giuseppe Novelli is a distinguished Italian geneticist renowned for his academic career and expertise in medical genetics. He served as the Rector of the University of Rome "Tor Vergata" from 2013 to 2019. He is an Adjunct Professor at the University of Reno, Nevada (USA). He served for 5 years as a member of the Pharmacogenetics Working Party, EMA (European Medicines Agency). He is a member of the Italian National Committee for Biotechnology and Biosecurity of the Italian President of Council (CNBBSV) and a member of Academia Europaea (https://www.ae-info.org/). Prof. Novelli has been working on myotonic dystrophy since 1984 when he attended Claudine Junien's laboratory in Paris. He collaborated to map the disease gene of DM1 and characterized the genotype-phenotype correlations. Currently his laboratory is a reference center in Italy for the study of myotonic dystrophy. His lab recently developed an advanced protocol for deriving human-induced pluripotent stem cells (hiPSCs) from patients with genetic diseases such as myotonic dystrophies. He is a member of many international societies of Human Genetics (ASHG, HUGO, ESHG) and a founding member of the Italian Society of Human Genetics (SIGU). Prof. Novelli is an active member of the “National Research Center – Development of Gene Therapy and Drugs with RNA Technology.” Professor Novelli is an Editor and/or Associate Editor of many Journals in Genetics. He is author of over 700 international peer-reviewed papers with an H-index of 71 and 28.174 citations (Scopus).

Tor Vergata University of Rome, ITALY

Supervisor: Annalisa Botta

Department of Biomedicine and Prevention

Annalisa Botta is an Associate Professor of Medical Genetics in the Department of Biomedicine and Prevention at Tor Vergata University of Rome. With over 15 years of experience in rare inherited diseases, particularly myotonic dystrophies, she currently leads a Neuromuscular Unit that engages in a wide range of researches. Her work spans from the development of diagnostic protocols to translational projects focused on identifying disease biomarkers and exploring gene therapy strategies. Her ongoing research is specifically centered on analyzing both germline and somatic dynamics of the C/CTG expansion process. She is working to determine cis- and trans-acting genetic modifiers of repeat stability using various systems and cellular models. Additionally, she is teaching Professor of Medical Genetics at both the Italian and International Medical Schools of Tor Vergata University. 

Links: ORCID ID: https://orcid.org/0000-0003-4031-5624 Scopus Author ID: 7005993766

Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, THE NETHERLANDS

Supervisor: Hans van Bokhoven

Department: Department of Human Genetics

My main research ambition is to gain insight into the molecular underpinnings of human development, in particular the development and functioning of the nervous system to improve patient care and options for diagnostics and therapy. Research in my group is characterized by a multi-level strategy that besides neurogenetics includes innovative functional analyses of in vitro and in vivo models both for fundamental research and for preclinical assessment of novel interventions, including gene therapy, cell therapy, genetic editing, and drug repurposing. The focus is on creating a better understanding and ultimately treatment of the neuropathological phenotype of DM1 and some rare neurodevelopmental disorder involving disruptions of the epigenetic machinery.

Radboud University Medical Center, DEPARTMENT OF MEDICAL BIOSCIENCES, THE NETHERLANDS

Supervisor: Rick Wansink

Department: Department of Medical Biosciences

My research interest concerns the molecular and cellular pathology of DM1, specifically the identification of targets for genetic and cell therapy and the development of therapeutic strategies. My group was one of the first to introduce therapeutic antisense oligonucleotides to neutralize RNA toxicity in DM1 and the first to remove the (CTG)n repeat from the DMPK locus via CRISPR/Cas9 technology. Keywords that describe my current research best are repeat RNA, repeat heterogeneity, muscle development, CRISPR/Cas and antisense oligonucleotides, and advanced microscopic analysis. My second passion is academic education. I am a highly motivated educator, mentor and coach and I strongly believe in the intrinsic connectedness of education, research and social involvement. In my education, I combine an interest in the personal interaction with my audience during knowledge transfer and academic training in various courses on mechanisms of health and disease.

LMU Klinikum Ludwig-Maximilians-Universität München, GERMANY

Supervisor: Benedikt Schoser

Department: Friedrich-Baur-Institute, Department of Neurology

The Schoser group focuses on multisystem neuromuscular diseases. The focus is on repeat disorders such as myotonic dystrophies (DM), facioscapulohumeral muscular dystrophy (FSHD), and glycogen storage diseases like Pompe disease. Research ranges from genetic fundamentals to molecular pathomechanisms, biomarker identification, and translational therapeutic interventions. Cell culture model systems are established to evaluate therapeutic strategies. Specific cellular mechanisms being investigated include splicing mechanisms, cellular metabolism, nuclear membrane alterations, and cellular aging in the context of disease. 

Particular focuses include: Establishment of cell culture model systems, Investigation of shared and disease-specific pathomechanisms in various neuromuscular diseases, Preclinical testing and development of therapeutic approaches,  Clinical trials

LMU Klinikum Ludwig-Maximilians-Universität München, GERMANY

Supervisor: Peter Meinke

Department: Friedrich-Baur-Institute, Department of Neurology

My research focuses on understanding neuromuscular diseases, including repeat disorders like myotonic dystrophies (DM) and facioscapulohumeral muscular dystrophy (FSHD), nuclear membrane-associated conditions such as Emery-Dreifuss muscular dystrophy (EDMD), and glycogen storage diseases like Pompe disease. I explore genetic foundations, molecular pathomechanisms, and the identification of biomarkers, with a particular emphasis on translational therapeutic interventions. To evaluate potential treatments, I establish cell culture models and investigate specific cellular mechanisms, including splicing mechanisms, cellular metabolism, nuclear membrane alterations, and cellular aging in relation to these diseases.

Centre d'Etudes des Cellules Souches, France

Supervisor: Cécile Martinat

For the past 15 years, Cécile Martinat has been striving to understand rare genetic diseases and find molecules to treat them. She achieves this using pluripotent stem cells, which have the ability to multiply indefinitely and generate all cell types in our body.

Genartis, Italy

Supervisor: Marzia Rossato

Department: Genartis R&D 

Marzia Rossato is founder and partner of Genartis and Associate Professor of Genetics at the Department of Biotechnology, University of Verona. Her research focuses on three main areas: genomics, transcriptomics, and epigenomics. Specifically, she develops and optimizes methods for genome and transcriptome analysis, as well as for identifying genetic variants in both humans and plants, utilizing innovative genomic technologies. At Genartis R&D, she is working on innovative diagnostic assays to explore parts of the genome that are not accessible with traditional short-read sequencing methods.

Genartis, Italy

Supervisor: Massimo Delledonne

Department webpage 

Personal webpage 

Massimo Delledonne is founder and president of Genartis and Full Professor of Genetics at the Department of Biotechnology, University of Verona. He manages a vigorous research program that emphasizes interdisciplinary approaches to understanding plant and human biology through genomic analysis. His own expertise is in the areas of genetics, molecular biology and genomics, and collaborates with researchers in diverse fields, including bioinformatics, microbiology and plant genomics, and medicine.

Université Paris Cité, France

Supervisor: Nathalie Angeard

My current research focuses on the study of (1) the development of higher-level cognitive processes such as executive functions, theory of mind, empathy, and their interdependence in typically developing preschool- and school-age children, and (2) their dysfunction in the context of acquired or neurodevelopmental disorders associated with risk factors such as hypoxia (Ondine's syndrome), genetic alterations involving deletion (dystrophinopathies), or unstable mutations (Myotonic Dystrophy type 1). The final line of investigation explores cognitive and neural plasticity potential through social cognition remediation protocols, leveraging innovative technologies such as virtual reality (VR), for which the Memory, Brain & Cognition laboratory is recognized as an expert center. Upon completion of these studies, we aim to provide a VR-based social cognition training program whose effectiveness has been demonstrated among pediatric populations with typical and atypical development (e.g., ADHD, ASD).

Spanish National Research Council (CSIC), SPAIN

Supervisor: Carme Fàbrega

Department: Institute for Advanced Chemistry of Catalonia (IQAC) 

The Nucleic Acid Chemistry group at IQAC-CSIC has a large experience in most areas related to the synthesis and properties of oligonucleotides. Research efforts have been concentrated in the following areas: 1) Development of novel RNA derivatives to enhance specific gene silencing properties of siRNA by RNA interference, including nuclease resistant siRNAs, lipid-RNA and development of lipid formulations. 2) Conformational analysis of biologically relevant non-canonical DNA structures such as triplex, G-quadruplex, and i-motif. 3) Development of biosensors using clamp oligonucleotides for enhanced binding by triple helix formation. 4) Functionalization of DNA origami to enhance biomedical properties.

Spanish National Research Council (CSIC), SPAIN

Supervisor: Ramon Eritja

Department: Institute for Advanced Chemistry of Catalonia (IQAC) 

The Nucleic Acid Chemistry group at IQAC-CSIC has a large experience in most areas related to the synthesis and properties of oligonucleotides. Research efforts have been concentrated in the following areas: 1) Development of novel RNA derivatives to enhance specific gene silencing properties of siRNA by RNA interference, including nuclease resistant siRNAs, lipid-RNA and development of lipid formulations. 2) Conformational analysis of biologically relevant non-canonical DNA structures such as triplex, G-quadruplex, and i-motif. 3) Development of biosensors using clamp oligonucleotides for enhanced binding by triple helix formation. 4) Functionalization of DNA origami to enhance biomedical properties.