University of Modena and Reggio Emilia (UNIMORE) scientists have pioneered stem cell and gene therapy research for epithelia, retina, blood, and neurodegeneration disorders. The UNIMORE Centre for Regenerative Medicine (CMR) is a 2000 sq metered GMP certified facility that has produced and registered the first stem cell based Advanced Therapy Medical Products (ATMPs) approved in Europe and is engaged in Ongoing Phase I/II clinical trials for ex-vivo gene therapy. Specific site expertise includes epithelial stem cell mediated cell therapy and tissue engineering, viral and non-viral methods to optimize the delivery of gene editing tools and gene therapy-based delivery of neuroprotective factors. Disease topic: Epidermolysis bullosa, Lamellar ichthyosis; Corneal dystrophies; Inherited retinal degeneration; Hereditary iron loading disorders; Sickle Cell Disease.

Chiesi Group is an international leader in the development of new therapies for patients suffering from rare diseases. Rare diseases represent one of the three pillars of Chiesi Group. In 2020, the Chiesi Group launched a Global Rare Diseases (GRD), which developed a portfolio consisting of ten drugs for patients with rare diseases. In November 2022, the company began the construction of a Biotech Center of Excellence that specializes in the development and production of therapeutic proteins, including enzymes produced with recombinant DNA technology. The company has participated in various research and development projects in the field of rare genetic diseases through innovative technologies such as gene and cell therapy and drug delivery systems in target organs and tissues. The goals and objectives of the Spoke 1 are fully in line with the strategic interests of the Chiesi Group, in particular those related to the field of rare hematological, rare neuro-ophthalmological and lysosomal storage disorders.

Telethon Institute of Genetics and Medicine (TIGEM) research focuses on understanding the disease mechanism and developing therapeutic strategies for inherited diseases. TIGEM investigators have gathered expertise in lysosomal biology, intracellular trafficking, and translational projects, especially gene therapy. The translational research is developed in the Molecular Therapy programme including investigators with expertise in clinical genetic, metabolic, and biochemical genetics. Research activity at TIGEM is supported by core facilities (Advanced microscopy and imaging, high content screening facility, Next generation sequencing facility). Disease topic: Birt-Hogg Dube’ syndrome and tuberous sclerosis; Mucopolysaccharidosis type VI; Leber optic neuropathy and Leigh syndrome; Pompe disease.

University of Bari Aldo Moro (UNIBA) scientists are experts in cell and mitochondria biology, mitochondrial protein deficiencies, gene delivery, CRISPR/CAS9 gene manipulation, and in vitro embryo production of farm animal models. The RU disposes of BSL II cell biology rooms and equipment as high-resolution respirometry instrumentation, facilities of mass spectrometry for metabolomics and fluorescence microscopy, a cell sorter cytofluorimeter. Disease topic: mitochondrial protein deficiencies.

University of Bologna (UNIBO) scientists are recognized internationally for their expertise in clinical and molecular genetics, in vivo and in vitro disease models, development of novel treatment strategies, gene therapy and gene editing, and clinical trials. High-tech equipment is also accessible at its Center of Applied Biomedical Research, a core facility, including animal facilities, multi-omics technologies,  biochemistry, histology, and microscopy laboratories, and a hot-room for radio-labeled experiments, where multi-disciplinary expertise are shared.  Disease topic: mitochondrial disorders.

University of Cagliari (UNICA) research members have an established expertise in Hemoglobinopathies, Thalassemia, Iron overload, Iron Chelators and new curative and non-curative therapeutic approaches in thalassemic syndromes. They are among the first in Europe, in terms of the number of patients, with hemoglobinopathy, a particularly alpha and beta thalassemia. Furthermore, the UNICA team also makes use of internationally recognized expertise in the genomics, epigenomics, and transcriptomics of complex pathologies, drug delivery, and more recent recently 2D/3D cellular models, and cellular differentiation. All this thanks to the use of cutting-edge instruments available at University Research Service Center. Disease topic: Beta thalassemia.

University of Milan (UNIMI) researchers specialize in unraveling the intricacies of mammalian skeletal muscle development and exploring the biological processes inherent in both normal and pathogenic muscle conditions. Their dedication extends to devising therapeutic approaches for Duchenne Muscular Dystrophy, with a focus on pioneering solutions. Additionally, their proficiency extends to a comprehensive examination of cellular and molecular processes associated with neuromuscular disorders, notably including a dedicated emphasis on Friedreich’s ataxia.

University of Naples Federico II (UNINA) research members are leaders in clinical genetics, molecular genetics, experimental hematology, Next-Generation Sequencing (NGS), functional genomics, bioinformatics, genome editing, pre-clinical drug studies, biomarker discovery, and the development of genetic mice models to focus on hereditary red blood cell and iron metabolism defects. This multidisciplinary team also possesses significant proficiency in cancer genetics and the increasing field of mRNA therapies. The combination of expertise in both basic and clinical research areas allows UNINA to address complex scientific questions and develop innovative solutions. Disease topic: Hereditary defects of red blood cells / iron metabolism defects and neurodevelopmental disorders.

University of Padua (UNIPD) scientists have pioneered the fields of hematopoietic stem cell and gene therapy for inherited neurometabolic diseases and for thrombotic and bleeding disorders. UNIPD is a world leader in mitochondrial biology, pathophysiology, diseases and gene therapy, with more than 40 laboratories and more than 200 researchers, of which include four EMBO and three Academia Europaea members, working on the topic. UNIPD researchers enjoy access to dedicated infrastructures including the novel Metabolic and Imaging Infrastructure “Miniature” that integrates advanced imaging, automated screening facilities, metabolomic and metabolic imaging in a unique platform, and a state of the art CryoEM. Disease topic: NCL1, leukodystrophies; Hemophilia; Mitochondrial disorders.

University of Siena (UNISI) team members have extensive expertise in Molecular Genetics, cellular and molecular biology of the Central Nervous System (CNS), disease modeling, gene editing. Genetics, cellular and molecular biology of skeletal muscle tissue, cellular and animal models of diseases, confocal microscopy. UNISI teams are supported by UpToDate platforms for molecular genetics, cell biology and gene expression, bioinformatics analysis and a center for Electron and Confocal Microscopy. Disease topic: Rett syndrome, Alport syndrome, Skeletal Muscle/Central Core Disease.