F. Fortunato
A5018712451- Muscle Physiology and Disorders
- RNA Research and Splicing
- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- RNA regulation and disease
- Cardiomyopathy and Myosin Studies
- CRISPR and Genetic Engineering
- Hereditary Neurological Disorders
- Nuclear Structure and Function
- BRCA gene mutations in cancer
- Cell Adhesion Molecules Research
- Ion channel regulation and function
- Attention Deficit Hyperactivity Disorder
- Antifungal resistance and susceptibility
- Metabolism and Genetic Disorders
- Aerosol Filtration and Electrostatic Precipitation
- Adipose Tissue and Metabolism
- Exercise and Physiological Responses
- Genetic and rare skin diseases.
- Cardiovascular Effects of Exercise
- Endoplasmic Reticulum Stress and Disease
- Industrial Automation and Control Systems
University of Ferrara
2017-2025
Semmelweis University
2020
University of Milan
1997-2008
University of Naples Federico II
1994-2005
Dystrophinopathies are inherited diseases caused by mutations in the dystrophin (DMD) gene for which testing is mandatory genetic diagnosis, reproductive choices and eligibility personalized trials. We genotyped DMD our Italian cohort of 1902 patients (BMD n=740, 39%; n=1162, 61%) within a nationwide study involving 11 diagnostic centers 10-year window (2008-2017). In patients, we found deletions 57%, duplications 11% small 32%. BMD, 78%, 9% 13%. there higher number more frequent than...
Abstract Background Genomic newborn screening (gNBS) offers the potential to detect genetic conditions early, enhancing outcomes through timely treatment. It can serve as an additional tool identify that are not detectable via metabolic screening. The Screen4Care project seeks develop a systematic approach for selecting treatable rare diseases (RDs) inclusion in gNBS creation of TREAT-panel. Methods A set six selection criteria containing treatability, clinical validity, age onset, disease...
Rett syndrome (RTT) is a rare X-linked dominant neurodevelopmental disorder caused by pathogenic variants in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes (MeCP2) that acts as repressor of gene expression, crucial neurons. Dysfunction MeCP2 due to its explains clinical features RTT. Here, we performed histological and RNA analyses on post-mortem brain sample from an RTT patient carrying p.Arg106Trp missense mutation. This part cohort 56 genetically clinically characterized...
Since 72% of rare diseases are genetic in origin and mostly paediatrics, newborn screening represents a diagnostic "window opportunity". Therefore, many gNBS initiatives started different European countries. Screen4Care is research project, which resulted joint effort between the Union Commission Federation Pharmaceutical Industries Associations. It focuses on artificial intelligence-based tools will be applied to large population about 25.000 infants. The neonatal strategy based targeted...
Genetic diagnosis and mutation identification are now compulsory for Duchenne (DMD) Becker muscular dystrophies (BMD), which due to dystrophin gene mutations, either disease prevention or personalized therapies. To evaluate the ethnic-related genetic assortments of DMD may impact on pipelines, we studied 328 patients with BMD from non-European countries.We performed a full detection in 10 Eastern European countries (Poland, Hungary, Lithuania, Romania, Serbia, Croatia, Bosnia, Bulgaria,...
Abstract Background The development of e-health technologies for teleconsultation and exchange knowledge is one the core purposes European Reference Networks (ERNs), including ERN EURO-NMD rare neuromuscular diseases. Within ERNs, Clinical Patient Management System (CPMS) a web-based platform that seeks to boost active collaboration within across network, implementing data sharing. Through CPMS, it possible both discuss patient cases make patients’ available registries databases in secure...
Abstract Background Becker muscular dystrophy (BMD) is an X-linked neuromuscular disease due to mutations in the DMD gene, leading a deficient and less functional dystrophin mainly skeletal cardiac muscle. Understanding natural history of BMD crucial for optimizing patient care developing targeted treatments. Materials methods Retrospective data were collected from 943 patients diagnosed with based on combination clinical, biochemical genetic criteria followed by 17 Italian centers....
Introduction Rare diseases (RDs) collectively impact over 30 million people in Europe. Most individual conditions have a low prevalence which has resulted lack of research and expertise this field, especially regarding genetic newborn screening (gNBS). There is increasing recognition the importance incorporating patients’ needs general public perspectives into shared decision-making process gNBS. This study part Innovative Medicine Initiative project Screen4Care aims at shortening diagnostic...
Duchenne muscular dystrophy (DMD) is a rare and severe X-linked in which the standard of care with variable outcome, also due to different drug response, chronic off-label treatment corticosteroids (CS). In order search for SNP biomarkers corticosteroid responsiveness, we genotyped variants across 205 DMD-related genes patients differential response steroid treatment.We enrolled total 228 DMD identified dystrophin mutations, 78 these have been under at least 5 years. were defined as high...
Abstract To gain insight on dystrophin (DMD) gene transcription dynamics and spatial localization, we assayed the DMD mRNA amount defined its compartmentalization in myoblasts, myotubes, skeletal muscle biopsies of Duchenne muscular dystrophy patients. Using droplet digital PCR, Real-time RNAscope situ hybridization, showed that transcript is extremely reduced both patients’ cells mutation-related differences occur. We also found that, compared to controls, dramatically cytoplasm, as up 90%...